C2673759[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Mutilating keratoderma +12 more	GPathogenic/Likely pathogenic
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GBenign
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	GJB2-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 447447	NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)	GJB2 (I196T)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +9 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 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 29662	NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	GJB2 (R184Q)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Rare genetic deafness +10 more	GConflicting classifications of pathogenicity
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 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 44757	NM_004004.6(GJB2):c.499G>A (p.Val167Met)	GJB2 (V167M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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)	Nonsyndromic Deafness +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 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Mutilating keratoderma +10 more	GBenign/Likely benign
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Rare genetic deafness +11 more	GPathogenic
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 195204	NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	GJB2 (R127L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44745	NM_004004.6(GJB2):c.380G>A (p.Arg127His)	GJB2 (R127H)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 44744	NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	GJB2 (Q124*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Rare genetic deafness +11 more	GPathogenic
Select item 447444	NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)	GJB2 (E120K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 188488	NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	GJB2 (E119K)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GBenign/Likely benign
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GPathogenic/Likely pathogenic
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)	Mutilating keratoderma +10 more	GPathogenic
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Rare genetic deafness +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)	Rare genetic deafness +12 more	GPathogenic
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +10 more	GBenign/Likely benign
Select item 177735	NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)	GJB2 (Q80P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 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 17001	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 284906	NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	GJB2 (G59fs)	Deletion (frameshift variant)	not specified +2 more	GPathogenic
Select item 177751	NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	GJB2 (V63A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GConflicting classifications of pathogenicity
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)	Mutilating keratoderma +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 17005	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	GJB2 (E47*)	Single nucleotide variant (nonsense)	Rare genetic deafness +11 more	GPathogenic
Select item 188830	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	GJB2 (W44*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 3A +9 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 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 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 188758	NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	GJB2 (R32C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GPathogenic
Select item 36279	NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	GJB2 (V27I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GBenign
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	not provided +3 more	GPathogenic/Likely pathogenic
Select item 17013	NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)	GJB2 (T18fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 94392	NM_004004.6(GJB2):c.35dup (p.Val13fs)	GJB2 (V13fs)	Duplication	Hearing impairment +3 more	GPathogenic/Likely pathogenic
Select item 21387	NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	GJB2 (G12V)	Single nucleotide variant (missense variant)	Rare genetic deafness +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 379889	NM_004004.6(GJB2):c.23C>T (p.Thr8Met)	GJB2 (T8M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
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 44724	NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	GJB2 (G4D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 44721	NM_004004.6(GJB2):c.-6T>A	GJB2	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 94388	NM_004004.6(GJB2):c.-15C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign/Likely benign
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 228700	NM_004004.6(GJB2):c.-22-6T>C	GJB2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Rare genetic deafness +14 more	GPathogenic/Likely pathogenic
Select item 44720	NM_004004.6(GJB2):c.-45C>A	GJB2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 68