C2673759[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +12 more	GPathogenic/Likely pathogenic
Select item 447447	NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)	GJB2 (I196T)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 1334161	NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	GJB2 (M195I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 438618	NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)	GJB2 (D159N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	GJB2-related condition +12 more	GPathogenic
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +11 more	GConflicting classifications of pathogenicity
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Hearing impairment +11 more	GPathogenic
Select item 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Nonsyndromic genetic hearing loss +5 more	GPathogenic/Likely pathogenic
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	not provided +10 more	GPathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +14 more	GConflicting classifications of pathogenicity
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)	Autosomal recessive nonsyndromic hearing loss 1B +13 more	GPathogenic
Select item 177751	NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	GJB2 (V63A)	Single nucleotide variant (missense variant)	Knuckle pads, deafness AND leukonychia syndrome +9 more	GConflicting classifications of pathogenicity
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)	X-linked mixed hearing loss with perilymphatic gusher +11 more	GPathogenic
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 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 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 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 1A +15 more	GPathogenic/Likely pathogenic

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Items: 22