"Ambry Genetics"[submitter] AND "GALNTL5"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2300756	NM_145292.4(GALNTL5):c.11C>T (p.Ala4Val)	GALNTL5 (A4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2598913	NM_145292.4(GALNTL5):c.37T>A (p.Ser13Thr)	GALNTL5 (S13T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615131	NM_145292.4(GALNTL5):c.95T>A (p.Val32Glu)	GALNTL5 (V32E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242059	NM_145292.4(GALNTL5):c.121G>A (p.Glu41Lys)	GALNTL5 (E41K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374941	NM_145292.4(GALNTL5):c.155T>A (p.Val52Glu)	GALNTL5 (V52E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473761	NM_145292.4(GALNTL5):c.166A>G (p.Ile56Val)	GALNTL5 (I56V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261980	NM_145292.4(GALNTL5):c.295A>C (p.Lys99Gln)	GALNTL5 (K99Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349704	NM_145292.4(GALNTL5):c.500A>G (p.Glu167Gly)	GALNTL5 (E167G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345048	NM_145292.4(GALNTL5):c.538G>A (p.Asp180Asn)	GALNTL5 (D180N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251987	NM_145292.4(GALNTL5):c.539A>G (p.Asp180Gly)	GALNTL5 (D180G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394230	NM_145292.4(GALNTL5):c.661G>C (p.Asp221His)	GALNTL5 (D221H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376943	NM_145292.4(GALNTL5):c.689G>T (p.Cys230Phe)	GALNTL5 (C230F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393758	NM_145292.4(GALNTL5):c.706T>C (p.Trp236Arg)	GALNTL5 (W236R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353987	NM_145292.4(GALNTL5):c.757T>C (p.Cys253Arg)	GALNTL5 (C253R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370963	NM_145292.4(GALNTL5):c.773T>C (p.Val258Ala)	GALNTL5 (V258A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469188	NM_145292.4(GALNTL5):c.814G>A (p.Val272Ile)	GALNTL5 (V272I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253889	NM_145292.4(GALNTL5):c.914C>T (p.Pro305Leu)	GALNTL5 (P305L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398388	NM_145292.4(GALNTL5):c.944G>A (p.Arg315His)	GALNTL5 (R315H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588363	NM_145292.4(GALNTL5):c.1193G>A (p.Arg398Gln)	GALNTL5 (R398Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593101	NM_145292.4(GALNTL5):c.1237C>A (p.Arg413Ser)	GALNTL5 (R413S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377874	NM_145292.4(GALNTL5):c.1238G>A (p.Arg413His)	GALNTL5 (R413H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332769	NM_145292.4(GALNTL5):c.1295T>A (p.Val432Asp)	GALNTL5 (V432D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22