2697[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146380	GRCh38/hg38 6q22.31(chr6:120977382-121468709)x3	LOC132089325, GJA1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 904853	NM_000165.5(GJA1):c.-197T>G	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355154	NM_000165.5(GJA1):c.-188G>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355155	NM_000165.5(GJA1):c.-161G>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355156	NM_000165.5(GJA1):c.-135C>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 906469	NM_000165.5(GJA1):c.-87C>T	GJA1	Single nucleotide variant (5 prime UTR variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 355157	NM_000165.5(GJA1):c.-67C>G	GJA1	Single nucleotide variant (5 prime UTR variant)	Syndactyly type 3 +3 more	GConflicting classifications of pathogenicity
Select item 1232249	NM_000165.5(GJA1):c.-17+50C>T	GJA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288826	NM_000165.5(GJA1):c.-17+93T>G	GJA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200337	NM_000165.5(GJA1):c.-16-12T>C	GJA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 355158	NM_000165.5(GJA1):c.-16-12T>A	GJA1	Single nucleotide variant (intron variant)	Hypoplastic left heart syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1628704	NM_000165.5(GJA1):c.15C>T (p.Ser5=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive +1 more	GLikely benign
Select item 1658324	NM_000165.5(GJA1):c.18C>T (p.Ala6=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 203467	NM_000165.5(GJA1):c.23G>T (p.Gly8Val)	GJA1 (G8V)	Single nucleotide variant (missense variant)	Autosomal dominant palmoplantar keratoderma and congenital alopecia	GPathogenic
Select item 29668	NM_000165.5(GJA1):c.31C>T (p.Leu11Phe)	GJA1 (L11F)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 2705428	NM_000165.5(GJA1):c.32T>A (p.Leu11His)	GJA1 (L11H)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 16993	NM_000165.5(GJA1):c.32T>C (p.Leu11Pro)	GJA1 (L11P)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 2428806	NM_000165.5(GJA1):c.37A>G (p.Lys13Glu)	GJA1 (K13E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16982	NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser)	GJA1 (Y17S)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16983	NM_000165.5(GJA1):c.52T>C (p.Ser18Pro)	GJA1 (S18P)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 941060	NM_000165.5(GJA1):c.53C>A (p.Ser18Ter)	GJA1 (S18*)	Single nucleotide variant (nonsense)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 16984	NM_000165.5(GJA1):c.61G>A (p.Gly21Arg)	GJA1 (G21R)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 844190	NM_000165.5(GJA1):c.64G>A (p.Gly22Arg)	GJA1 (G22R)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 16985	NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)	GJA1 (G22E)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 1654046	NM_000165.5(GJA1):c.66G>A (p.Gly22=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 986183	NM_000165.5(GJA1):c.75G>C (p.Trp25Cys)	GJA1 (W25C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2086151	NM_000165.5(GJA1):c.81A>G (p.Ser27=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 989202	NM_000165.5(GJA1):c.93T>G (p.Ile31Met)	GJA1 (I31M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 16995	NM_000165.5(GJA1):c.97C>T (p.Arg33Ter)	GJA1 (R33*)	Single nucleotide variant (nonsense)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 1580311	NM_000165.5(GJA1):c.99A>G (p.Arg33=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2853092	NM_000165.5(GJA1):c.103C>T (p.Leu35=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2169516	NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)	GJA1 (G38E)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 522099	NM_000165.5(GJA1):c.113G>C (p.Gly38Ala)	GJA1 (G38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 576300	NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del)	GJA1	Deletion (inframe_deletion)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1386214	NM_000165.5(GJA1):c.119_121del (p.Ala40del)	GJA1 (A40del)	Deletion (inframe_deletion)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 435323	NM_000165.5(GJA1):c.119C>T (p.Ala40Val)	GJA1 (A40V)	Single nucleotide variant (missense variant)	Autosomal dominant palmoplantar keratoderma and congenital alopecia +8 more	GPathogenic
Select item 1626419	NM_000165.5(GJA1):c.120G>A (p.Ala40=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2734938	NM_000165.5(GJA1):c.121G>C (p.Val41Leu)	GJA1 (V41L)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely pathogenic
Select item 904141	NM_000165.5(GJA1):c.129A>G (p.Ser43=)	GJA1	Single nucleotide variant (synonymous variant)	Syndactyly type 3 +2 more	GUncertain significance
Select item 203469	NM_000165.5(GJA1):c.131C>T (p.Ala44Val)	GJA1 (A44V)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 3 +1 more	GPathogenic/Likely pathogenic
Select item 470213	NM_000165.5(GJA1):c.140A>T (p.Asp47Val)	GJA1 (D47V)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 1028586	NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)	GJA1 (E48K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1646316	NM_000165.5(GJA1):c.150T>A (p.Ser50=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2114301	NM_000165.5(GJA1):c.152C>G (p.Ala51Gly)	GJA1 (A51G)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 16986	NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)	GJA1	Duplication (inframe_insertion)	Oculodentodigital dysplasia	GPathogenic
Select item 2148493	NM_000165.5(GJA1):c.158G>A (p.Arg53His)	GJA1 (R53H)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1051914	NM_000165.5(GJA1):c.162dup (p.Asn55Ter)	GJA1 (N55*)	Duplication (nonsense)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 596145	NM_000165.5(GJA1):c.164A>G (p.Asn55Ser)	GJA1 (N55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235928	NM_000165.5(GJA1):c.179G>C (p.Gly60Ala)	GJA1 (G60A)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 1981823	NM_000165.5(GJA1):c.180T>C (p.Gly60=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2857408	NM_000165.5(GJA1):c.184G>A (p.Glu62Lys)	GJA1 (E62K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1715214	NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)	GJA1 (N63D)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 985815	NM_000165.5(GJA1):c.187A>C (p.Asn63His)	GJA1 (N63H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1577282	NM_000165.5(GJA1):c.189T>C (p.Asn63=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1478094	NM_000165.5(GJA1):c.189T>G (p.Asn63Lys)	GJA1 (N63K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1142247	NM_000165.5(GJA1):c.192C>T (p.Val64=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1310819	NM_000165.5(GJA1):c.195C>T (p.Cys65=)	GJA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1345508	NM_000165.5(GJA1):c.196T>C (p.Tyr66His)	GJA1 (Y66H)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely pathogenic
Select item 2753583	NM_000165.5(GJA1):c.197A>G (p.Tyr66Cys)	GJA1 (Y66C)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1306738	NM_000165.5(GJA1):c.201C>T (p.Asp67=)	GJA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2955492	NM_000165.5(GJA1):c.219T>C (p.Ser73=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 3347186	NM_000165.5(GJA1):c.221A>C (p.His74Pro)	GJA1 (H74P)	Single nucleotide variant (missense variant)	GJA1-related disorder	GLikely pathogenic
Select item 2734939	NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)	GJA1 (R76C)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely pathogenic
Select item 16997	NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)	GJA1 (R76S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 16996	NM_000165.5(GJA1):c.227G>A (p.Arg76His)	GJA1 (R76H)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 1492359	NM_000165.5(GJA1):c.246C>G (p.Ile82Met)	GJA1 (I82M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely pathogenic
Select item 1693033	NM_000165.5(GJA1):c.252T>A (p.Phe84Leu)	GJA1 (F84L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1476307	NM_000165.5(GJA1):c.256T>A (p.Ser86Thr)	GJA1 (S86T)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1974849	NM_000165.5(GJA1):c.264C>T (p.Pro88=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 355159	NM_000165.5(GJA1):c.270C>G (p.Leu90=)	GJA1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome 1 +2 more	GUncertain significance
Select item 2816251	NM_000165.5(GJA1):c.283C>T (p.His95Tyr)	GJA1 (H95Y)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1712162	NM_000165.5(GJA1):c.284A>G (p.His95Arg)	GJA1 (H95R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16988	NM_000165.5(GJA1):c.286G>A (p.Val96Met)	GJA1 (V96M)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GPathogenic
Select item 2734940	NM_000165.5(GJA1):c.287T>C (p.Val96Ala)	GJA1 (V96A)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 3348598	NM_000165.5(GJA1):c.293A>G (p.Tyr98Cys)	GJA1 (Y98C)	Single nucleotide variant (missense variant)	GJA1-related disorder	GLikely pathogenic
Select item 470214	NM_000165.5(GJA1):c.296T>A (p.Val99Glu)	GJA1 (V99E)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 3251137	NM_000165.5(GJA1):c.301C>A (p.Arg101=)	GJA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143199	NM_000165.5(GJA1):c.302G>A (p.Arg101Gln)	GJA1 (R101Q)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 537755	NM_000165.5(GJA1):c.306G>C (p.Lys102Asn)	GJA1 (K102N)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GPathogenic
Select item 1550849	NM_000165.5(GJA1):c.309A>G (p.Glu103=)	GJA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1303061	NM_000165.5(GJA1):c.317T>C (p.Leu106Pro)	GJA1 (L106P)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive +1 more	GUncertain significance
Select item 1091993	NM_000165.5(GJA1):c.327A>G (p.Lys109=)	GJA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2880971	NM_000165.5(GJA1):c.328G>A (p.Glu110Lys)	GJA1 (E110K)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 2748341	NM_000165.5(GJA1):c.330G>A (p.Glu110=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 1054914	NM_000165.5(GJA1):c.353C>T (p.Thr118Ile)	GJA1 (T118I)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1585666	NM_000165.5(GJA1):c.357T>C (p.Asp119=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 2866250	NM_000165.5(GJA1):c.359G>C (p.Gly120Ala)	GJA1 (G120A)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1980938	NM_000165.5(GJA1):c.361G>A (p.Val121Ile)	GJA1 (V121I)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 651676	NM_000165.5(GJA1):c.365A>G (p.Asn122Ser)	GJA1 (N122S)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia, autosomal recessive	GUncertain significance
Select item 1597103	NM_000165.5(GJA1):c.366T>C (p.Asn122=)	GJA1	Single nucleotide variant (synonymous variant)	Oculodentodigital dysplasia, autosomal recessive	GLikely benign
Select item 3348299	NM_000165.5(GJA1):c.380T>C (p.Leu127Ser)	GJA1 (L127S)	Single nucleotide variant (missense variant)	GJA1-related disorder	GUncertain significance

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