ClinVar for MedGen (Select 336750) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256914	NM_000307.5(POU3F4):c.101_104dup (p.Gln35fs)	POU3F4 (Q35fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 3250397	NM_000307.5(POU3F4):c.191G>A (p.Gly64Glu)	POU3F4 (G64E)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 2692317	NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)	POU3F4 (I285T)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 2627954	NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)	POU3F4 (R282Q)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 2582793	NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)	POU3F4 (R329*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2582792	NM_000307.5(POU3F4):c.80dup (p.Ser29fs)	POU3F4 (S29fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2572180	NM_000307.5(POU3F4):c.119dup (p.Ser40fs)	POU3F4 (S40fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 2505308	NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)	POU3F4 (L256P)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 2505307	NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)	POU3F4 (I308N)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 2505306	NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)	POU3F4 (R204fs)	Microsatellite (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 2445677	NM_000307.5(POU3F4):c.300dup (p.Val101fs)	POU3F4 (V101fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1799532	NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)	POU3F4 (Q306*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1799531	NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)	POU3F4 (N328S)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
Select item 1701827	NM_000307.5(POU3F4):c.220del (p.Ser74fs)	POU3F4 (S74fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	Gnot provided
Select item 1701826	NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)	POU3F4 (C327*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	Gnot provided
Select item 1699084	NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)	POU3F4 (A305V)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 1687028	NM_000307.5(POU3F4):c.340dup (p.Trp114fs)	POU3F4 (W114fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1333162	NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)	POU3F4	Variation (no sequence alteration)	X-linked mixed hearing loss with perilymphatic gusher	GBenign
Select item 1303411	NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)	GJB6 (G21R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GUncertain significance
Select item 1299608	NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg)	POU3F4 (G148R)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 1297060	NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly)	POU3F4 (R329G)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely pathogenic
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 1185660	NM_000307.5(POU3F4):c.609_610del (p.Arg204fs)	POU3F4 (R204fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1185618	NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter)	POU3F4 (Y223*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1185600	NM_000307.5(POU3F4):c.65_66del (p.Ser22fs)	POU3F4 (S22fs)	Microsatellite (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 1085833	NM_004004.6(GJB2):c.474C>T (p.Tyr158=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +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 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 914803	NM_000307.5(POU3F4):c.*297T>C	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 914300	NM_000307.5(POU3F4):c.*22C>G	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher +1 more	GBenign/Likely benign
Select item 913163	NM_000307.5(POU3F4):c.585A>G (p.Glu195=)	POU3F4	Single nucleotide variant (synonymous variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 913162	NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)	POU3F4 (S177L)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 913161	NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)	POU3F4 (L131F)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
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 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 881195	NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GBenign/Likely benign
Select item 811912	NM_000307.5(POU3F4):c.24C>T (p.Pro8=)	POU3F4	Single nucleotide variant (synonymous variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely benign
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 627470	NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter)	POU3F4 (W57*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 599350	NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter)	POU3F4 (W325*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 585738	NM_004004.6(GJB2):c.14C>T (p.Thr5Met)	GJB2 (T5M)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 560726	NM_000307.5(POU3F4):c.249dup (p.Gly84fs)	POU3F4 (G84fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 556318	NM_004004.6(GJB2):c.88A>G (p.Ile30Val)	GJB2 (I30V)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 550195	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	GJB2 (R32S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 499513	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	GJB2 (R32L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GPathogenic/Likely pathogenic
Select item 447450	NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	GJB2 (V226G)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 447447	NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)	GJB2 (I196T)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 447446	NM_004004.6(GJB2):c.512C>T (p.Ala171Val)	GJB2 (A171V)	Single nucleotide variant (missense variant)	not specified +8 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 417622	NM_000307.5(POU3F4):c.877C>G (p.Leu293Val)	POU3F4 (L293V)	Single nucleotide variant (missense variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 402272	NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)	POU3F4 (R282L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375406	NM_004004.6(GJB2):c.-22-2A>C	GJB2	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 368736	NM_000307.5(POU3F4):c.*192T>C	POU3F4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 368735	NM_000307.5(POU3F4):c.*141T>C	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 368734	NM_000307.5(POU3F4):c.*105C>T	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GLikely benign
Select item 368733	NM_000307.5(POU3F4):c.*41C>A	POU3F4	Single nucleotide variant (3 prime UTR variant)	X-linked mixed hearing loss with perilymphatic gusher	GUncertain significance
Select item 368732	NM_000307.5(POU3F4):c.753G>A (p.Leu251=)	POU3F4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 265481	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	GJB2 (C169Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +9 more	GConflicting classifications of pathogenicity
Select item 236062	NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter)	POU3F4 (Q79*)	Single nucleotide variant (nonsense)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 236061	NM_004004.6(GJB2):c.400T>C (p.Trp134Arg)	GJB2 (W134R)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +8 more	GUncertain significance
Select item 228391	NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)	POU3F4 (Q203fs)	Microsatellite (frameshift variant)	Rare genetic deafness +1 more	GPathogenic
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 225375	NM_004004.6(GJB2):c.583A>G (p.Met195Val)	GJB2 (M195V)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	GJB2-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic
Select item 188821	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2 (Y97*)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic
Select item 179963	NM_000307.5(POU3F4):c.968G>A (p.Arg323His)	POU3F4 (R323H)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 178629	NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser)	POU3F4 (P47S)	Single nucleotide variant (missense variant)	POU3F4-related disorder +3 more	GBenign/Likely benign
Select item 177819	NM_004004.5(GJB2):c.[79G>A;341A>G]	GJB2 (V27I +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign/Likely benign
Select item 177751	NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	GJB2 (V63A)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Rare genetic deafness +11 more	GPathogenic
Select item 163525	NM_004004.6(GJB2):c.-216T>G	GJB2	Single nucleotide variant	Ichthyosis, hystrix-like, with hearing loss +9 more	GBenign/Likely benign
Select item 163514	NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	GJB2 (R127C)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 156303	NM_000307.5(POU3F4):c.896del (p.Lys299fs)	POU3F4 (K299fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 44767	NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	GJB2 (W3*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GPathogenic/Likely pathogenic
Select item 44765	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	GJB2 (K224Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GUncertain significance
Select item 44764	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	GJB2 (K221N)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +12 more	GPathogenic/Likely pathogenic
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GBenign
Select item 44760	NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	GJB2 (F191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance FDA Recognized database
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GBenign/Likely benign
Select item 44752	NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	GJB2 (K15T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +11 more	GPathogenic/Likely pathogenic
Select item 44743	NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	GJB2 (T123N)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
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 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GBenign/Likely benign
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 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GPathogenic/Likely pathogenic
Select item 44733	NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	GJB2 (M93I)	Single nucleotide variant (missense variant)	Rare genetic deafness +9 more	GPathogenic/Likely pathogenic
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	not provided +11 more	GBenign/Likely benign
Select item 44729	NM_004004.6(GJB2):c.1A>G (p.Met1Val)	GJB2 (M1V)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 44725	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2 (Q57*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GPathogenic
Select item 43352	NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)	POU3F4 (I285fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 43351	NM_000307.5(POU3F4):c.708= (p.Glu236=)	POU3F4	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign
Select item 43350	NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr)	POU3F4 (I232T)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 43349	NM_000307.5(POU3F4):c.710= (p.Ala237=)	POU3F4	Single nucleotide variant (no sequence alteration)	not specified +2 more	GBenign
Select item 41458	NM_000307.5(POU3F4):c.1060del (p.Thr354fs)	POU3F4 (T354fs)	Deletion (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 41457	NM_000307.5(POU3F4):c.950dup (p.Leu317fs)	POU3F4 (L317fs)	Duplication (frameshift variant)	X-linked mixed hearing loss with perilymphatic gusher	GPathogenic
Select item 36278	NM_004004.6(GJB2):c.*111C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +8 more	GBenign

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