CHD7 (Q9P2D1) variants and mutations
CHD7 (also known as Q9P2D1) is a human protein-coding gene encoding an ATP-dependent chromatin remodeler protein. It regulates chromatin accessibility and developmental gene programs across multiple embryonic tissues. Haploinsufficiency is the major cause of CHARGE syndrome, which can affect the eyes, heart, choanae, growth, genital development, ears, and nervous system. This analysis covers 4,212 CHD7 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes CHARGE syndrome, hypogonadotropic hypogonadism 5 with or without anosmia, and CHD7-related CHARGE syndrome. Example CHD7 variants include A2E, A2G, and A2T.
Variant analysis overview
- Gene: CHD7
- Protein: Q9P2D1
- UniProt accession: Q9P2D1
- Organism: Homo sapiens
- Variants analyzed: 4212
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 3,764 unspecified-consequence records; 213 missense variants; 211 synonymous variants; 6 frameshift variants; 13 in-frame deletions; 1 in-frame insertions; 1 stop-gained variants; 3 substitution
- Prediction scores: 3,496 variants have prediction scores (83% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: CHARGE syndrome, hypogonadotropic hypogonadism 5 with or without anosmia, CHD7-related CHARGE syndrome, hypogonadotropic hypogonadism, Kallmann syndrome, adolescent idiopathic scoliosis, hereditary disease, neurodegenerative disease, Immunodeficiency, immune system disorder, immunodeficiency disease, hypothyroidism.
Protein structure and variant hotspots
- Protein features: 4 domains; 1 binding sites; 23 post-translational modification sites.
- Structural context: 487 variants have structural context.
- PTM context: 30 variants overlap post-translational modification sites.
- Experimental data: 41 protein positions have experimental scores. Source: CHD7 BRK domain domainome 1.0.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable CHD7 variants
Examples include A2E, A2G, A2T, A2V, A2A, D3N, D3E, P4L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2E (p.Ala2Glu), rs1809000474, ClinGen CA371294999, ClinVar RCV001329009, Ensembl rs1809000474, REVEL 0.24, MetaLR 0.14, Likely pathogenic, Hypogonadotropic hypogonadism 5 with or without anosmia
- A2G (p.Ala2Gly), rs1809000474, ClinGen CA371295000, ClinVar RCV002357971, Uncertain significance, Inborn genetic diseases
- A2T (p.Ala2Thr), cosmic curated COSV71113, gnomAD rs1468803021, REVEL 0.14, MetaLR 0.11
- A2V (p.Ala2Val), gnomAD 8-60741437-C-T, REVEL 0.19, MetaLR 0.14
- A2A (p.Ala2Ala), rs1331575367, gnomAD 8-60741438-A-G, CADD 6.42
- D3N (p.Asp3Asn), gnomAD rs1357950918, REVEL 0.34, MetaLR 0.46, Benign, CHARGE syndrome
- D3E (p.Asp3Glu), gnomAD 8-60741441-T-A, REVEL 0.36, MetaLR 0.32
- P4L (p.Pro4Leu), ESP rs370099061, ExAC rs370099061, TOPMed rs370099061, gnomAD rs370099061, REVEL 0.44, MetaLR 0.45
- P4Q (p.Pro4Gln), gnomAD 8-60741443-C-A, REVEL 0.43, MetaLR 0.61
- G5E (p.Gly5Glu), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10141, MetaLR 0.32, MetaSVM -0.44, Variant assessed as somatic; moderate impact.
- G5R (p.Gly5Arg), rs886063031, ClinGen CA10625669, ClinVar RCV000389791, Ensembl rs886063031, REVEL 0.21, MetaLR 0.20, Uncertain significance, Hypogonadotropic hypogonadism 5 with or without anosmia
- M6I (p.Met6Ile), rs775507949, ClinGen CA4759253, ClinVar RCV003603027, ExAC rs775507949, REVEL 0.19, MetaLR 0.19, Benign, CHARGE syndrome
- M6T (p.Met6Thr), Ensembl rs1424623930, REVEL 0.32, MetaLR 0.16
- M7I (p.Met7Ile), Ensembl rs1809002113, REVEL 0.38, MetaLR 0.48
- M7T (p.Met7Thr), TOPMed rs1219952010, MetaLR 0.45, MetaSVM -0.08
- S8C (p.Ser8Cys), rs2487256672, ClinGen CA371295087, ClinVar RCV002508512, Uncertain significance, not provided
- S8N (p.Ser8Asn), Ensembl rs1809002330, MetaLR 0.17, MetaSVM -0.75
- S8G (p.Ser8Gly), gnomAD 8-60741454-A-G, REVEL 0.23, MetaLR 0.18
- S8T (p.Ser8Thr), gnomAD 8-60741455-G-C, REVEL 0.15, MetaLR 0.20
- L9V (p.Leu9Val), gnomAD 8-60741457-C-G, REVEL 0.08, MetaLR 0.25
- F10I (p.Phe10Ile), NCI-TCGA TCGA novel, MetaLR 0.45, MetaSVM -0.08, Variant assessed as somatic; moderate impact.
- F10L (p.Phe10Leu), gnomAD 8-60741457-CT-C, CADD 26.10
- F10Y (p.Phe10Tyr), gnomAD 8-60741461-T-A, REVEL 0.25, MetaLR 0.43
- G11G (p.Gly11Gly), rs560030949, gnomAD 8-60741465-C-T, CADD 11.50
- E12D (p.Glu12Asp), gnomAD rs1809003344, REVEL 0.21, MetaLR 0.05
- E12K (p.Glu12Lys), rs769949098, ClinGen CA4759255, NCI-TCGA Cosmic COSV7110, cosmic curated COSV71107, REVEL 0.34, MetaLR 0.15, Likely benign, CHARGE syndrome
- E12V (p.Glu12Val), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10141, MetaLR 0.19, MetaSVM -0.70, Variant assessed as somatic; moderate impact.
- D13Y (p.Asp13Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G14G (p.Gly14Gly), rs1215319146, gnomAD 8-60741474-G-A, CADD 10.60
- N15Y (p.Asn15Tyr), gnomAD 8-60741475-A-T, REVEL 0.24, MetaLR 0.35
- I16V (p.Ile16Val), gnomAD rs867440888, REVEL 0.16, MetaLR 0.13
- I16F (p.Ile16Phe), gnomAD 8-60741478-A-T, REVEL 0.20, MetaLR 0.13
- F17F (p.Phe17Phe), gnomAD 8-60741483-C-T, CADD 12.10
- S18N (p.Ser18Asn), rs1280305079, ClinGen CA371295229, ClinVar RCV001233272, gnomAD rs1280305079, REVEL 0.06, MetaLR 0.18, Uncertain significance, CHARGE syndrome
- S18S (p.Ser18Ser), rs2150577330, gnomAD 8-60741486-T-C, CADD 6.44
- E19D (p.Glu19Asp), rs1809004250, ClinGen CA371295278, ClinVar RCV001034858, Ensembl rs1809004250, Uncertain significance, CHARGE syndrome
- G20D (p.Gly20Asp), ExAC rs770139962, gnomAD rs770139962, REVEL 0.17, MetaLR 0.09
- G20S (p.Gly20Ser), cosmic curated COSV10611, TOPMed rs1809004441, MetaLR 0.09, MetaSVM -1.02
- G20G (p.Gly20Gly), gnomAD 8-60741492-T-C, CADD 8.65
- L21R (p.Leu21Arg), gnomAD rs1475653682, REVEL 0.49, MetaLR 0.54
- L21S (p.Leu21Ser), rs2487257216, ClinGen CA2580078420, ClinVar RCV002509959, Uncertain significance, not provided
- L21L (p.Leu21Leu), gnomAD 8-60741495-T-C, CADD 0.76
- E22G (p.Glu22Gly), TOPMed rs1361545618, gnomAD rs1361545618, REVEL 0.40, MetaLR 0.40, Uncertain significance, CHARGE syndrome
- E22Q (p.Glu22Gln), NCI-TCGA Cosmic COSV7111, cosmic curated COSV71111, MetaLR 0.42, MetaSVM -0.17, Variant assessed as somatic; moderate impact.
- E22E (p.Glu22Glu), gnomAD 8-60741498-A-G, CADD 8.62
- E22D (p.Glu22Asp), gnomAD 8-60741498-A-C, REVEL 0.18, MetaLR 0.25
- G23S (p.Gly23Ser), rs763058890, ClinGen CA4759257, ClinVar RCV001060152, ExAC rs763058890, REVEL 0.04, MetaLR 0.11, Likely benign, CHARGE syndrome
- G23V (p.Gly23Val), gnomAD rs1276525542, REVEL 0.18, MetaLR 0.11
- G23G (p.Gly23Gly), gnomAD 8-60741501-C-G, CADD 8.14
- L24F (p.Leu24Phe), rs1406914349, ClinGen CA371295378, ClinVar RCV002575202, ClinVar RCV005542754, REVEL 0.29, MetaLR 0.56, Uncertain significance, Inborn genetic diseases; CHARGE syndrome
- L24V (p.Leu24Val), gnomAD 8-60741502-C-G, REVEL 0.26, MetaLR 0.55
- L24L (p.Leu24Leu), rs267601960, gnomAD 8-60741504-C-G, CADD 0.69
- G25E (p.Gly25Glu), NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7111, cosmic curated COSV71113, MetaLR 0.15, MetaSVM -0.84, Variant assessed as somatic; moderate impact.
- G25R (p.Gly25Arg), rs759887905, ClinGen CA4759260, NCI-TCGA Cosmic COSV7111, cosmic curated COSV71113, REVEL 0.23, MetaLR 0.21, Conflicting interpretations, not provided; Inborn genetic diseases; CHARGE syndrome
- E26* (p.Glu26Ter), NCI-TCGA Cosmic COSV7110, cosmic curated COSV71107, Variant assessed as somatic; high impact.
- C27R (p.Cys27Arg), gnomAD 8-60741511-T-C, REVEL 0.30, MetaLR 0.21
- C27Y (p.Cys27Tyr), gnomAD 8-60741512-G-A, REVEL 0.34, MetaLR 0.25
- G28A (p.Gly28Ala), gnomAD rs1809007164, REVEL 0.31, MetaLR 0.36, Uncertain significance
- G28D (p.Gly28Asp), rs1809007164, ClinGen CA371295482, ClinVar RCV001214490, gnomAD rs1809007164, Uncertain significance, CHARGE syndrome
- G28R (p.Gly28Arg), TOPMed rs1809007006, REVEL 0.46, MetaLR 0.49
- G28G (p.Gly28Gly), gnomAD 8-60741516-T-A, CADD 6.80
- Y29C (p.Tyr29Cys), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10141, MetaLR 0.29, MetaSVM -0.47, Uncertain significance, CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- P30L (p.Pro30Leu), rs768014298, ClinGen CA4759261, NCI-TCGA Cosmic COSV1014, NCI-TCGA Cosmic COSV7110, REVEL 0.18, MetaLR 0.19, Conflicting interpretations, not specified; not provided; CHARGE syndrome
- P30T (p.Pro30Thr), gnomAD 8-60741520-C-A, REVEL 0.14, MetaLR 0.21
- P30S (p.Pro30Ser), gnomAD 8-60741520-C-T, REVEL 0.14, MetaLR 0.21
- P30R (p.Pro30Arg), gnomAD 8-60741521-C-G, REVEL 0.20, MetaLR 0.20
- P30P (p.Pro30Pro), rs374464240, gnomAD 8-60741522-G-A, CADD 5.77
- E31* (p.Glu31Ter), rs2487257832, ClinGen CA371295523, ClinVar RCV002942341, Pathogenic
- E31Q (p.Glu31Gln), gnomAD 8-60741523-G-C, REVEL 0.18, MetaLR 0.08
- E31E (p.Glu31Glu), rs1809007917, gnomAD 8-60741525-A-G, CADD 10.40
- N32S (p.Asn32Ser), ExAC rs755642503, gnomAD rs755642503, REVEL 0.08, MetaLR 0.07
- N32D (p.Asn32Asp), gnomAD 8-60741526-A-G, REVEL 0.04, MetaLR 0.09
- P33L (p.Pro33Leu), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10141, MetaLR 0.20, MetaSVM -0.84, Variant assessed as somatic; moderate impact.
- P33R (p.Pro33Arg), rs763572916, ClinGen CA4759263, ClinVar RCV001719089, ClinVar RCV002066678, REVEL 0.08, MetaLR 0.20, Benign/Likely benign, Inborn genetic diseases; not provided; CHARGE syndrome
- V34I (p.Val34Ile), TOPMed rs1023797858, REVEL 0.10, MetaLR 0.16
- V34L (p.Val34Leu), gnomAD 8-60741532-G-T, REVEL 0.12, MetaLR 0.16
- V34A (p.Val34Ala), gnomAD 8-60741533-T-C, REVEL 0.14, MetaLR 0.16
- V34V (p.Val34Val), rs1170310957, gnomAD 8-60741534-A-G, CADD 9.61
- N35K (p.Asn35Lys), TOPMed rs1809009237, REVEL 0.07, MetaLR 0.07
- P36R (p.Pro36Arg), rs2150577446, ClinGen CA371295634, ClinVar RCV001752364, Ensembl rs2150577446, Uncertain significance, not provided
- P36S (p.Pro36Ser), rs1426578628, ClinGen CA371295620, ClinVar RCV002771493, TOPMed rs1426578628, REVEL 0.04, MetaLR 0.10, Benign, CHARGE syndrome
- P36L (p.Pro36Leu), gnomAD 8-60741539-C-T, REVEL 0.07, MetaLR 0.19
- M37L (p.Met37Leu), rs1416709395, UniProt VAR 068374, TOPMed rs1416709395, gnomAD rs1416709395, REVEL 0.21, MetaLR 0.07, Likely benign
- M37T (p.Met37Thr), rs1809009948, ClinGen CA371295654, ClinVar RCV003435503, ClinVar RCV003603165, REVEL 0.23, MetaLR 0.18, Uncertain significance, CHARGE syndrome; not provided
- M37V (p.Met37Val), rs1416709395, ClinGen CA371295642, ClinVar RCV001952612, ClinVar RCV002491980, REVEL 0.11, MetaLR 0.14, Conflicting interpretations, not provided; Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE sy
- G38D (p.Gly38Asp), TOPMed rs1174791970, gnomAD rs1174791970, REVEL 0.13, MetaLR 0.08
- Q39L (p.Gln39Leu), gnomAD 8-60741548-A-T, REVEL 0.23, MetaLR 0.18
- Q39H (p.Gln39His), gnomAD 8-60741549-G-T, REVEL 0.19, MetaLR 0.21
- Q40H (p.Gln40His), ExAC rs753525257, TOPMed rs753525257, gnomAD rs753525257, REVEL 0.20, MetaLR 0.17
- Q40R (p.Gln40Arg), gnomAD 8-60741551-A-G, REVEL 0.14, MetaLR 0.20
- Q40Q (p.Gln40Gln), rs753525257, gnomAD 8-60741552-A-G, CADD 5.14
- M41I (p.Met41Ile), rs756851968, UniProt VAR 068104, ExAC rs756851968, TOPMed rs756851968, REVEL 0.12, MetaLR 0.23, Benign, CHARGE syndrome
- M41T (p.Met41Thr), rs2487258362, ClinGen CA371295740, ClinVar RCV003224080, Uncertain significance, See cases
- P42S (p.Pro42Ser), rs1300386910, ClinGen CA371295756, ClinVar RCV001045599, gnomAD rs1300386910, REVEL 0.05, MetaLR 0.14, Benign, CHARGE syndrome
- P42R (p.Pro42Arg), gnomAD 8-60741555-GCCAAT, CADD 26.00
- P42L (p.Pro42Leu), gnomAD 8-60741557-C-T, REVEL 0.19, MetaLR 0.19
- I43T (p.Ile43Thr), gnomAD rs1435948803, REVEL 0.07, MetaLR 0.14
- I43V (p.Ile43Val), rs201542180, ClinGen CA4759266, ClinVar RCV000862090, ClinVar RCV001162203, REVEL 0.11, MetaLR 0.12, Conflicting interpretations, Inborn genetic diseases; Hypogonadotropic hypogonadism 5 with or without anosmia
- I43I (p.Ile43Ile), gnomAD 8-60741561-A-C, CADD 8.83
- D44G (p.Asp44Gly), gnomAD 8-60741562-GACCAA, CADD 27.10
- D44E (p.Asp44Glu), gnomAD 8-60741564-C-A, REVEL 0.09, MetaLR 0.09
- Q45R (p.Gln45Arg), ExAC rs745661321, TOPMed rs745661321, gnomAD rs745661321, REVEL 0.18, MetaLR 0.18, Uncertain significance, not provided
- G46C (p.Gly46Cys), ExAC rs758174511, TOPMed rs758174511, gnomAD rs758174511, MetaLR 0.14, MetaSVM -0.93
- G46R (p.Gly46Arg), NCI-TCGA TCGA novel, ExAC rs758174511, TOPMed rs758174511, gnomAD rs758174511, REVEL 0.14, MetaLR 0.11, Variant assessed as somatic; high impact.
- G46V (p.Gly46Val), 1000Genomes rs527378833, ExAC rs527378833, gnomAD rs527378833, REVEL 0.14, MetaLR 0.13
- G46G (p.Gly46Gly), gnomAD 8-60741570-C-T, CADD 9.82
- F47V (p.Phe47Val), rs1364452059, ClinGen CA371295903, ClinVar RCV001924508, gnomAD rs1364452059, REVEL 0.30, MetaLR 0.19, Benign, CHARGE syndrome
- F47F (p.Phe47Phe), rs2150577522, gnomAD 8-60741573-T-C, CADD 10.20
- A48T (p.Ala48Thr), gnomAD 8-60741574-G-A, REVEL 0.04, MetaLR 0.14
- A48A (p.Ala48Ala), rs1809015016, gnomAD 8-60741576-C-T, CADD 10.10
- Q51* (p.Gln51Ter), rs886039523, ClinGen CA10588456, ClinVar RCV000255545, Ensembl rs886039523, Pathogenic
- Q51H (p.Gln51His), cosmic curated COSV71115, TOPMed rs1032852484, gnomAD rs1032852484, REVEL 0.23, MetaLR 0.10
- Q51R (p.Gln51Arg), rs1809015487, ClinGen CA371296017, ClinVar RCV001226583, Ensembl rs1809015487, REVEL 0.30, MetaLR 0.14, Uncertain significance, CHARGE syndrome
- P52R (p.Pro52Arg), rs377710972, ClinGen CA177312424, ClinVar RCV003603696, ClinVar RCV005040475, REVEL 0.04, MetaLR 0.15, Conflicting interpretations, Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome
- P52S (p.Pro52Ser), TOPMed rs1203631802, gnomAD rs1203631802, REVEL 0.08, MetaLR 0.07
- P52P (p.Pro52Pro), rs398124315, gnomAD 8-60741588-A-G, CADD 1.35
- S53P (p.Ser53Pro), TOPMed rs1225403740, MetaLR 0.05, MetaSVM -1.05
- S53T (p.Ser53Thr), TOPMed rs1225403740, REVEL 0.07, MetaLR 0.08
- L54V (p.Leu54Val), rs2487259044, ClinGen CA371296072, ClinVar RCV003027973, REVEL 0.18, MetaLR 0.30, Uncertain significance, CHARGE syndrome
- L54F (p.Leu54Phe), gnomAD 8-60741592-C-T, REVEL 0.23, MetaLR 0.38
- H55R (p.His55Arg), rs121434345, ClinGen CA252065, ClinVar RCV000002116, ClinVar RCV003497830, REVEL 0.27, MetaLR 0.09, Benign, CHARGE syndrome
- H56Y (p.His56Tyr), TOPMed rs1809017261, gnomAD rs1809017261, REVEL 0.14, MetaLR 0.10
- H56R (p.His56Arg), gnomAD 8-60741599-A-G, REVEL 0.14, MetaLR 0.08
- H56H (p.His56His), rs199776087, gnomAD 8-60741600-T-C, CADD 5.98
- P57P (p.Pro57Pro), rs1196290112, gnomAD 8-60741603-T-C, CADD 10.30
- T59S (p.Thr59Ser), rs548706525, ClinGen CA4759270, NCI-TCGA Cosmic COSV1014, cosmic curated COSV10141, REVEL 0.10, MetaLR 0.09, Benign/Likely benign, not specified; CHARGE syndrome
- T59A (p.Thr59Ala), gnomAD 8-60741607-A-G, REVEL 0.15, MetaLR 0.07
- N60S (p.Asn60Ser), 1000Genomes rs749583783, ExAC rs749583783, gnomAD rs749583783, REVEL 0.15, MetaLR 0.07
- N60D (p.Asn60Asp), gnomAD 8-60741610-A-G, REVEL 0.07, MetaLR 0.09
- N60N (p.Asn60Asn), rs1177428151, gnomAD 8-60741612-T-C, CADD 7.79
- Q61* (p.Gln61Ter), NCI-TCGA Cosmic COSV7110, Variant assessed as somatic; high impact.
- Q61E (p.Gln61Glu), NCI-TCGA Cosmic COSV7110, cosmic curated COSV71108, MetaLR 0.10, MetaSVM -0.98, Uncertain significance, CHARGE syndrome
- Q61R (p.Gln61Arg), gnomAD rs1809018923, REVEL 0.14, MetaLR 0.08
- N62S (p.Asn62Ser), gnomAD rs1380251518, REVEL 0.12, MetaLR 0.08
- T64A (p.Thr64Ala), TOPMed rs1299084588, gnomAD rs1299084588, REVEL 0.06, MetaLR 0.03
- K65E (p.Lys65Glu), gnomAD 8-60741625-A-G, REVEL 0.19, MetaLR 0.34
- K65R (p.Lys65Arg), gnomAD 8-60741626-A-G, REVEL 0.20, MetaLR 0.36
- L66L (p.Leu66Leu), gnomAD 8-60741628-C-T, CADD 0.91
- L66V (p.Leu66Val), gnomAD 8-60741628-C-G, REVEL 0.19, MetaLR 0.09
- T67I (p.Thr67Ile), gnomAD 8-60741632-C-T, REVEL 0.10, MetaLR 0.11
- H68N (p.His68Asn), gnomAD rs886063032, REVEL 0.12, MetaLR 0.21, Uncertain significance, CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- H68R (p.His68Arg), rs771073528, NCI-TCGA Cosmic COSV1014, cosmic curated COSV10141, ExAC rs771073528, REVEL 0.20, MetaLR 0.19, Variant assessed as somatic; moderate impact.
- H68Y (p.His68Tyr), rs886063032, ClinGen CA10631362, ClinVar RCV000292236, ClinVar RCV002524570, REVEL 0.14, MetaLR 0.23, Uncertain significance, CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- H68H (p.His68His), rs774568204, gnomAD 8-60741636-T-C, CADD 7.77
- F69L (p.Phe69Leu), rs1809021019, ClinGen CA371296398, ClinVar RCV001230199, Ensembl rs1809021019, Uncertain significance, CHARGE syndrome
- D70G (p.Asp70Gly), rs2487259956, ClinGen CA371296412, ClinVar RCV003100296, REVEL 0.28, MetaLR 0.14, Uncertain significance, CHARGE syndrome
- D70H (p.Asp70His), rs759847780, ClinGen CA4759274, ClinVar RCV001162204, ClinVar RCV002557384, REVEL 0.21, MetaLR 0.24, Likely benign, Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome
- D70N (p.Asp70Asn), gnomAD 8-60741640-G-A, REVEL 0.06, MetaLR 0.12
- H71N (p.His71Asn), gnomAD 8-60741643-C-A, REVEL 0.11, MetaLR 0.07
- H71H (p.His71His), gnomAD 8-60741645-C-T, CADD 8.40
- Y72C (p.Tyr72Cys), rs767819417, ClinGen CA4759275, NCI-TCGA Cosmic COSV7111, cosmic curated COSV71111, REVEL 0.19, MetaLR 0.16, Conflicting interpretations, CHARGE syndrome; not provided
- Y72Y (p.Tyr72Tyr), rs16926453, gnomAD 8-60741648-T-C, CADD 9.09
- N73Y (p.Asn73Tyr), gnomAD 8-60741649-A-T, REVEL 0.11, MetaLR 0.12
- N73K (p.Asn73Lys), gnomAD 8-60741651-T-G, REVEL 0.03, MetaLR 0.08
- Q74R (p.Gln74Arg), ExAC rs761139919, gnomAD rs761139919, REVEL 0.13, MetaLR 0.23
- Q74Q (p.Gln74Gln), gnomAD 8-60741654-G-A, CADD 7.78
- Y75H (p.Tyr75His), NCI-TCGA Cosmic COSV7111, cosmic curated COSV71110, MetaLR 0.23, MetaSVM -0.63, Variant assessed as somatic; moderate impact.
- E76A (p.Glu76Ala), Ensembl rs868628978, REVEL 0.19, MetaLR 0.22
- Q78* (p.Gln78Ter), rs2150577671, ClinGen CA371296616, ClinVar RCV002269145, Ensembl rs2150577671, Pathogenic
- Q78Q (p.Gln78Gln), rs763656339, gnomAD 8-60741666-A-G, CADD 1.67
- K79E (p.Lys79Glu), rs2150577685, ClinGen CA371296646, ClinVar RCV001943426, Ensembl rs2150577685, REVEL 0.15, MetaLR 0.11, Uncertain significance, CHARGE syndrome
- K79R (p.Lys79Arg), rs1064796792, ClinGen CA16618650, ClinVar RCV000478136, Ensembl rs1064796792, Uncertain significance, not provided
- M80I (p.Met80Ile), rs199675125, ClinGen CA241702, ClinVar RCV000175885, ClinVar RCV001360389, REVEL 0.08, MetaLR 0.15, Conflicting interpretations, Inborn genetic diseases; not provided; CHARGE syndrome
- M80L (p.Met80Leu), rs753270420, ClinGen CA4759278, ClinVar RCV002732604, ClinVar RCV005045402, REVEL 0.09, MetaLR 0.07, Conflicting interpretations, Inborn genetic diseases; CHARGE syndrome; Hypogonadotropic hypogonadism 5 with o
- M80R (p.Met80Arg), rs2487260304, ClinGen CA371296683, ClinVar RCV003065905, Uncertain significance, CHARGE syndrome
- M80V (p.Met80Val), rs753270420, ClinGen CA371296676, ClinVar RCV002291460, ClinVar RCV006470452, REVEL 0.12, MetaLR 0.17, Uncertain significance, not provided; CHARGE syndrome
- M80T (p.Met80Thr), gnomAD 8-60741671-T-C, REVEL 0.15, MetaLR 0.19
- H81R (p.His81Arg), ExAC rs764798609, TOPMed rs764798609, gnomAD rs764798609, REVEL 0.46, MetaLR 0.32, Uncertain significance, CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- H81Y (p.His81Tyr), gnomAD 8-60741673-C-T, REVEL 0.44, MetaLR 0.34
- H81H (p.His81His), gnomAD 8-60741675-T-C, CADD 7.77
- H81Q (p.His81Gln), gnomAD 8-60741675-T-G, REVEL 0.39, MetaLR 0.28
- L82P (p.Leu82Pro), NCI-TCGA Cosmic COSV1014, cosmic curated COSV10141, REVEL 0.22, MetaLR 0.12, Variant assessed as somatic; moderate impact.
- L82V (p.Leu82Val), gnomAD 8-60741676-C-G, REVEL 0.03, MetaLR 0.12
- L82L (p.Leu82Leu), rs1315959572, gnomAD 8-60741676-C-T, CADD 9.30
- M83V (p.Met83Val), rs1809024182, ClinGen CA371296746, ClinVar RCV001329003, Ensembl rs1809024182, Uncertain significance, CHARGE syndrome
- M83del (p.Met83del), gnomAD 8-60741676-CTGA-C, CADD 18.30
- M83L (p.Met83Leu), gnomAD 8-60741679-A-C, REVEL 0.06, MetaLR 0.12
- M83I (p.Met83Ile), gnomAD 8-60741681-G-A, REVEL 0.05, MetaLR 0.11
- D84H (p.Asp84His), gnomAD 8-60741682-G-C, REVEL 0.21, MetaLR 0.22
- Q85H (p.Gln85His), TOPMed rs1809024397, gnomAD rs1809024397, REVEL 0.19, MetaLR 0.26, Uncertain significance, not provided
Public CHD7 analysis runs
- CHD7 analysis run — CHD7 (4,212 variants) — completed 2026-08-20