ClinVar for MedGen (Select 436381) - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338645	NM_004004.6(GJB2):c.[101T>C;550C>T]	GJB2 (M34T +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GPathogenic
Select item 2952945	NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)	GJB6 (R127Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2952077	NM_001110219.3(GJB6):c.357G>A (p.Glu119=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GLikely benign
Select item 2943110	NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)	GJB6 (N113S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2939794	NM_001110219.3(GJB6):c.306C>G (p.Thr102=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GLikely benign
Select item 2937586	NM_001110219.3(GJB6):c.138C>T (p.Asp46=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GLikely benign
Select item 2935655	NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)	GJB6 (R104C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2934708	NM_001110219.3(GJB6):c.129G>A (p.Val43=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GLikely benign
Select item 2933778	NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)	GJB6 (R143*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2930663	NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)	GJB6 (N206T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2927270	NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)	GJB6 (S197Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2927205	NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)	GJB6 (F154I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2926737	NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)	GJB6 (V52F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2924572	NM_001110219.3(GJB6):c.153C>T (p.Phe51=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +3 more	GLikely benign
Select item 2500795	NC_000013.11:g.20222821_20531941del	CRYL1, GJB6 +14 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B	GPathogenic
Select item 2425644	NC_000013.10:g.(?_20796834)_(21099933_?)del	CRYL1, GJB6	Deletion	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2424812	NC_000013.10:g.(?_20763040)_(20797619_?)dup	GJB2, GJB6	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2336365	NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu)	GJB6 (G109E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +4 more	GUncertain significance
Select item 2171793	NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)	GJB6 (R107K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2067721	NM_001110219.3(GJB6):c.16C>T (p.Leu6=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GLikely benign
Select item 2009958	NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)	GJB6 (M203L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 1967071	NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)	GJB6 (R32*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 1721249	NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)	GJB6 (G59V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GUncertain significance
Select item 1699284	NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu)	GJB6 (A198E)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +3 more	GUncertain significance
Select item 1694693	NM_001110219.3(GJB6):c.594G>A (p.Ala198=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1625051	NM_001110219.3(GJB6):c.300C>T (p.His100=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GLikely benign
Select item 1496632	NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg)	GJB6 (S251R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 1482975	NM_001110219.3(GJB6):c.458T>G (p.Val153Gly)	GJB6 (V153G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 1474469	NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)	GJB6 (R75W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GConflicting classifications of pathogenicity
Select item 1447794	NM_001110219.3(GJB6):c.458T>C (p.Val153Ala)	GJB6 (V153A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GUncertain significance
Select item 1447347	NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln)	GJB6 (R32Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 1408221	NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln)	GJB6 (R143Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 1391604	NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg)	GJB6 (Q124R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1308146	NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln)	GJB6 (R108Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +4 more	GUncertain significance
Select item 1303411	NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)	GJB6 (G21R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GUncertain significance
Select item 1190864	NM_001110219.3(GJB6):c.*227dup	GJB6	Duplication (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GBenign/Likely benign
Select item 1072828	NC_000013.10:g.(?_20797176)_21105944del	GJB6	Deletion	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GPathogenic
Select item 1043052	NM_001110219.3(GJB6):c.352A>G (p.Ile118Val)	GJB6 (I118V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 969013	NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu)	GJB6 (P173L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GUncertain significance
Select item 915994	GRCh37/hg19 13q12.11(chr13:20803674-21030220)	CRYL1, GJB6	Copy number loss	Autosomal recessive nonsyndromic hearing loss 1B	GPathogenic
Select item 881663	NM_001110219.3(GJB6):c.109G>A (p.Val37Met)	GJB6 (V37M)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +3 more	GUncertain significance
Select item 881662	NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)	GJB6 (V71A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 881195	NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GBenign/Likely benign
Select item 881194	NM_001110219.3(GJB6):c.480G>A (p.Gly160=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GBenign/Likely benign
Select item 837505	NM_001110219.3(GJB6):c.228del (p.Trp77fs)	GJB6 (W77fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GUncertain significance
Select item 775011	NM_001110219.3(GJB6):c.723G>A (p.Gln241=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GLikely benign
Select item 729640	NM_001110219.3(GJB6):c.226C>T (p.Leu76=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GLikely benign
Select item 724026	NM_001110219.3(GJB6):c.30C>T (p.Ile10=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GConflicting classifications of pathogenicity
Select item 712775	NM_001110219.3(GJB6):c.6T>C (p.Asp2=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GLikely benign
Select item 672304	NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn)	GJB6 (D120N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GBenign/Likely benign
Select item 663718	NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)	GJB6 (E101Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 656832	NC_000013.10:g.(?_20716100)_(21398980_?)dup	LOC130009329, LOC132090175 +32 more	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 536989	NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly)	GJB6 (C211G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GUncertain significance
Select item 498602	NM_001110219.3(GJB6):c.111G>A (p.Val37=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GConflicting classifications of pathogenicity
Select item 450929	NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly)	GJB6 (S261G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 426683	NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)	GJB6 (C60F)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 424855	NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)	GJB6 (A40V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GUncertain significance
Select item 311383	NM_001110219.3(GJB6):c.60C>T (p.Ile20=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GConflicting classifications of pathogenicity
Select item 311382	NM_001110219.3(GJB6):c.63del (p.Lys22fs)	GJB6 (K22fs)	Deletion (frameshift variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 311381	NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 311379	NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)	GJB6 (T227M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GUncertain significance
Select item 285797	NM_001110219.3(GJB6):c.695C>A (p.Pro232His)	GJB6 (P232H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 285401	NM_001110219.3(GJB6):c.672A>G (p.Arg224=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 225377	NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)	GJB6 (E101K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GConflicting classifications of pathogenicity
Select item 196442	NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 188490	NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)	GJB6 (N113K)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 95435	NM_001110219.3(GJB6):c.689dup (p.Asn230fs)	GJB6 (N230fs)	Duplication (frameshift variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 45507	NM_001110219.3(GJB6):c.619G>A (p.Val207Met)	GJB6 (V207M)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GUncertain significance
Select item 45505	NM_001110219.3(GJB6):c.607A>G (p.Met203Val)	GJB6 (M203V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 45504	NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)	GJB6 (S199T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 45503	NM_001110219.3(GJB6):c.489G>A (p.Leu163=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 45502	NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)	GJB6 (N159S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GBenign/Likely benign
Select item 45501	NM_001110219.3(GJB6):c.15G>A (p.Thr5=)	GJB6	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +12 more	GPathogenic/Likely pathogenic
Select item 44751	NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)	GJB2 (A149T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +11 more	GPathogenic/Likely pathogenic
Select item 44740	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	GJB2 (G12C)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GPathogenic/Likely pathogenic
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	Rare genetic deafness +10 more	GPathogenic
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 104 +14 more	GPathogenic/Likely pathogenic
Select item 17023	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	GJB2 (V37I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome +14 more	GPathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17010	NM_004004.6(GJB2):c.167del (p.Leu56fs)	GJB2 (L56fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 17002	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	GJB2 (W24*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17001	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 5546	del(GJB6-D13S1830)	CRYL1, GJB2 +15 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +2 more	GPathogenic
Select item 5545	NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	GJB6 (A88V)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GPathogenic
Select item 5544	NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	GJB6 (G11R)	Single nucleotide variant (missense variant)	GJB6-related disorder +6 more	GPathogenic

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Items: 92