"Ambry Genetics"[submitter] AND "GNE"[gene] - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2311682	NM_005476.7(GNE):c.2101T>G (p.Leu701Val)	GNE (L591V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281777	NM_005476.7(GNE):c.2066C>T (p.Ser689Phe)	GNE (S579F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100614	NM_005476.7(GNE):c.1948G>C (p.Gly650Arg)	GNE (G540R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 499322	NM_005476.7(GNE):c.1907C>T (p.Ala636Val)	GNE (A636V +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +3 more	GConflicting classifications of pathogenicity
Select item 2553495	NM_005476.7(GNE):c.1661A>G (p.His554Arg)	GNE (H495R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2171412	NM_005476.7(GNE):c.1660C>T (p.His554Tyr)	GNE (H480Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2231111	NM_005476.7(GNE):c.1412-3C>T	GNE	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3281778	NM_005476.7(GNE):c.1409T>G (p.Val470Gly)	GNE (V501G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 460451	NM_005476.7(GNE):c.1281G>A (p.Lys427=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +4 more	GUncertain significance
Select item 284972	NM_005476.7(GNE):c.1276A>C (p.Met426Leu)	GNE (M457L +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +3 more	GUncertain significance
Select item 3100613	NM_005476.7(GNE):c.1157A>T (p.Lys386Ile)	GNE (K276I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 283278	NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	GNE (D378Y +4 more)	Single nucleotide variant (missense variant)	Sialuria +3 more	GConflicting classifications of pathogenicity
Select item 2606147	NM_005476.7(GNE):c.986A>G (p.Glu329Gly)	GNE (E278G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 6021	NM_005476.7(GNE):c.796C>T (p.Arg266Trp)	GNE (R266W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2577719	NM_005476.7(GNE):c.724T>A (p.Ser242Thr)	GNE (S183T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1389485	NM_005476.7(GNE):c.604C>T (p.Arg202Cys)	GNE (R233C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3100615	NM_005476.7(GNE):c.574G>A (p.Ala192Thr)	GNE (A223T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance