RECQL4 (ATP-dependent DNA helicase Q4) variants and mutations
RECQL4 (also known as ATP-dependent DNA helicase Q4) is a human protein-coding gene encoding an ATP-dependent DNA helicase Q4 protein. It participates in DNA replication, repair, and maintenance of genome stability, particularly during replication initiation and processing of damaged DNA. Biallelic pathogenic variants cause Rothmund-Thomson, Baller-Gerold, or RAPADILINO syndromes, with variable skeletal abnormalities and cancer predisposition. This analysis covers 3,711 RECQL4 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, and rapadilino syndrome. Example RECQL4 variants include M1?, M1I, and M1L.
Variant analysis overview
- Gene: RECQL4
- Protein: ATP-dependent DNA helicase Q4
- UniProt accession: O94761
- Organism: Homo sapiens
- Variants analyzed: 3711
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 3,514 unspecified-consequence records; 1 stop lost; 1 stop retained variant; 93 synonymous variants; 6 in-frame deletions; 69 missense variants; 19 frameshift variants; 4 stop-gained variants; 3 splice-region variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 2,830 variants have prediction scores (76% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome, rapadilino syndrome, Rothmund-Thomson syndrome, osteosarcoma, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, hereditary disease, severe combined immunodeficiency, combined immunodeficiency, ovarian cancer, Ehlers-Danlos syndrome.
Protein structure and variant hotspots
- Protein features: 2 domains; 5 binding sites; 3 post-translational modification sites.
- Structural context: 960 variants have structural context.
- PTM context: 10 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable RECQL4 variants
Examples include M1?, M1I, M1L, M1T, M1V, E2G, E2Q, E2V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, rs1815451689, ClinGen CA372694050, ClinVar RCV001879105, NCI-TCGA TCGA novel, PolyPhen-2 1.00, Uncertain significance
- M1I (p.Met1Ile), rs1815451127, ClinGen CA372694045, ClinVar RCV002985503, ClinGen CA372694041, PolyPhen-2 0.99, Uncertain significance, Inborn genetic diseases
- M1L (p.Met1Leu), rs964623569, ClinGen CA187691376, ClinVar RCV001361919, PolyPhen-2 0.98, Uncertain significance, Baller-Gerold syndrome
- M1T (p.Met1Thr), rs1815451689, ClinGen CA372694048, ClinVar RCV001371292, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- M1V (p.Met1Val), rs964623569, ClinGen CA372694054, ClinVar RCV003130396, PolyPhen-2 0.98, Uncertain significance, not provided
- E2G (p.Glu2Gly), rs2130746663, ClinGen CA372694029, ClinVar RCV001988209, Ensembl rs2130746663, CADD 26.30, PolyPhen-2 0.94, Uncertain significance, Baller-Gerold syndrome
- E2Q (p.Glu2Gln), rs2538135445, ClinGen CA372694036, ClinVar RCV003849224, Uncertain significance, Baller-Gerold syndrome
- E2V (p.Glu2Val), Ensembl rs2130746663, CADD 25.50, PolyPhen-2 0.98, Uncertain significance
- R3G (p.Arg3Gly), rs886042531, ClinGen CA16612568, ClinVar RCV000461210, ClinVar RCV005722130, CADD 24.80, PolyPhen-2 0.95, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R3L (p.Arg3Leu), rs979012066, ClinGen CA16612435, ClinVar RCV000468790, ClinVar RCV001293916, CADD 22.90, PolyPhen-2 0.94, Uncertain significance, Rothmund-Thomson syndrome type 2; not provided; Baller-Gerold syndrome
- R3Q (p.Arg3Gln), rs979012066, ClinGen CA372694019, ClinVar RCV001323954, 1000Genomes rs979012066, CADD 16.80, PolyPhen-2 0.24, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- R3W (p.Arg3Trp), rs886042531, ClinGen CA10604361, ClinVar RCV000314628, ClinVar RCV001855111, CADD 25.20, PolyPhen-2 0.99, Uncertain significance, Baller-Gerold syndrome; not provided
- L4R (p.Leu4Arg), Ensembl rs2130746567, Uncertain significance, Inborn genetic diseases
- L4V (p.Leu4Val), TOPMed rs878854640, gnomAD rs878854640, CADD 21.70, PolyPhen-2 0.98, Likely benign
- R5G (p.Arg5Gly), 1000Genomes rs557142503, TOPMed rs557142503, gnomAD rs557142503, CADD 21.70, PolyPhen-2 0.53, Uncertain significance
- R5L (p.Arg5Leu), rs1815447241, ClinGen CA372693995, ClinVar RCV001058923, ClinVar RCV005470607, CADD 10.40, PolyPhen-2 0.08, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R5Q (p.Arg5Gln), rs1815447241, ClinGen CA372693997, ClinVar RCV002036802, ClinVar RCV006372614, CADD 9.86, PolyPhen-2 0.05, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R5W (p.Arg5Trp), rs557142503, ClinGen CA187691327, ClinVar RCV001900439, ClinVar RCV006362736, CADD 18.60, PolyPhen-2 0.05, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- D6E (p.Asp6Glu), TOPMed rs1168671636, gnomAD rs1168671636, CADD 1.02, PolyPhen-2 0.15, Likely benign
- D6G (p.Asp6Gly), Ensembl rs1815445943, CADD 15.90, PolyPhen-2 0.09, Uncertain significance
- D6H (p.Asp6His), TOPMed rs1009265867, gnomAD rs1009265867, CADD 22.80, PolyPhen-2 0.94, Uncertain significance
- D6N (p.Asp6Asn), rs1009265867, ClinGen CA187691321, ClinVar RCV000807907, ClinVar RCV001759546, CADD 15.70, PolyPhen-2 0.06, Uncertain significance, Inborn genetic diseases; not specified; not provided
- D6V (p.Asp6Val), rs1815445943, ClinGen CA372693984, ClinVar RCV001952916, Ensembl rs1815445943, CADD 22.50, PolyPhen-2 0.74, Uncertain significance, Baller-Gerold syndrome
- D6Y (p.Asp6Tyr), rs1009265867, ClinGen CA372693990, ClinVar RCV003616363, CADD 22.90, PolyPhen-2 0.96, Uncertain significance, Baller-Gerold syndrome
- V7G (p.Val7Gly), rs781721739, ClinGen CA4949514, ClinVar RCV000466943, ClinVar RCV000764771, CADD 24.50, PolyPhen-2 0.90, Uncertain significance, Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Baller-Gerold syndrom
- V7L (p.Val7Leu), gnomAD rs1429481203, CADD 5.50, PolyPhen-2 0.05, Uncertain significance, Inborn genetic diseases
- V7M (p.Val7Met), gnomAD rs1429481203, CADD 14.20, PolyPhen-2 0.29, Uncertain significance
- R8G (p.Arg8Gly), rs1554905170, ClinGen CA372693966, ClinVar RCV001347199, ClinVar RCV004960830, CADD 23.40, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R8P (p.Arg8Pro), rs896245546, ClinGen CA187691313, ClinVar RCV001985019, TOPMed rs896245546, CADD 24.20, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- R8Q (p.Arg8Gln), rs896245546, ClinGen CA372693962, ClinVar RCV001881403, TOPMed rs896245546, CADD 24.20, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- R8W (p.Arg8Trp), rs1554905170, ClinGen CA372693964, ClinVar RCV000634304, ClinVar RCV005260260, CADD 23.80, PolyPhen-2 1.00, Uncertain significance, Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Baller-Gerold syndrom
- E9* (p.Glu9Ter), rs1035057882, ClinGen CA372693950, ClinVar RCV003506850, CADD 33.00, Pathogenic
- E9G (p.Glu9Gly), Ensembl rs2130746264, CADD 16.80, PolyPhen-2 0.01
- E9K (p.Glu9Lys), rs1035057882, ClinGen CA187691308, ClinVar RCV000634301, ClinVar RCV001731822, CADD 10.30, PolyPhen-2 0.27, Conflicting interpretations, Baller-Gerold syndrome; Rothmund-Thomson syndrome type 2; Inborn genetic disease
- E9V (p.Glu9Val), Ensembl rs2130746264, CADD 6.25, PolyPhen-2 0.20
- R10G (p.Arg10Gly), rs757678397, ClinGen CA372693932, ClinVar RCV002004756, ExAC rs757678397, AlphaMissense 0.14, PolyPhen-2 0.90, Uncertain significance, Baller-Gerold syndrome
- R10P (p.Arg10Pro), TOPMed rs1001894022, gnomAD rs1001894022, CADD 11.20, PolyPhen-2 0.96, Likely benign, Inborn genetic diseases
- R10Q (p.Arg10Gln), rs1001894022, ClinGen CA372693928, ClinVar RCV000634205, ClinVar RCV005470472, CADD 1.63, PolyPhen-2 0.10, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R10W (p.Arg10Trp), rs757678397, ClinGen CA4949513, ClinVar RCV000686645, ClinVar RCV005260327, AlphaMissense 0.14, CADD 22.60, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases; not provided
- L11P (p.Leu11Pro), TOPMed rs1815439152, AlphaMissense 0.90, CADD 24.20, Uncertain significance, Inborn genetic diseases
- L11Q (p.Leu11Gln), rs1815439152, ClinGen CA372693910, ClinVar RCV003616848, AlphaMissense 0.90, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- L11V (p.Leu11Val), gnomAD rs1303764899, CADD 22.40, PolyPhen-2 0.65
- Q12E (p.Gln12Glu), rs2130746066, ClinGen CA372693903, ClinVar RCV002861456, Ensembl rs2130746066, CADD 22.30, PolyPhen-2 0.56, Uncertain significance, Baller-Gerold syndrome
- Q12H (p.Gln12His), rs2538134118, ClinGen CA372693890, ClinVar RCV002770901, CADD 22.20, PolyPhen-2 0.94, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- Q12R (p.Gln12Arg), rs905077826, ClinGen CA187691302, ClinVar RCV001321082, ClinVar RCV005470746, CADD 11.80, PolyPhen-2 0.09, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- A13* (p.Ala13Ter), rs2130746001, ClinGen CA2499219204, ClinVar RCV001381497, Ensembl rs2130746001, Pathogenic
- A13E (p.Ala13Glu), TOPMed rs1489214833, gnomAD rs1489214833, CADD 4.13, PolyPhen-2 0.06, Uncertain significance
- A13G (p.Ala13Gly), TOPMed rs1489214833, gnomAD rs1489214833, CADD 17.30, PolyPhen-2 0.77, Uncertain significance
- A13P (p.Ala13Pro), rs747356389, ClinGen CA16612434, ClinVar RCV000464454, ClinVar RCV005712172, CADD 20.20, PolyPhen-2 0.89, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- A13S (p.Ala13Ser), rs747356389, ClinGen CA4949512, ClinVar RCV000634257, ClinVar RCV005470473, CADD 15.70, PolyPhen-2 0.56, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- A13V (p.Ala13Val), rs1489214833, ClinGen CA372693877, ClinVar RCV000824127, TOPMed rs1489214833, CADD 16.30, PolyPhen-2 0.65, Uncertain significance, Baller-Gerold syndrome
- W14* (p.Trp14Ter), Ensembl rs1815435906, CADD 37.00, Pathogenic
- W14G (p.Trp14Gly), rs758579262, ClinGen CA372693864, ClinVar RCV002041836, ClinVar RCV005722519, AlphaMissense 0.70, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- W14L (p.Trp14Leu), Ensembl rs1815435906, CADD 23.70, PolyPhen-2 0.32
- W14R (p.Trp14Arg), rs758579262, ClinGen CA372693865, ClinVar RCV000794639, ExAC rs758579262, AlphaMissense 0.70, CADD 26.50, Uncertain significance, Baller-Gerold syndrome
- E15G (p.Glu15Gly), NCI-TCGA TCGA novel, Ensembl rs2130745850, CADD 25.70, PolyPhen-2 0.98, Variant assessed as somatic; moderate impact.
- E15K (p.Glu15Lys), rs1476550062, ClinGen CA372693842, ClinVar RCV003080355, TOPMed rs1476550062, CADD 25.20, PolyPhen-2 0.65, Uncertain significance, Baller-Gerold syndrome
- R16C (p.Arg16Cys), TOPMed rs1166338293, gnomAD rs1166338293, CADD 23.20, PolyPhen-2 0.17, Uncertain significance, Inborn genetic diseases
- R16H (p.Arg16His), rs1483243361, ClinGen CA372693805, ClinVar RCV003617198, gnomAD rs1483243361, CADD 23.60, PolyPhen-2 0.95, Uncertain significance, Baller-Gerold syndrome
- R16S (p.Arg16Ser), rs1166338293, ClinGen CA372693812, ClinVar RCV002775509, TOPMed rs1166338293, CADD 19.40, PolyPhen-2 0.27, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- A17T (p.Ala17Thr), rs2538133699, ClinGen CA372693795, ClinVar RCV002586034, ClinVar RCV005264237, CADD 16.50, PolyPhen-2 0.34, Uncertain significance, Baller-Gerold syndrome
- A17V (p.Ala17Val), rs1815433589, ClinGen CA372693786, ClinVar RCV001321708, ClinVar RCV005262392, CADD 23.30, PolyPhen-2 0.85, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- F18L (p.Phe18Leu), TOPMed rs1291744875, CADD 23.40, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- F18S (p.Phe18Ser), rs2130745700, ClinGen CA372693777, ClinVar RCV001870988, Ensembl rs2130745700, CADD 25.40, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- F18V (p.Phe18Val), TOPMed rs941281893, gnomAD rs941281893, Uncertain significance
- R19* (p.Arg19Ter), rs1401366375, ClinGen CA372693767, ClinVar RCV001388955, gnomAD rs1401366375, CADD 33.00, Pathogenic
- R19G (p.Arg19Gly), rs1401366375, ClinGen CA372693771, ClinVar RCV001307586, gnomAD rs1401366375, CADD 13.30, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome
- R19L (p.Arg19Leu), rs1231840928, ClinGen CA372693759, ClinVar RCV002838634, TOPMed rs1231840928, CADD 7.34, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome
- R19Q (p.Arg19Gln), rs1231840928, ClinGen CA372693765, ClinVar RCV001303564, TOPMed rs1231840928, CADD 10.20, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome
- R20P (p.Arg20Pro), rs990552711, ClinGen CA187691286, ClinVar RCV000706744, ClinVar RCV005260369, CADD 18.70, PolyPhen-2 0.79, Uncertain significance, not provided; Baller-Gerold syndrome; Inborn genetic diseases
- R20Q (p.Arg20Gln), rs990552711, ClinGen CA372693753, ClinVar RCV002909596, ClinVar RCV005473261, CADD 3.57, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- R20W (p.Arg20Trp), rs1564812906, ClinGen CA372693755, ClinVar RCV000688447, Ensembl rs1564812906, CADD 23.00, PolyPhen-2 0.86, Uncertain significance, Baller-Gerold syndrome
- Q21* (p.Gln21Ter), Ensembl rs2130745518, CADD 34.00
- Q21H (p.Gln21His), Ensembl rs2130745479, CADD 22.30, PolyPhen-2 0.75
- Q21R (p.Gln21Arg), rs2130745502, ClinGen CA372693731, ClinVar RCV002005068, Ensembl rs2130745502, CADD 0.66, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome
- R22C (p.Arg22Cys), rs960379510, ClinGen CA187691280, ClinVar RCV001934949, gnomAD rs960379510, CADD 21.90, PolyPhen-2 0.02, Uncertain significance, Baller-Gerold syndrome
- R22G (p.Arg22Gly), gnomAD rs960379510, CADD 21.70, PolyPhen-2 0.23, Uncertain significance, Inborn genetic diseases
- R22H (p.Arg22His), rs2130745435, ClinGen CA372693706, ClinVar RCV002578731, CADD 1.32, PolyPhen-2 0.00, Conflicting interpretations, Inborn genetic diseases; Baller-Gerold syndrome
- R22P (p.Arg22Pro), Ensembl rs2130745435
- G23R (p.Gly23Arg), ExAC rs752845462, gnomAD rs752845462, CADD 17.70, PolyPhen-2 0.40
- G23V (p.Gly23Val), rs1815429028, ClinGen CA372693683, ClinVar RCV001217893, Ensembl rs1815429028, CADD 22.50, PolyPhen-2 0.95, Uncertain significance, Baller-Gerold syndrome
- G23W (p.Gly23Trp), ExAC rs752845462, gnomAD rs752845462, CADD 24.70, PolyPhen-2 1.00
- R24P (p.Arg24Pro), TOPMed rs1296633763, gnomAD rs1296633763, CADD 25.20, PolyPhen-2 0.99, Uncertain significance
- R24Q (p.Arg24Gln), rs1296633763, ClinGen CA372693674, ClinVar RCV001228038, ClinVar RCV004960590, CADD 24.70, PolyPhen-2 0.68, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- R24W (p.Arg24Trp), rs1586835635, ClinGen CA372693676, ClinVar RCV001992259, Ensembl rs1586835635, CADD 25.50, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- R25* (p.Arg25Ter), rs2130745290, ClinGen CA372693666, ClinVar RCV003506860, Ensembl rs2130745290, CADD 36.00, Pathogenic
- R25G (p.Arg25Gly), Ensembl rs2130745290, CADD 24.70, PolyPhen-2 0.97, Pathogenic
- P26A (p.Pro26Ala), rs2130745257, ClinGen CA372693647, ClinVar RCV001935179, Ensembl rs2130745257, CADD 23.90, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- P26R (p.Pro26Arg), rs1815427295, ClinGen CA372693643, ClinVar RCV001221359, TOPMed rs1815427295, CADD 24.40, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- P26S (p.Pro26Ser), rs2130745257, ClinGen CA372693649, ClinVar RCV003001944, CADD 24.20, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- S27G (p.Ser27Gly), rs1815426930, ClinGen CA372693629, ClinVar RCV003865797, ClinVar RCV005715080, CADD 8.14, PolyPhen-2 0.00, Conflicting interpretations, Inborn genetic diseases; Baller-Gerold syndrome
- S27N (p.Ser27Asn), rs1815426587, ClinGen CA372693623, ClinVar RCV001239331, TOPMed rs1815426587, CADD 0.33, PolyPhen-2 0.04, Uncertain significance, Baller-Gerold syndrome
- Q28* (p.Gln28Ter), rs794726912, ClinGen CA274910, ClinVar RCV000173328, Ensembl rs794726912, AlphaMissense 0.08, CADD 36.00, Pathogenic
- Q28E (p.Gln28Glu), rs794726912, ClinGen CA372693610, ClinVar RCV003616433, AlphaMissense 0.08, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome
- Q28H (p.Gln28His), rs1586835584, ClinGen CA372693606, ClinVar RCV001040174, ClinVar RCV001356618, CADD 26.90, PolyPhen-2 0.95, Uncertain significance, Baller-Gerold syndrome
- Q28K (p.Gln28Lys), rs794726912, ClinGen CA16612304, ClinVar RCV000477529, Ensembl rs794726912, AlphaMissense 0.08, CADD 10.80, Uncertain significance, Baller-Gerold syndrome
- D29E (p.Asp29Glu), rs2130743879, ClinGen CA372693549, ClinVar RCV002882348, Ensembl rs2130743879, CADD 0.49, PolyPhen-2 0.01, Likely benign, Inborn genetic diseases
- D29G (p.Asp29Gly), rs2538130001, ClinGen CA372693557, ClinVar RCV002676611, CADD 16.00, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome
- D29N (p.Asp29Asn), ExAC rs763857743, gnomAD rs763857743, CADD 22.90, PolyPhen-2 0.01
- D30E (p.Asp30Glu), TOPMed rs925971380, gnomAD rs925971380, CADD 25.90, PolyPhen-2 1.00, Likely benign
- D30G (p.Asp30Gly), rs2538129846, ClinGen CA372693537, ClinVar RCV003616867, CADD 27.90, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- D30H (p.Asp30His), rs934908599, ClinGen CA372693545, ClinVar RCV003616693, ClinVar RCV005475432, AlphaMissense 0.62, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- D30N (p.Asp30Asn), rs934908599, ClinGen CA187691159, ClinVar RCV000820994, gnomAD rs934908599, AlphaMissense 0.62, CADD 25.70, Uncertain significance, Baller-Gerold syndrome
- V31A (p.Val31Ala), rs904809747, ClinGen CA372693510, ClinVar RCV003081388, CADD 25.60, PolyPhen-2 0.98, Uncertain significance, Baller-Gerold syndrome
- V31G (p.Val31Gly), rs904809747, ClinGen CA187691145, ClinVar RCV000540021, ClinVar RCV003133310, CADD 32.00, PolyPhen-2 1.00, Uncertain significance, not provided; Baller-Gerold syndrome
- V31L (p.Val31Leu), TOPMed rs978982532, CADD 24.80, PolyPhen-2 0.99
- V31M (p.Val31Met), TOPMed rs978982532, CADD 23.80, PolyPhen-2 1.00
- E32Q (p.Glu32Gln), rs1815404112, ClinGen CA372693500, ClinVar RCV001321879, Ensembl rs1815404112, CADD 19.10, PolyPhen-2 0.12, Uncertain significance, Baller-Gerold syndrome
- A33S (p.Ala33Ser), Ensembl rs2130743747, CADD 22.00, PolyPhen-2 0.84
- A33V (p.Ala33Val), rs2130743732, ClinGen CA372693468, ClinVar RCV003508721, Ensembl rs2130743732, CADD 21.40, PolyPhen-2 0.34, Uncertain significance, Baller-Gerold syndrome
- A34G (p.Ala34Gly), Ensembl rs2130743694, Uncertain significance
- A34V (p.Ala34Val), rs2130743694, ClinGen CA372693448, ClinVar RCV003615734, ClinVar RCV004953508, CADD 28.00, PolyPhen-2 0.93, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- P35A (p.Pro35Ala), rs1304842985, ClinGen CA372693442, ClinVar RCV001299263, ClinVar RCV004960706, AlphaMissense 0.14, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- P35Q (p.Pro35Gln), NCI-TCGA TCGA novel, CADD 28.10, PolyPhen-2 0.99, Variant assessed as somatic; moderate impact.
- P35R (p.Pro35Arg), rs2538129384, ClinGen CA372693428, ClinVar RCV003881991, Uncertain significance, Baller-Gerold syndrome
- E36A (p.Glu36Ala), TOPMed rs1815401805, CADD 24.90, PolyPhen-2 0.83, Uncertain significance, Inborn genetic diseases
- E36K (p.Glu36Lys), rs1815402122, ClinGen CA372693422, ClinVar RCV003616013, ClinVar RCV005475418, CADD 23.50, PolyPhen-2 0.75, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- E36Q (p.Glu36Gln), rs1815402122, ClinGen CA372693420, ClinVar RCV001219791, Ensembl rs1815402122, CADD 22.20, PolyPhen-2 0.22, Uncertain significance, Baller-Gerold syndrome
- E37D (p.Glu37Asp), Ensembl rs2130743551, CADD 4.32, PolyPhen-2 0.02, Uncertain significance, Inborn genetic diseases
- E37K (p.Glu37Lys), rs1395545206, ClinGen CA372693403, ClinVar RCV001040386, TOPMed rs1395545206, CADD 24.80, PolyPhen-2 0.45, Uncertain significance, Baller-Gerold syndrome
- T38N (p.Thr38Asn), rs1348040384, ClinGen CA372693375, ClinVar RCV001367172, ClinVar RCV003444847, CADD 23.20, PolyPhen-2 0.97, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome; Rothmund-Thomson syndrome type
- T38P (p.Thr38Pro), rs2538129116, ClinGen CA372693379, ClinVar RCV002962527, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- T38S (p.Thr38Ser), rs1348040384, ClinGen CA372693372, ClinVar RCV000795674, ClinVar RCV004958094, CADD 23.20, PolyPhen-2 0.94, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R39H (p.Arg39His), rs1815399637, ClinGen CA372693360, ClinVar RCV001203556, ClinVar RCV005722314, CADD 24.60, PolyPhen-2 0.97, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R39L (p.Arg39Leu), rs1815399637, ClinGen CA372693355, ClinVar RCV001362740, Ensembl rs1815399637, CADD 24.40, PolyPhen-2 0.94, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R39S (p.Arg39Ser), rs1815399959, ClinGen CA372693366, ClinVar RCV001349727, ClinVar RCV005262423, CADD 25.30, PolyPhen-2 0.91, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- A40T (p.Ala40Thr), rs2538128894, ClinGen CA372693351, ClinVar RCV003508325, CADD 34.00, PolyPhen-2 0.91, Uncertain significance, Baller-Gerold syndrome
- A40V (p.Ala40Val), rs1320945281, ClinGen CA372692804, ClinVar RCV001910753, gnomAD rs1320945281, CADD 24.90, PolyPhen-2 0.93, Uncertain significance, Baller-Gerold syndrome
- L41F (p.Leu41Phe), rs776083037, ClinGen CA4949479, ClinVar RCV001895042, ClinVar RCV005262571, CADD 27.10, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- L41I (p.Leu41Ile), rs776083037, ClinGen CA372692803, ClinVar RCV001201415, ExAC rs776083037, CADD 26.00, PolyPhen-2 0.98, Uncertain significance, Baller-Gerold syndrome
- L41P (p.Leu41Pro), rs1259365630, ClinGen CA372692798, ClinVar RCV002814649, TOPMed rs1259365630, CADD 29.50, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- Y42* (p.Tyr42Ter), rs1427556033, ClinGen CA372692785, ClinVar RCV001382117, gnomAD rs1427556033, CADD 39.00, Pathogenic
- Y42C (p.Tyr42Cys), rs1416508252, ClinGen CA372692789, ClinVar RCV001867498, gnomAD rs1416508252, CADD 28.20, PolyPhen-2 0.99, Uncertain significance, Baller-Gerold syndrome
- Y42H (p.Tyr42His), rs2538124704, ClinGen CA372692792, ClinVar RCV003616453, CADD 23.80, PolyPhen-2 0.32, Uncertain significance, Baller-Gerold syndrome
- Y42S (p.Tyr42Ser), gnomAD rs1416508252, Uncertain significance
- R43L (p.Arg43Leu), rs1169021603, ClinGen CA372692775, ClinVar RCV002025178, gnomAD rs1169021603, CADD 27.10, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- R43P (p.Arg43Pro), rs1169021603, ClinGen CA372692777, ClinVar RCV001960032, ClinVar RCV005262616, CADD 28.10, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R43Q (p.Arg43Gln), rs1169021603, ClinGen CA372692779, ClinVar RCV000694721, gnomAD rs1169021603, CADD 27.60, PolyPhen-2 1.00, Uncertain significance, Baller-Gerold syndrome
- R43W (p.Arg43Trp), rs761113605, ClinGen CA4949477, ClinVar RCV000469456, ClinVar RCV002272240, CADD 32.00, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; not provided; Baller-Gerold syndrome
- E44* (p.Glu44Ter), gnomAD rs1451202168, CADD 38.00
- Y45* (p.Tyr45Ter), rs1586833765, ClinGen CA372692748, ClinVar RCV002913443, CADD 36.00, Pathogenic
- Y45C (p.Tyr45Cys), rs748521485, ClinGen CA4949475, ClinVar RCV003617269, ClinVar RCV005475455, CADD 25.20, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- Y45F (p.Tyr45Phe), rs748521485, ClinGen CA4949476, ClinVar RCV000634237, ClinVar RCV004025443, CADD 24.20, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R46C (p.Arg46Cys), rs1268307700, ClinGen CA372692743, ClinVar RCV000794205, ClinVar RCV005260388, CADD 24.20, PolyPhen-2 0.93, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R46G (p.Arg46Gly), rs1268307700, ClinGen CA372692744, ClinVar RCV003615551, ClinVar RCV005264500, CADD 21.30, PolyPhen-2 0.08, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- R46H (p.Arg46His), TOPMed rs1211911104, gnomAD rs1211911104, CADD 24.70, PolyPhen-2 0.93
- R46L (p.Arg46Leu), TOPMed rs1211911104, gnomAD rs1211911104, CADD 24.50, PolyPhen-2 0.85
- R46S (p.Arg46Ser), rs1268307700, ClinGen CA372692746, ClinVar RCV000701297, ClinVar RCV004958032, CADD 21.20, PolyPhen-2 0.14, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- T47A (p.Thr47Ala), ExAC rs779041769, TOPMed rs779041769, gnomAD rs779041769, CADD 0.22, PolyPhen-2 0.00, Likely benign, Inborn genetic diseases
- T47I (p.Thr47Ile), gnomAD rs1229615549, CADD 7.15, PolyPhen-2 0.00
- T47S (p.Thr47Ser), rs779041769, ClinGen CA4949474, ClinVar RCV001360708, ClinVar RCV005470794, CADD 0.49, PolyPhen-2 0.00, Uncertain significance, Inborn genetic diseases
- L48P (p.Leu48Pro), gnomAD rs1231871779, CADD 24.50, PolyPhen-2 1.00
- L48V (p.Leu48Val), rs1273649766, ClinGen CA372692723, ClinVar RCV002846631, ClinVar RCV005636618, CADD 23.10, PolyPhen-2 0.99, Uncertain significance, not provided; Baller-Gerold syndrome
- K49N (p.Lys49Asn), rs1815360727, ClinGen CA372692703, ClinVar RCV001898495, ClinVar RCV005262589, AlphaMissense 0.88, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- K49Q (p.Lys49Gln), rs1046890336, ClinGen CA16612291, ClinVar RCV000460578, ClinVar RCV001584145, CADD 23.70, PolyPhen-2 0.88, Uncertain significance, Inborn genetic diseases; not provided; Baller-Gerold syndrome
- K49R (p.Lys49Arg), rs1432766447, ClinGen CA372692709, ClinVar RCV002299576, TOPMed rs1432766447, CADD 22.60, PolyPhen-2 0.83, Uncertain significance, Baller-Gerold syndrome
- R50C (p.Arg50Cys), rs1325079305, ClinGen CA372692699, ClinVar RCV000813721, ClinVar RCV004958140, CADD 21.60, PolyPhen-2 0.83, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R50G (p.Arg50Gly), rs1325079305, ClinGen CA372692701, ClinVar RCV000500207, ClinVar RCV005470441, CADD 11.50, PolyPhen-2 0.01, Uncertain significance, not specified; Inborn genetic diseases
- R50H (p.Arg50His), rs551963857, ClinGen CA4949472, ClinVar RCV001306962, ClinVar RCV004960731, CADD 12.60, PolyPhen-2 0.01, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- R50S (p.Arg50Ser), TOPMed rs1325079305, gnomAD rs1325079305, CADD 14.40, PolyPhen-2 0.23, Uncertain significance, Inborn genetic diseases
- T51I (p.Thr51Ile), rs1308346776, ClinGen CA372692685, ClinVar RCV001035796, ClinVar RCV005262172, CADD 7.45, PolyPhen-2 0.01, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- T51P (p.Thr51Pro), rs530662883, ClinGen CA4949471, ClinVar RCV002809805, 1000Genomes rs530662883, CADD 8.62, PolyPhen-2 0.30, Uncertain significance, Inborn genetic diseases
- T52A (p.Thr52Ala), TOPMed rs1331238003, CADD 0.15, PolyPhen-2 0.00, Uncertain significance, Inborn genetic diseases
- T52M (p.Thr52Met), rs878854641, ClinGen CA10582573, ClinVar RCV000228236, ClinVar RCV003430785, CADD 10.30, PolyPhen-2 0.01, Uncertain significance, Inborn genetic diseases; not provided; Baller-Gerold syndrome
- G53A (p.Gly53Ala), rs1381844543, ClinGen CA372692670, ClinVar RCV001309926, ClinVar RCV005722380, CADD 1.72, PolyPhen-2 0.02, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- G53D (p.Gly53Asp), Ensembl rs1381844543, CADD 3.87, PolyPhen-2 0.02, Uncertain significance
- G53R (p.Gly53Arg), gnomAD rs1171989536, CADD 0.30, PolyPhen-2 0.01, Uncertain significance
- G53S (p.Gly53Ser), rs1171989536, ClinGen CA372692676, ClinVar RCV000806981, ClinVar RCV006367367, CADD 0.22, PolyPhen-2 0.02, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- G53V (p.Gly53Val), rs1381844543, ClinGen CA372692669, ClinVar RCV001907944, ClinVar RCV005472958, CADD 5.62, PolyPhen-2 0.03, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- Q54H (p.Gln54His), rs1815354847, ClinGen CA372692654, ClinVar RCV002966201, ClinVar RCV005473270, CADD 10.60, PolyPhen-2 0.03, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- Q54P (p.Gln54Pro), rs35198096, ClinGen CA372692660, ClinVar RCV002009954, 1000Genomes rs35198096, AlphaMissense 0.07, PolyPhen-2 0.00, Uncertain significance, Baller-Gerold syndrome
- Q54R (p.Gln54Arg), rs35198096, ClinGen CA161871, ClinVar RCV000121958, ClinVar RCV000444390, AlphaMissense 0.07, CADD 6.66, Benign/Likely benign, Rothmund-Thomson syndrome type 2; Hereditary cancer-predisposing syndrome; not s
- A55F (p.Ala55Phe), rs1815354359, ClinGen CA1826369905, ClinVar RCV001325327, Ensembl rs1815354359, Uncertain significance, Baller-Gerold syndrome
- A55V (p.Ala55Val), Ensembl rs2130740979, CADD 15.20, PolyPhen-2 0.10
- G56C (p.Gly56Cys), rs777837612, ClinGen CA372692641, ClinVar RCV000795196, ClinVar RCV006367330, CADD 17.90, PolyPhen-2 0.24, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- G56S (p.Gly56Ser), rs777837612, ClinGen CA4949469, ClinVar RCV001045175, ClinVar RCV004958396, CADD 11.50, PolyPhen-2 0.08, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- G57D (p.Gly57Asp), rs2538122819, ClinGen CA372692627, ClinVar RCV002578111, ClinVar RCV005714800, CADD 6.16, PolyPhen-2 0.10, Uncertain significance, Baller-Gerold syndrome; Inborn genetic diseases
- G57S (p.Gly57Ser), rs1060501373, ClinGen CA16612564, ClinVar RCV000463422, ClinVar RCV004955503, CADD 12.80, PolyPhen-2 0.24, Uncertain significance, Inborn genetic diseases
- G58A (p.Gly58Ala), rs1008942429, ClinGen CA187690976, ClinVar RCV001044418, ClinVar RCV005262193, CADD 7.96, PolyPhen-2 0.04, Uncertain significance, Inborn genetic diseases; Baller-Gerold syndrome
- G58E (p.Gly58Glu), rs1008942429, ClinGen CA187690981, ClinVar RCV003056619, Ensembl rs1008942429, CADD 9.18, PolyPhen-2 0.03, Uncertain significance, Baller-Gerold syndrome
Public RECQL4 analysis runs
- RECQL4 analysis run — RECQL4 (3,711 variants) — completed 2026-08-21