ClinVar for Gene (Select 27336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245190	NC_000023.10:g.(?_135288592)_(135741574_?)del	BRS3, ADGRG4 +5 more	Deletion	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 3107470	NM_014500.5(HTATSF1):c.2036A>G (p.Lys679Arg)	HTATSF1 (K679R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107469	NM_014500.5(HTATSF1):c.1837G>A (p.Glu613Lys)	HTATSF1 (E613K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107467	NM_014500.5(HTATSF1):c.1087G>C (p.Glu363Gln)	HTATSF1 (E363Q)	Single nucleotide variant (missense variant)	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 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	GPC4, TAF9B +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 2661521	NM_014500.5(HTATSF1):c.1014T>A (p.Gly338=)	HTATSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661520	NM_014500.5(HTATSF1):c.441T>C (p.Asp147=)	HTATSF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622043	NM_014500.5(HTATSF1):c.1466A>G (p.Asn489Ser)	HTATSF1 (N489S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2617275	NM_014500.5(HTATSF1):c.208A>G (p.Thr70Ala)	HTATSF1 (T70A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607027	NM_014500.5(HTATSF1):c.1556A>G (p.Lys519Arg)	HTATSF1 (K519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554693	NM_014500.5(HTATSF1):c.1961A>G (p.Lys654Arg)	HTATSF1 (K654R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541730	NM_014500.5(HTATSF1):c.1785T>A (p.Asn595Lys)	HTATSF1 (N595K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541442	NM_014500.5(HTATSF1):c.227G>A (p.Gly76Asp)	HTATSF1 (G76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510646	NM_014500.5(HTATSF1):c.2138C>G (p.Ser713Cys)	HTATSF1 (S713C)	Single nucleotide variant (missense variant)	not specified	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 2492502	NM_014500.5(HTATSF1):c.1279G>A (p.Asp427Asn)	HTATSF1 (D427N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488701	NM_014500.5(HTATSF1):c.172G>T (p.Ala58Ser)	HTATSF1 (A58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482337	NM_014500.5(HTATSF1):c.1202A>G (p.His401Arg)	HTATSF1 (H401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461549	NM_014500.5(HTATSF1):c.1226C>A (p.Ser409Tyr)	HTATSF1 (S409Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456370	NM_014500.5(HTATSF1):c.1471G>A (p.Val491Ile)	HTATSF1 (V491I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407483	NM_014500.5(HTATSF1):c.2189T>C (p.Phe730Ser)	HTATSF1 (F730S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2405284	NM_014500.5(HTATSF1):c.2174G>A (p.Gly725Glu)	HTATSF1 (G725E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375688	NM_014500.5(HTATSF1):c.1822G>A (p.Glu608Lys)	HTATSF1 (E608K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346216	NM_014500.5(HTATSF1):c.2092G>A (p.Glu698Lys)	HTATSF1 (E698K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321226	NM_014500.5(HTATSF1):c.202A>C (p.Ile68Leu)	HTATSF1 (I68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297651	NM_014500.5(HTATSF1):c.112C>G (p.Pro38Ala)	HTATSF1 (P38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230009	NM_014500.5(HTATSF1):c.2257G>A (p.Asp753Asn)	HTATSF1 (D753N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227630	NM_014500.5(HTATSF1):c.98A>T (p.Asp33Val)	HTATSF1 (D33V)	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 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 1458589	NC_000023.10:g.(?_135067662)_(136652229_?)del	HTATSF1, MAP7D3 +10 more	Deletion	Heterotaxy, visceral, 1, X-linked +2 more	GPathogenic
Select item 1342583	NC_000023.11:g.136487348_136507517dup	BRS3, HTATSF1 +1 more	Duplication	not provided	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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
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 980872	GRCh37/hg19 Xq26.3(chrX:135190085-135599019)x2	ADGRG4, BRS3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
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 688985	GRCh37/hg19 Xq26.3(chrX:135081343-135627105)x3	ADGRG4, BRS3 +5 more	Copy number gain	not provided	GUncertain significance
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 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 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 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 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
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	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	RBMX2, RBMXL3 +509 more	Copy number gain	See cases	GPathogenic
Select item 442965	GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	VGLL1, VMA21 +174 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	See cases	GPathogenic
Select item 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +523 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ATP11C, ATP1B4 +393 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ABCB7, ABCD1 +505 more	Copy number gain	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +266 more	Copy number loss	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +406 more	Copy number loss	See cases	GPathogenic
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 395495	GRCh37/hg19 Xq26.3(chrX:135570522-135582822)x2	BRS3, HTATSF1	Copy number gain	See cases	GUncertain significance
Select item 395443	GRCh37/hg19 Xq26.3(chrX:135570463-135582822)x3	BRS3, HTATSF1	Copy number gain	See cases	GUncertain significance
Select item 395442	GRCh37/hg19 Xq26.3(chrX:135570463-135582822)x2	BRS3, HTATSF1	Copy number gain	See cases	GUncertain significance
Select item 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	ABCD1, ACSL4 +387 more	Copy number loss	See cases	GPathogenic
Select item 395066	GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	ABCD1, ACSL4 +314 more	Copy number loss	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	GPKOW, PIN4 +819 more	Copy number gain	See cases	GPathogenic

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