ClinVar for Gene (Select 8226) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370373	GRCh38/hg38 Xp22.31(chrX:6787227-7351587)x3	LOC113875037, LOC130067909 +12 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370371	GRCh38/hg38 Xp22.31(chrX:6634671-8147112)x2	LOC113875037, LOC121627957 +24 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3363162	Single allele	LOC106029240, LOC113875037 +26 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242318	GRCh37/hg19 Xp22.31(chrX:6450986-8136530)x3	PNPLA4, PUDP +3 more	Copy number gain	not provided	GUncertain significance
Select item 3242304	GRCh37/hg19 Xp22.31(chrX:6451998-8136170)x1	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 3149775	NM_012080.5(PUDP):c.680A>G (p.Tyr227Cys)	PUDP (Y250C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149774	NM_012080.5(PUDP):c.473G>A (p.Cys158Tyr)	PUDP (C115Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149773	NM_012080.5(PUDP):c.361G>A (p.Asp121Asn)	PUDP (D121N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149772	NM_012080.5(PUDP):c.307C>T (p.Arg103Trp)	PUDP (R126W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149771	NM_012080.5(PUDP):c.22G>T (p.Val8Phe)	LOC130067915, PUDP +1 more (V8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149770	NM_012080.5(PUDP):c.110A>C (p.Tyr37Ser)	PUDP (Y37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148954	GRCh37/hg19 Xp22.31(chrX:6645873-8110204)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 3148945	GRCh37/hg19 Xp22.31(chrX:6455152-8135568)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GUncertain significance
Select item 3148931	GRCh37/hg19 Xp22.31(chrX:6440777-8127580)x3	PNPLA4, PUDP +3 more	Copy number gain	not provided	GUncertain significance
Select item 3148914	GRCh37/hg19 Xp22.31(chrX:6455151-8143319)x2	PNPLA4, PUDP +3 more	Copy number gain	See cases	GUncertain significance
Select item 3148904	GRCh37/hg19 Xp22.31(chrX:6455152-8141076)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GUncertain significance
Select item 3148902	GRCh37/hg19 Xp22.31(chrX:6455152-8135644)x0	PNPLA4, PUDP +2 more	Copy number loss	See cases	GUncertain significance
Select item 3148888	GRCh37/hg19 Xp22.31(chrX:6458941-8021639)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GUncertain significance
Select item 3148865	GRCh37/hg19 Xp22.31(chrX:6455151-8135644)x2	PNPLA4, PUDP +2 more	Copy number gain	See cases	GUncertain significance
Select item 3148853	GRCh37/hg19 Xp22.31(chrX:6449837-7539155)x2	PUDP, STS +1 more	Copy number gain	not provided	GUncertain significance
Select item 3148848	GRCh37/hg19 Xp22.31(chrX:6455152-8135568)x3	PNPLA4, PUDP +2 more	Copy number gain	See cases	GUncertain significance
Select item 3148845	GRCh37/hg19 Xp22.31(chrX:6140022-8599803)x3	ANOS1, VCX2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148841	GRCh37/hg19 Xp22.31(chrX:6455152-8135644)x3	PNPLA4, PUDP +2 more	Copy number gain	not provided	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062505	GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816)	WWC3, ANOS1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	ARSD, ARSD-AS1 +11 more	Copy number loss	not specified	GPathogenic
Select item 3062476	GRCh37/hg19 Xp22.31(chrX:6938911-7902806)	PNPLA4, PUDP +2 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3024648	GRCh37/hg19 Xp22.31(chrX:6515107-8123681)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 3024126	GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0	LOC130067916, LOC130067917 +17 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685693	GRCh37/hg19 Xp22.31(chrX:6778999-8075687)x1	PUDP, PNPLA4 +2 more	Copy number loss	not provided	GPathogenic
Select item 2685692	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x1	PNPLA4, PUDP +8 more	Copy number loss	not provided	GPathogenic
Select item 2685691	GRCh37/hg19 Xp22.31(chrX:6455150-8135644)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685221	GRCh37/hg19 Xp22.31(chrX:6658871-8110243)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2685110	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x0	ANOS1, FAM9A +8 more	Copy number loss	not provided	GPathogenic
Select item 2684396	GRCh37/hg19 Xp22.31(chrX:6568478-7898751)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2671626	Single allele	PNPLA4, PUDP +2 more	Deletion	not provided	GPathogenic
Select item 2661880	GRCh37/hg19 Xp22.31(chrX:6968337-7894160)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2659915	NM_012080.5(PUDP):c.171G>A (p.Ala57=)	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659914	NM_012080.5(PUDP):c.231A>G (p.Glu77=)	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659913	NM_012080.5(PUDP):c.270G>A (p.Ala90=)	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659912	NM_012080.5(PUDP):c.511-7262A>G	PUDP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579751	Single allele	LOC113875037, LOC130067909 +12 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2506547	GRCh37/hg19 Xp22.31(chrX:6968337-8434424)	PNPLA4, PUDP +4 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499159	GRCh37/hg19 Xp22.31(chrX:6451786-7894160)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 2463226	NM_012080.5(PUDP):c.82G>C (p.Val28Leu)	PUDP (V28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402526	NM_012080.5(PUDP):c.291A>T (p.Lys97Asn)	PUDP (K54N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388800	NM_012080.5(PUDP):c.616A>G (p.Lys206Glu)	PUDP (K163E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340316	NM_012080.5(PUDP):c.43A>G (p.Met15Val)	LOC130067915, PUDP +1 more (M15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2303060	NM_012080.5(PUDP):c.376C>T (p.Arg126Cys)	PUDP (R126C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232403	NM_012080.5(PUDP):c.269C>T (p.Ala90Val)	PUDP (A113V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212704	NM_012080.5(PUDP):c.323C>T (p.Pro108Leu)	PUDP (P108L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809291	GRCh37/hg19 Xp22.31(chrX:6647161-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1808747	GRCh37/hg19 Xp22.31(chrX:6991617-7784674)x2	PUDP, STS	Copy number gain	not provided	GUncertain significance
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808145	GRCh37/hg19 Xp22.31(chrX:6591186-7074863)x2	PUDP	Copy number gain	not provided	GUncertain significance
Select item 1807900	GRCh37/hg19 Xp22.33-22.31(chrX:1626596-7832236)x3	ARSD, ARSD-AS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807764	GRCh37/hg19 Xp22.31(chrX:6658781-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1708462	GRCh37/hg19 Xp22.31(chrX:6677961-8144721)x3	PNPLA4, PUDP +3 more	Copy number gain	See cases	GPathogenic
Select item 1707443	GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1	ANOS1, ARSD +24 more	Copy number loss	See cases	GPathogenic
Select item 1707438	GRCh37/hg19 Xp22.31(chrX:6980979-7891559)x1	PNPLA4, PUDP +2 more	Copy number loss	See cases	GPathogenic
Select item 1707431	GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x2	PNPLA4, PUDP +3 more	Copy number gain	See cases	GPathogenic
Select item 1706494	GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	GYG2, ANOS1 +23 more	Copy number loss	See cases	GPathogenic
Select item 1705880	GRCh37/hg19 Xp22.31(chrX:6467006-8131810)x3	PNPLA4, PUDP +4 more	Copy number gain	Global developmental delay	GLikely benign
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 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 1703531	GRCh37/hg19 Xp22.31(chrX:6954111-8058641)	PNPLA4, PUDP +2 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
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 1341122	GRCh37/hg19 Xp22.31(chrX:6722953-7570280)x0	PUDP, STS	Copy number loss	not provided	GPathogenic
Select item 1340200	GRCh37/hg19 Xp22.31(chrX:6112444-8257510)x2	NLGN4X, PNPLA4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1339830	GRCh37/hg19 Xp22.31(chrX:6455149-8143242)x1	PNPLA4, PUDP +3 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	Gnot provided
Select item 1330205	GRCh37/hg19 Xp22.31(chrX:6624655-7894210)x1	PNPLA4, PUDP +2 more	Copy number loss	Atonic seizure +2 more	GUncertain significance
Select item 1328461	GRCh37/hg19 Xp22.31(chrX:6453209-8132826)x3	PNPLA4, PUDP +2 more	Copy number gain	not provided	GUncertain significance
Select item 1300213	GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0	PNPLA4, PUDP +4 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1300212	GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0	PNPLA4, PUDP +3 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 1184817	GRCh37/hg19 Xp22.31(chrX:6454182-8115193)x1	PNPLA4, PUDP +2 more	Copy number loss	X-linked deletion syndrome	GLikely pathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180518	GRCh37/hg19 Xp22.31(chrX:6451623-8136851)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 1172822	Single allele	PNPLA4, PUDP +4 more	Deletion	Cerebral palsy	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 983162	GRCh37/hg19 Xp22.31(chrX:6453324-8136507)x0	PNPLA4, PUDP +2 more	Copy number loss	See cases	GPathogenic
Select item 980842	GRCh37/hg19 Xp22.31(chrX:7000688-7241455)x2	PUDP, STS	Copy number gain	not provided	GUncertain significance
Select item 980837	GRCh37/hg19 Xp22.31(chrX:6715352-7806067)x0	PUDP, STS	Copy number loss	not provided	GPathogenic
Select item 973601	GRCh37/hg19 Xp22.31(chrX:7056909-8005133)x3	PNPLA4, PUDP +2 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 929373	GRCh37/hg19 Xp22.31(chrX:6476350-8135053)x3	PNPLA4, PUDP +2 more	Copy number gain	See cases	GLikely pathogenic
Select item 929372	GRCh37/hg19 Xp22.31(chrX:6458166-8135053)x2	PNPLA4, PUDP +2 more	Copy number gain	See cases	GLikely pathogenic
Select item 929313	GRCh37/hg19 Xp22.31(chrX:6450700-8138035)x2	PNPLA4, PUDP +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic

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