ClinVar for Gene (Select 158833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3334139	NM_001013579.3(AWAT1):c.711G>A (p.Met237Ile)	AWAT1 (M237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334128	NM_001013579.3(AWAT1):c.523G>A (p.Val175Met)	AWAT1 (V175M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334118	NM_001013579.3(AWAT1):c.916C>G (p.Leu306Val)	AWAT1 (L306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	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 3132446	NM_001013579.3(AWAT1):c.833T>C (p.Val278Ala)	AWAT1 (V278A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132445	NM_001013579.3(AWAT1):c.417G>T (p.Trp139Cys)	AWAT1 (W139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132444	NM_001013579.3(AWAT1):c.254C>T (p.Thr85Met)	AWAT1 (T85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2684990	GRCh37/hg19 Xq13.1(chrX:68923582-69563323)x3	ARR3, AWAT1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660806	NM_001013579.3(AWAT1):c.456C>G (p.Ala152=)	AWAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660805	NM_001013579.3(AWAT1):c.197C>T (p.Ser66Leu)	AWAT1 (S66L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2559649	NM_001013579.3(AWAT1):c.547G>C (p.Gly183Arg)	AWAT1 (G183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536934	NM_001013579.3(AWAT1):c.65A>G (p.Tyr22Cys)	AWAT1 (Y22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514943	NM_001013579.3(AWAT1):c.386G>A (p.Gly129Asp)	AWAT1 (G129D)	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 2352013	NM_001013579.3(AWAT1):c.931G>A (p.Asp311Asn)	AWAT1 (D311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349592	NM_001013579.3(AWAT1):c.796G>A (p.Gly266Arg)	AWAT1 (G266R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2300354	NM_001013579.3(AWAT1):c.334G>A (p.Ala112Thr)	AWAT1 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299582	NM_001013579.3(AWAT1):c.55C>A (p.Pro19Thr)	AWAT1 (P19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286669	NM_001013579.3(AWAT1):c.173C>A (p.Thr58Asn)	AWAT1 (T58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243982	NM_001013579.3(AWAT1):c.288C>G (p.His96Gln)	AWAT1 (H96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232116	NM_001013579.3(AWAT1):c.149C>T (p.Ala50Val)	AWAT1 (A50V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808158	GRCh37/hg19 Xq13.1(chrX:69216192-69529923)x3	ARR3, AWAT1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 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 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	AWAT1, AWAT2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	NALF2, NAP1L2 +92 more	Copy number gain	not specified	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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
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 979826	GRCh37/hg19 Xq13.1(chrX:69218433-69535034)x3	DGAT2L6, KIF4A +9 more	Copy number gain	not provided	GUncertain significance
Select item 731070	NM_001013579.3(AWAT1):c.873C>T (p.Ser291=)	AWAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
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 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 685277	GRCh37/hg19 Xq13.1(chrX:69437265-69583031)x2	ARR3, AWAT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 560091	Single allele	AWAT1, P2RY4 +3 more	Duplication	not provided	GUncertain significance
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	OR13H1, OTUD6A +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 441560	GRCh37/hg19 Xq13.1(chrX:68903474-69583031)x3	ARR3, AWAT1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253703	GRCh37/hg19 Xq13.1(chrX:69455964-69509119)x2	PDZD11, P2RY4 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic

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