HS6ST2[gene] and "single gene"[properties] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932641	NM_001394073.1(HS6ST2):c.1878G>A (p.Gln626=)	HS6ST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285356	NM_001394073.1(HS6ST2):c.1853C>T (p.Pro618Leu)	HS6ST2 (P578L +1 more)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GLikely benign
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 1722364	NM_001394073.1(HS6ST2):c.1742C>T (p.Pro581Leu)	HS6ST2 (P541L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 916142	NM_001394073.1(HS6ST2):c.1724A>G (p.Gln575Arg)	HS6ST2 (Q535R +1 more)	Single nucleotide variant (missense variant)	not provided	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 3032942	NM_001394073.1(HS6ST2):c.1666G>A (p.Glu556Lys)	HS6ST2 (E516K +1 more)	Single nucleotide variant (missense variant)	HS6ST2-related disorder	GUncertain significance
Select item 3038566	NM_001394073.1(HS6ST2):c.1648G>T (p.Ala550Ser)	HS6ST2 (A510S +1 more)	Single nucleotide variant (missense variant)	HS6ST2-related disorder	GLikely benign
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 3239330	NM_001394073.1(HS6ST2):c.1619A>G (p.Gln540Arg)	HS6ST2 (Q500R +1 more)	Single nucleotide variant (missense variant)	not provided	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 3037872	NM_001394073.1(HS6ST2):c.1531G>A (p.Glu511Lys)	HS6ST2 (E471K +1 more)	Single nucleotide variant (missense variant)	HS6ST2-related disorder	GBenign
Select item 871945	NM_001394073.1(HS6ST2):c.1481C>T (p.Ser494Leu)	HS6ST2 (S494L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661453	NM_001394073.1(HS6ST2):c.1406C>T (p.Ala469Val)	HS6ST2 (A429V +1 more)	Single nucleotide variant (missense variant)	not provided	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 2432533	NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)	HS6ST2 (N404S +1 more)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
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 1333759	NM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser)	HS6ST2 (R354S +1 more)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 711149	NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=)	HS6ST2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 2661455	NM_001394073.1(HS6ST2):c.917G>C (p.Gly306Ala)	HS6ST2 (G306A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 633697	NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg)	HS6ST2 (G306R)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GPathogenic
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 3233704	NM_001394073.1(HS6ST2):c.727G>A (p.Gly243Ser)	HS6ST2 (G243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661456	NM_001394073.1(HS6ST2):c.687C>T (p.Ile229=)	HS6ST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2581506	NM_001394073.1(HS6ST2):c.536A>G (p.Gln179Arg)	HS6ST2 (Q179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1213743	NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser)	HS6ST2 (G108S)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 714969	NM_001394073.1(HS6ST2):c.321G>T (p.Leu107=)	HS6ST2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2661457	NM_001394073.1(HS6ST2):c.237G>A (p.Ala79=)	HS6ST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 997000	NM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val)	HS6ST2 (A52V)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 770313	NM_001394073.1(HS6ST2):c.152G>T (p.Arg51Leu)	HS6ST2 (R51L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3042345	NM_001394073.1(HS6ST2):c.146C>T (p.Ser49Leu)	HS6ST2 (S49L)	Single nucleotide variant (missense variant)	HS6ST2-related disorder	GBenign
Select item 2563888	NM_001394073.1(HS6ST2):c.89G>T (p.Arg30Leu)	HS6ST2 (R30L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 997001	NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe)	HS6ST2 (V23F)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 3042057	NM_001394073.1(HS6ST2):c.23del (p.Val8fs)	HS6ST2 (V8fs)	Deletion (frameshift variant)	HS6ST2-related disorder	GBenign
Select item 3242065	NM_001394073.1(HS6ST2):c.18T>A (p.Cys6Ter)	HS6ST2 (C6*)	Single nucleotide variant (nonsense)	Paganini-Miozzo syndrome	GUncertain significance
Select item 2257582	NM_001394073.1(HS6ST2):c.16T>C (p.Cys6Arg)	HS6ST2 (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061204	NM_001394073.1(HS6ST2):c.14C>A (p.Ala5Glu)	HS6ST2 (A5E)	Single nucleotide variant (missense variant)	HS6ST2-related disorder	GUncertain significance

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Items: 55