C2675750[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44715	NM_004004.6(GJB2):c.*1C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 44765	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	GJB2 (K224Q)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 44764	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	GJB2 (K221N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GUncertain significance
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	not provided +5 more	GPathogenic/Likely pathogenic
Select item 449487	NM_004004.6(GJB2):c.645del (p.Arg216fs)	GJB2 (R216fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 225222	NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	GJB2 (G200R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +2 more	GPathogenic/Likely pathogenic
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic/Likely pathogenic
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 371768	NM_004004.6(GJB2):c.575_576del (p.Thr192fs)	GJB2 (T192fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GPathogenic/Likely pathogenic
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 371691	NM_004004.6(GJB2):c.564_565del (p.Lys188fs)	GJB2 (K188fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GPathogenic/Likely pathogenic
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GConflicting classifications of pathogenicity
Select item 371755	NM_004004.6(GJB2):c.514del (p.Trp172fs)	GJB2 (W172fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Ear malformation +10 more	GPathogenic/Likely pathogenic
Select item 177736	NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	GJB2 (R165W)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 17024	NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	GJB2 (D159V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GUncertain significance
Select item 371709	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	GJB2 (E147K)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 17017	NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	GJB2 (R143Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 228264	NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)	GJB2 (G130A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	not specified +6 more	GPathogenic/Likely pathogenic
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A +10 more	GPathogenic/Likely pathogenic
Select item 188821	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2 (Y97*)	Duplication (nonsense)	Inborn genetic diseases +9 more	GPathogenic
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Rare genetic deafness +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 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Ichthyosis, hystrix-like, with hearing loss +11 more	GPathogenic
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 17036	NM_004004.6(GJB2):c.250G>A (p.Val84Met)	GJB2 (V84M)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +12 more	GPathogenic
Select item 311372	NM_004004.6(GJB2):c.241C>G (p.Leu81Val)	GJB2 (L81V)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 371685	NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)	GJB2 (Q80*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GPathogenic/Likely pathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	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 447443	NM_004004.6(GJB2):c.187G>T (p.Val63Leu)	GJB2 (V63L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44725	NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	GJB2 (Q57*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GPathogenic
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 371728	NM_004004.6(GJB2):c.134del (p.Gly45fs)	GJB2 (G45fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +1 more	GLikely 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 499513	NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	GJB2 (R32L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +9 more	GPathogenic/Likely pathogenic
Select item 44766	NM_004004.6(GJB2):c.95G>A (p.Arg32His)	GJB2 (R32H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GPathogenic
Select item 550195	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	GJB2 (R32S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +8 more	GPathogenic/Likely pathogenic
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 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 44738	NM_004004.6(GJB2):c.31_68del (p.Gly11fs)	GJB2 (G11fs)	Deletion	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 438615	NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	GJB2 (I20M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GConflicting classifications of pathogenicity
Select item 371766	NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	GJB2 (I20T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +3 more	GPathogenic/Likely pathogenic
Select item 44752	NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	GJB2 (K15T)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GPathogenic/Likely pathogenic
Select item 21387	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2 (G12V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +11 more	GPathogenic/Likely pathogenic
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
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 44767	NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	GJB2 (W3*)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 371781	NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	GJB2 (M1T)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
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 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

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Items: 56