ClinVar for MedGen (Select 388720) - ClinVar - NCBI

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	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 2574620	NM_004004.6(GJB2):c.206_212dup (p.Ser72fs)	GJB2 (S72fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 2506579	NM_004004.6(GJB2):c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)	GJB2	Duplication (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
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 1709382	NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)	GJB2 (W133*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1385695	NM_024009.3(GJB3):c.667C>A (p.Pro223Thr)	GJB3 (P223T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334162	NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)	GJB2 (E42D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1334161	NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	GJB2 (M195I)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 1319975	NM_004004.6(GJB2):c.247_249del (p.Phe83del)	GJB2 (F83del)	Deletion (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
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 1297076	NM_004004.6(GJB2):c.232G>A (p.Ala78Thr)	GJB2 (A78T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1297075	NM_004004.6(GJB2):c.157T>A (p.Cys53Ser)	GJB2 (C53S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 1210417	NM_004004.6(GJB2):c.349G>T (p.Asp117Tyr)	GJB2 (D117Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 1208558	NM_004004.6(GJB2):c.490C>G (p.Gln164Glu)	GJB2 (Q164E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202621	NM_004004.6(GJB2):c.79_82delinsAGA (p.Val27fs)	GJB2 (V27fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
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 1185661	NM_004004.6(GJB2):c.446C>A (p.Ala149Asp)	GJB2 (A149D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 1185052	NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)	GJB2 (T137P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 1085833	NM_004004.6(GJB2):c.474C>T (p.Tyr158=)	GJB2	Single nucleotide variant (synonymous variant)	Knuckle pads, deafness AND leukonychia syndrome +8 more	GLikely benign
Select item 1078095	NM_004004.6(GJB2):c.195C>T (p.Tyr65=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 1072828	NC_000013.10:g.(?_20797176)_21105944del	GJB6	Deletion	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GPathogenic
Select item 1064972	NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)	GJB2 (G109E)	Single nucleotide variant (missense variant)	Hearing impairment +10 more	GUncertain significance
Select item 1064641	NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)	GJB2 (C169R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 994863	NM_004004.6(GJB2):c.-16C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 989605	NM_004004.6(GJB2):c.-263C>G	GJB2	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 989604	NM_004004.6(GJB2):c.322A>G (p.Lys108Glu)	GJB2 (K108E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 989603	NM_004004.6(GJB2):c.*4A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A	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 935860	NM_004004.6(GJB2):c.40A>G (p.Asn14Asp)	GJB2 (N14D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GPathogenic/Likely pathogenic
Select item 928520	NM_004004.6(GJB2):c.-22-7T>C	GJB2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 917888	NM_004004.6(GJB2):c.137_141del (p.Asp46fs)	GJB2 (D46fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 883513	NM_004004.6(GJB2):c.-1G>A	GJB2	Single nucleotide variant (5 prime UTR variant)	Knuckle pads, deafness AND leukonychia syndrome +7 more	GUncertain significance
Select item 883325	NM_004004.6(GJB2):c.*550A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882688	NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)	GJB2 (A96G)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882641	NM_004004.6(GJB2):c.546G>A (p.Val182=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GLikely benign
Select item 882640	NM_004004.6(GJB2):c.557C>T (p.Thr186Met)	GJB2 (T186M)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882590	NM_004004.6(GJB2):c.*115A>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Knuckle pads, deafness AND leukonychia syndrome +7 more	GUncertain significance
Select item 882589	NM_004004.6(GJB2):c.*236A>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882542	NM_004004.6(GJB2):c.*679T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882374	NM_004004.6(GJB2):c.*52C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882321	NM_004004.6(GJB2):c.*308G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882320	NM_004004.6(GJB2):c.*385G>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
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 881615	NM_004004.6(GJB2):c.-170C>G	GJB2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
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 881104	NM_004004.6(GJB2):c.174A>G (p.Pro58=)	GJB2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GConflicting classifications of pathogenicity
Select item 881103	NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)	GJB2 (D66N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GConflicting classifications of pathogenicity
Select item 880907	NM_004004.6(GJB2):c.*1040A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 3A +2 more	GUncertain significance
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 806107	NM_024009.3(GJB3):c.342del (p.Lys115fs)	GJB3 (K115fs)	Deletion (frameshift variant)	not provided +3 more	GUncertain significance
Select item 804719	NM_004004.6(GJB2):c.100A>T (p.Met34Leu)	GJB2 (M34L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 799060	NM_004004.6(GJB2):c.456C>T (p.Tyr152=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796115	NM_004004.6(GJB2):c.108C>T (p.Leu36=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795789	NM_004004.6(GJB2):c.675A>T (p.Pro225=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786722	NM_024009.3(GJB3):c.250G>A (p.Val84Ile)	GJB3 (V84I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign/Likely benign
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 739837	NM_004004.6(GJB2):c.177C>T (p.Gly59=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	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 694016	NM_024009.3(GJB3):c.586G>A (p.Ala196Thr)	GJB3 (A196T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GUncertain significance
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 644162	NM_004004.6(GJB2):c.576del (p.Val193fs)	GJB2 (V193fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss +9 more	GPathogenic/Likely pathogenic
Select item 634811	NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)	GJB2 (C53F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic

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