"Ambry Genetics"[submitter] AND "HSDL2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107191	NM_032303.5(HSDL2):c.461C>G (p.Pro154Arg)	HSDL2 (P154R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343030	NM_032303.5(HSDL2):c.665A>G (p.Asp222Gly)	HSDL2 (D149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107192	NM_032303.5(HSDL2):c.743T>C (p.Ile248Thr)	HSDL2 (I175T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107193	NM_032303.5(HSDL2):c.775G>A (p.Val259Ile)	HSDL2 (V186I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523404	NM_032303.5(HSDL2):c.812A>C (p.Asp271Ala)	HSDL2 (D198A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457027	NM_032303.5(HSDL2):c.916C>T (p.Arg306Cys)	HSDL2, HSDL2-AS1 (R233C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2357658	NM_032303.5(HSDL2):c.1053C>A (p.Ser351Arg)	HSDL2, HSDL2-AS1 (S278R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295395	NM_032303.5(HSDL2):c.1134A>C (p.Lys378Asn)	HSDL2, HSDL2-AS1 (K305N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376200	NM_032303.5(HSDL2):c.1141T>G (p.Ser381Ala)	HSDL2, HSDL2-AS1 (S308A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance