"Illumina Laboratory Services, Illumina"[submitter] AND "GJB1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368623	NM_000166.6(GJB1):c.-128G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 913594	NM_000166.6(GJB1):c.-102G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 246014	NM_000166.6(GJB1):c.-17G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 368624	NM_000166.6(GJB1):c.-6G>A	GJB1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +2 more	GBenign/Likely benign
Select item 220932	NM_000166.6(GJB1):c.235C>T (p.Leu79=)	GJB1	Single nucleotide variant (synonymous variant)	GJB1-related condition +5 more	GBenign/Likely benign
Select item 1328126	NM_000166.6(GJB1):c.268C>T (p.Leu90Phe)	GJB1 (L90F)	Single nucleotide variant (missense variant)	GJB1-related disorders +3 more	GConflicting classifications of pathogenicity
Select item 195025	NM_000166.6(GJB1):c.271G>A (p.Val91Met)	GJB1 (V91M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +2 more	GPathogenic/Likely pathogenic
Select item 368625	NM_000166.6(GJB1):c.463C>A (p.Leu155Met)	GJB1 (L155M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 368626	NM_000166.6(GJB1):c.507C>T (p.Asp169=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GBenign/Likely benign
Select item 10450	NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)	GJB1 (F235C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +4 more	GConflicting classifications of pathogenicity
Select item 913989	NM_000166.6(GJB1):c.*22C>T	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 368627	NM_000166.6(GJB1):c.*34C>A	GJB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 913990	NM_000166.6(GJB1):c.*50G>C	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 368628	NM_000166.6(GJB1):c.*117C>T	GJB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 368629	NM_000166.6(GJB1):c.*163G>T	GJB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 915218	NM_000166.6(GJB1):c.*277A>G	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 915219	NM_000166.6(GJB1):c.*309G>A	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GBenign
Select item 915220	NM_000166.6(GJB1):c.*402G>A	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 915221	NM_000166.6(GJB1):c.*443G>A	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic

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Items: 20