"Eurofins Ntd Llc (ga)"[submitter] AND "GJB6"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285797	NM_001110219.3(GJB6):c.695C>A (p.Pro232His)	GJB6 (P232H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 95435	NM_001110219.3(GJB6):c.689dup (p.Asn230fs)	GJB6 (N230fs)	Duplication (frameshift variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 285401	NM_001110219.3(GJB6):c.672A>G (p.Arg224=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 45504	NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)	GJB6 (S199T)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GBenign/Likely benign
Select item 45503	NM_001110219.3(GJB6):c.489G>A (p.Leu163=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 45502	NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)	GJB6 (N159S)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GBenign/Likely benign
Select item 598442	NM_001110219.3(GJB6):c.354A>C (p.Ile118=)	GJB6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 188490	NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)	GJB6 (N113K)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 95434	NM_001110219.3(GJB6):c.261dup (p.Ala88fs)	GJB6 (A88fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 196442	NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 498602	NM_001110219.3(GJB6):c.111G>A (p.Val37=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GConflicting classifications of pathogenicity
Select item 95433	NM_001110219.3(GJB6):c.15G>T (p.Thr5=)	GJB6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 45501	NM_001110219.3(GJB6):c.15G>A (p.Thr5=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GConflicting classifications of pathogenicity