"Ambry Genetics"[submitter] AND "C1GALT1C1L"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2276236	NM_001101330.3(C1GALT1C1L):c.874C>T (p.Arg292Trp)	C1GALT1C1L, PLEKHH2 (R292W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350061	NM_001101330.3(C1GALT1C1L):c.748C>A (p.Gln250Lys)	C1GALT1C1L, PLEKHH2 (Q250K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361675	NM_001101330.3(C1GALT1C1L):c.745G>A (p.Ala249Thr)	C1GALT1C1L, PLEKHH2 (A249T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337632	NM_001101330.3(C1GALT1C1L):c.733A>G (p.Thr245Ala)	PLEKHH2, C1GALT1C1L (T245A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270050	NM_001101330.3(C1GALT1C1L):c.535G>A (p.Val179Met)	PLEKHH2, C1GALT1C1L (V179M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267137	NM_001101330.3(C1GALT1C1L):c.436T>A (p.Phe146Ile)	PLEKHH2, C1GALT1C1L (F146I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297467	NM_001101330.3(C1GALT1C1L):c.371A>C (p.Tyr124Ser)	PLEKHH2, C1GALT1C1L (Y124S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293295	NM_001101330.3(C1GALT1C1L):c.348G>C (p.Arg116Ser)	C1GALT1C1L, PLEKHH2 (R116S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213085	NM_001101330.3(C1GALT1C1L):c.278A>G (p.Lys93Arg)	C1GALT1C1L, PLEKHH2 (K93R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518968	NM_001101330.3(C1GALT1C1L):c.151A>C (p.Asn51His)	C1GALT1C1L, PLEKHH2 (N51H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622245	NM_001101330.3(C1GALT1C1L):c.121G>C (p.Glu41Gln)	C1GALT1C1L, PLEKHH2 (E41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390273	NM_001101330.3(C1GALT1C1L):c.61G>A (p.Val21Ile)	C1GALT1C1L, PLEKHH2 (V21I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394219	NM_001101330.3(C1GALT1C1L):c.30T>G (p.Phe10Leu)	PLEKHH2, C1GALT1C1L (F10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404848	NM_001101330.3(C1GALT1C1L):c.17G>A (p.Gly6Glu)	C1GALT1C1L, PLEKHH2 (G6E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance