ClinVar for Gene (Select 90161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376352	NM_001394073.1(HS6ST2):c.25C>T (p.Arg9Trp)	HS6ST2 (R9W)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 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 3233704	NM_001394073.1(HS6ST2):c.727G>A (p.Gly243Ser)	HS6ST2 (G243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
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 3107047	NM_001394073.1(HS6ST2):c.905C>T (p.Ser302Phe)	HS6ST2 (S302F)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062484	GRCh37/hg19 Xq26.2(chrX:131553273-132113761)	HS6ST2, MBNL3	Copy number gain	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3061204	NM_001394073.1(HS6ST2):c.14C>A (p.Ala5Glu)	HS6ST2 (A5E)	Single nucleotide variant (missense variant)	HS6ST2-related disorder	GUncertain significance
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 3042057	NM_001394073.1(HS6ST2):c.23del (p.Val8fs)	HS6ST2 (V8fs)	Deletion (frameshift variant)	HS6ST2-related disorder	GBenign
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 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 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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685011	GRCh37/hg19 Xq26.2(chrX:131880125-132291149)x3	HS6ST2, USP26	Copy number gain	not provided	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 2661456	NM_001394073.1(HS6ST2):c.687C>T (p.Ile229=)	HS6ST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2661454	NM_001394073.1(HS6ST2):c.1011C>T (p.Asn337=)	HS6ST2, HS6ST2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2616450	NM_001394073.1(HS6ST2):c.941C>G (p.Pro314Arg)	HS6ST2 (P314R)	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 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 2581506	NM_001394073.1(HS6ST2):c.536A>G (p.Gln179Arg)	HS6ST2 (Q179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2549388	NM_001394073.1(HS6ST2):c.604G>T (p.Ala202Ser)	HS6ST2 (A202S)	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 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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 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 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 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 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 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 2329863	NM_001394073.1(HS6ST2):c.687C>G (p.Ile229Met)	HS6ST2 (I229M)	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 2300511	NM_001394073.1(HS6ST2):c.836C>G (p.Ser279Cys)	HS6ST2 (S279C)	Single nucleotide variant (missense variant)	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 2257582	NM_001394073.1(HS6ST2):c.16T>C (p.Cys6Arg)	HS6ST2 (C6R)	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 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 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 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1807615	GRCh37/hg19 Xq26.2(chrX:131683341-132195292)x3	HS6ST2, USP26	Copy number gain	not provided	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 1710922	GRCh37/hg19 Xq26.1-26.2(chrX:129711889-132794615)x3	ARHGAP36, ENOX2 +11 more	Copy number gain	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526854	GRCh37/hg19 Xq26.2(chrX:131859871-132462828)	GPC4, HS6ST2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
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 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 1213743	NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser)	HS6ST2 (G108S)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
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 997001	NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe)	HS6ST2 (V23F)	Single nucleotide variant (missense variant)	Paganini-Miozzo syndrome	GUncertain significance
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 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 932641	NM_001394073.1(HS6ST2):c.1878G>A (p.Gln626=)	HS6ST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
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 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 770313	NM_001394073.1(HS6ST2):c.152G>T (p.Arg51Leu)	HS6ST2 (R51L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714969	NM_001394073.1(HS6ST2):c.321G>T (p.Leu107=)	HS6ST2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 688047	GRCh37/hg19 Xq26.2(chrX:131860401-132462829)x3	GPC4, HS6ST2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685626	GRCh37/hg19 Xq26.2(chrX:131864764-132517869)x2	GPC4, HS6ST2 +2 more	Copy number gain	not provided	GUncertain significance

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