"Ambry Genetics"[submitter] AND "HSD17B12"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2367111	NM_016142.3(HSD17B12):c.140C>T (p.Pro47Leu)	HSD17B12 (P47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317634	NM_016142.3(HSD17B12):c.205G>A (p.Glu69Lys)	HSD17B12 (E69K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551743	NM_016142.3(HSD17B12):c.282A>G (p.Ile94Met)	HSD17B12 (I94M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354122	NM_016142.3(HSD17B12):c.327T>G (p.Phe109Leu)	HSD17B12 (F109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239089	NM_016142.3(HSD17B12):c.328G>T (p.Ala110Ser)	HSD17B12 (A110S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464531	NM_016142.3(HSD17B12):c.368C>T (p.Ala123Val)	HSD17B12 (A123V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560289	NM_016142.3(HSD17B12):c.386T>C (p.Ile129Thr)	HSD17B12 (I129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371768	NM_016142.3(HSD17B12):c.641A>T (p.Gln214Leu)	HSD17B12 (Q214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510235	NM_016142.3(HSD17B12):c.673G>A (p.Val225Ile)	HSD17B12 (V225I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2590779	NM_016142.3(HSD17B12):c.761C>T (p.Thr254Met)	HSD17B12 (T254M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286063	NM_016142.3(HSD17B12):c.845T>A (p.Ile282Asn)	HSD17B12 (I282N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance