"Ambry Genetics"[submitter] AND "HS6ST2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2525580	NM_001394073.1(HS6ST2):c.1844G>A (p.Arg615Gln)	HS6ST2 (R575Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469136	NM_001394073.1(HS6ST2):c.1843C>T (p.Arg615Trp)	HS6ST2 (R575W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252799	NM_001394073.1(HS6ST2):c.1788C>G (p.Asn596Lys)	HS6ST2 (N596K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391170	NM_001394073.1(HS6ST2):c.1692G>C (p.Arg564Ser)	HS6ST2 (R524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609705	NM_001394073.1(HS6ST2):c.1681C>A (p.Leu561Met)	HS6ST2 (L521M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366433	NM_001394073.1(HS6ST2):c.1640A>C (p.His547Pro)	HS6ST2 (H507P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335895	NM_001394073.1(HS6ST2):c.1575G>T (p.Met525Ile)	HS6ST2 (M485I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107042	NM_001394073.1(HS6ST2):c.1538T>C (p.Ile513Thr)	HS6ST2 (I513T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546162	NM_001394073.1(HS6ST2):c.1339G>C (p.Val447Leu)	HS6ST2 (V407L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2212698	NM_001394073.1(HS6ST2):c.1241C>A (p.Pro414His)	HS6ST2 (P374H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456634	NM_001394073.1(HS6ST2):c.1226A>G (p.Asp409Gly)	HS6ST2 (D369G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326021	NM_001394073.1(HS6ST2):c.1220G>A (p.Gly407Asp)	HS6ST2 (G407D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218463	NM_001394073.1(HS6ST2):c.1064G>A (p.Gly355Glu)	HS6ST2, HS6ST2-AS1 (G355E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592776	NM_001394073.1(HS6ST2):c.1058A>G (p.Lys353Arg)	HS6ST2, HS6ST2-AS1 (K353R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107040	NM_001394073.1(HS6ST2):c.1045C>T (p.Arg349Trp)	HS6ST2, HS6ST2-AS1 (R349W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274116	NM_001394073.1(HS6ST2):c.994G>T (p.Gly332Cys)	HS6ST2, HS6ST2-AS1 (G332C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107048	NM_001394073.1(HS6ST2):c.992G>A (p.Arg331Gln)	HS6ST2, HS6ST2-AS1 (R331Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616450	NM_001394073.1(HS6ST2):c.941C>G (p.Pro314Arg)	HS6ST2 (P314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284824	NM_001394073.1(HS6ST2):c.915C>A (p.Asp305Glu)	HS6ST2 (D305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107047	NM_001394073.1(HS6ST2):c.905C>T (p.Ser302Phe)	HS6ST2 (S302F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300511	NM_001394073.1(HS6ST2):c.836C>G (p.Ser279Cys)	HS6ST2 (S279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329863	NM_001394073.1(HS6ST2):c.687C>G (p.Ile229Met)	HS6ST2 (I229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1028500	NM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln)	HS6ST2 (K218Q)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome +1 more	GUncertain significance
Select item 3107046	NM_001394073.1(HS6ST2):c.643C>G (p.Leu215Val)	HS6ST2 (L215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549388	NM_001394073.1(HS6ST2):c.604G>T (p.Ala202Ser)	HS6ST2 (A202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492874	NM_001394073.1(HS6ST2):c.572C>G (p.Pro191Arg)	HS6ST2 (P191R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569339	NM_001394073.1(HS6ST2):c.568G>A (p.Val190Met)	HS6ST2 (V190M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107045	NM_001394073.1(HS6ST2):c.384C>G (p.His128Gln)	HS6ST2 (H128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107044	NM_001394073.1(HS6ST2):c.353G>A (p.Gly118Asp)	HS6ST2 (G118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107043	NM_001394073.1(HS6ST2):c.254C>T (p.Pro85Leu)	HS6ST2 (P85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563888	NM_001394073.1(HS6ST2):c.89G>T (p.Arg30Leu)	HS6ST2 (R30L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2257582	NM_001394073.1(HS6ST2):c.16T>C (p.Cys6Arg)	HS6ST2 (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32