ClinVar for Gene (Select 90161) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GUncertain significance
Select item 3042345	NM_001394073.1(HS6ST2):c.146C>T (p.Ser49Leu)	HS6ST2 (S49L)	Single nucleotide variant (missense variant)	HS6ST2-related condition	GBenign
Select item 3042057	NM_001394073.1(HS6ST2):c.23del (p.Val8fs)	HS6ST2 (V8fs)	Deletion (frameshift variant)	HS6ST2-related condition	GBenign
Select item 3038566	NM_001394073.1(HS6ST2):c.1648G>T (p.Ala550Ser)	HS6ST2 (A510S +1 more)	Single nucleotide variant (missense variant)	HS6ST2-related condition	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 condition	GBenign
Select item 3032942	NM_001394073.1(HS6ST2):c.1666G>A (p.Glu556Lys)	HS6ST2 (E516K +1 more)	Single nucleotide variant (missense variant)	HS6ST2-related condition	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +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)	Inborn genetic diseases	GUncertain significance
Select item 2609705	NM_001394073.1(HS6ST2):c.1681C>A (p.Leu561Met)	HS6ST2 (L521M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2563888	NM_001394073.1(HS6ST2):c.89G>T (p.Arg30Leu)	HS6ST2 (R30L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 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)	Inborn genetic diseases	GLikely benign
Select item 2469136	NM_001394073.1(HS6ST2):c.1843C>T (p.Arg615Trp)	HS6ST2 (R575W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456634	NM_001394073.1(HS6ST2):c.1226A>G (p.Asp409Gly)	HS6ST2 (D369G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2366433	NM_001394073.1(HS6ST2):c.1640A>C (p.His547Pro)	HS6ST2 (H507P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335895	NM_001394073.1(HS6ST2):c.1575G>T (p.Met525Ile)	HS6ST2 (M485I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329863	NM_001394073.1(HS6ST2):c.687C>G (p.Ile229Met)	HS6ST2 (I229M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326021	NM_001394073.1(HS6ST2):c.1220G>A (p.Gly407Asp)	HS6ST2 (G407D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300511	NM_001394073.1(HS6ST2):c.836C>G (p.Ser279Cys)	HS6ST2 (S279C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274116	NM_001394073.1(HS6ST2):c.994G>T (p.Gly332Cys)	HS6ST2-AS1, HS6ST2 (G332C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257582	NM_001394073.1(HS6ST2):c.16T>C (p.Cys6Arg)	HS6ST2 (C6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252799	NM_001394073.1(HS6ST2):c.1788C>G (p.Asn596Lys)	HS6ST2 (N596K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2212698	NM_001394073.1(HS6ST2):c.1241C>A (p.Pro414His)	HS6ST2 (P374H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	MIR224, MIR424 +793 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	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 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	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 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	CXorf49B, CXorf51A +821 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	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 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)	HS6ST2-related condition +1 more	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	RBMXL3, RENBP +821 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	RBMX2, RBMXL3 +525 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
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
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 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 625800	GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)	STK26, TFDP3 +9 more	Copy number loss	Nystagmus 1, congenital, X-linked +1 more	GPathogenic
Select item 564903	GRCh37/hg19 Xq26.2(chrX:131874401-132523914)x3	GPC4, USP26 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564898	GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1	ACTRT1, CT45A3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564891	GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	CT45A3, UTP14A +79 more	Copy number loss	not provided	GPathogenic
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic

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