C2673759[trait identifier] AND "Genetic Testing Center for Deafness, D - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627448	NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)	GJB3 (W3*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 627447	NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)	GJB2 (C202*)	Duplication (nonsense)	not provided +1 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 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Rare genetic deafness +11 more	GPathogenic/Likely pathogenic
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 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +12 more	GPathogenic
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	Knuckle pads, deafness AND leukonychia syndrome +10 more	GPathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 284906	NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	GJB2 (G59fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 94392	NM_004004.6(GJB2):c.35dup (p.Val13fs)	GJB2 (V13fs)	Duplication	Rare genetic deafness +3 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 44767	NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	GJB2 (W3*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic/Likely pathogenic
Select item 17029	NM_004004.6(GJB2):c.-23+1G>A	GJB2	Single nucleotide variant (splice donor variant)	GJB2-related condition +15 more	GPathogenic/Likely pathogenic