"Ambry Genetics"[submitter] AND "ITM2C"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2330387	NM_030926.6(ITM2C):c.28G>T (p.Val10Leu)	ITM2C (V10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354251	NM_030926.6(ITM2C):c.83C>T (p.Pro28Leu)	ITM2C (P28L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539715	NM_030926.6(ITM2C):c.152G>C (p.Arg51Thr)	ITM2C (R51T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2467656	NM_030926.6(ITM2C):c.169G>A (p.Gly57Ser)	ITM2C (G57S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2377477	NM_030926.6(ITM2C):c.208A>G (p.Met70Val)	ITM2C (M70V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216988	NM_030926.6(ITM2C):c.269G>A (p.Arg90Gln)	ITM2C (R28Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515362	NM_030926.6(ITM2C):c.475T>A (p.Ser159Thr)	ITM2C (S97T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532315	NM_030926.6(ITM2C):c.491A>G (p.Tyr164Cys)	ITM2C (Y102C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487652	NM_030926.6(ITM2C):c.556G>A (p.Val186Met)	ITM2C (V124M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621715	NM_030926.6(ITM2C):c.562A>T (p.Arg188Trp)	ITM2C (R126W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392103	NM_030926.6(ITM2C):c.692G>A (p.Arg231Gln)	ITM2C (R169Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204850	NM_030926.6(ITM2C):c.695G>A (p.Arg232His)	ITM2C (R170H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341724	NM_030926.6(ITM2C):c.706C>T (p.Arg236Trp)	ITM2C (R174W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance