"Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1799567	NM_004004.6(GJB2):c.449del (p.Phe150fs)	GJB2 (F150fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GPathogenic
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 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 158607	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2 (H100Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Rare genetic deafness +11 more	GPathogenic
Select item 437829	NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)	GJB2 (L89F)	Single nucleotide variant (missense variant)	Nonsyndromic Deafness +1 more	GConflicting classifications of pathogenicity
Select item 631697	NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)	GJB2 (T86R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +3 more	GPathogenic/Likely pathogenic
Select item 17027	NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	GJB2 (R75Q)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic
Select item 17020	NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	GJB2 (D50N)	Single nucleotide variant (missense variant)	Mutilating keratoderma +3 more	GPathogenic
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)	GJB2-related disorder +4 more	GPathogenic
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 2070085	NM_004004.6(GJB2):c.3G>A (p.Met1Ile)	GJB2 (M1I)	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