ClinVar for Gene (Select 3476) - 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 3285470	NM_001551.3(IGBP1):c.561G>C (p.Glu187Asp)	IGBP1 (E187D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285469	NM_001551.3(IGBP1):c.410A>T (p.His137Leu)	IGBP1 (H137L)	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 3108482	NM_001551.3(IGBP1):c.907C>G (p.Gln303Glu)	IGBP1 (Q303E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108481	NM_001551.3(IGBP1):c.842C>T (p.Pro281Leu)	IGBP1 (P189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108480	NM_001551.3(IGBP1):c.790A>G (p.Thr264Ala)	IGBP1 (T264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108479	NM_001551.3(IGBP1):c.554A>G (p.Asp185Gly)	IGBP1 (D185G)	Single nucleotide variant (missense variant +1 more)	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 2684991	GRCh37/hg19 Xq13.1(chrX:69155614-69403994)x3	AWAT2, DGAT2L6 +3 more	Copy number gain	not provided	GUncertain significance
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 2660802	NM_001551.3(IGBP1):c.-55T>A	IGBP1, LOC130068396	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2636981	NM_001551.3(IGBP1):c.718G>C (p.Val240Leu)	IGBP1 (V240L)	Single nucleotide variant (missense variant +1 more)	IGBP1-related disorder	GUncertain significance
Select item 2632140	NM_001551.3(IGBP1):c.380C>T (p.Pro127Leu)	IGBP1 (P127L)	Single nucleotide variant (missense variant)	IGBP1-related disorder	GUncertain significance
Select item 2535119	NM_001551.3(IGBP1):c.95C>A (p.Pro32His)	IGBP1, LOC130068396 (P32H)	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 2482509	NM_001551.3(IGBP1):c.323A>G (p.His108Arg)	IGBP1 (H108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470994	NM_001551.3(IGBP1):c.700C>T (p.Arg234Cys)	IGBP1 (R234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2432812	NM_001551.3(IGBP1):c.797C>T (p.Thr266Met)	IGBP1 (T174M +1 more)	Single nucleotide variant (missense variant)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GUncertain significance
Select item 2432811	NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile)	IGBP1 (T89I)	Single nucleotide variant (missense variant)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GUncertain significance
Select item 2228017	NM_001551.3(IGBP1):c.354C>G (p.Cys118Trp)	IGBP1 (C118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220995	NM_001551.3(IGBP1):c.578A>G (p.Tyr193Cys)	IGBP1 (Y193C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1337237	NM_001551.3(IGBP1):c.27G>T (p.Leu9=)	IGBP1, LOC130068396	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1299453	NM_001551.3(IGBP1):c.5C>G (p.Ala2Gly)	IGBP1, LOC130068396 (A2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274607	NM_001551.3(IGBP1):c.871+159T>C	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262781	NM_001551.3(IGBP1):c.758+279T>G	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262474	NM_001551.3(IGBP1):c.872-208T>C	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257271	NM_001551.3(IGBP1):c.758+163T>C	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247261	NM_001551.3(IGBP1):c.871+212T>G	IGBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206318	NM_001551.3(IGBP1):c.536T>C (p.Val179Ala)	IGBP1 (V179A)	Single nucleotide variant (missense variant +1 more)	IGBP1-related disorder +1 more	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 1027940	NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys)	IGBP1 (Y332C +1 more)	Single nucleotide variant (missense variant)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	GUncertain significance
Select item 1027939	NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala)	IGBP1, LOC130068396 (P13A)	Single nucleotide variant (missense variant)	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia 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 979826	GRCh37/hg19 Xq13.1(chrX:69218433-69535034)x3	DGAT2L6, KIF4A +9 more	Copy number gain	not provided	GUncertain significance
Select item 785703	NM_001551.3(IGBP1):c.99C>T (p.Ala33=)	IGBP1, LOC130068396	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747670	NM_001551.3(IGBP1):c.824G>A (p.Arg275Gln)	IGBP1 (R183Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 730942	NM_001551.3(IGBP1):c.597G>A (p.Arg199=)	IGBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723639	NM_001551.3(IGBP1):c.303T>C (p.His101=)	IGBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716736	NM_001551.3(IGBP1):c.882A>G (p.Arg294=)	IGBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709966	NM_001551.3(IGBP1):c.15C>T (p.Asp5=)	IGBP1, LOC130068396	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 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 564855	GRCh37/hg19 Xq13.1(chrX:69013432-69431334)x1	DGAT2L6, EDA +3 more	Copy number loss	not provided	GUncertain significance
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 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 499182	NM_001551.3(IGBP1):c.608T>C (p.Ile203Thr)	IGBP1 (I203T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
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 435496	NM_001551.3(IGBP1):c.872-3T>C	IGBP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 435495	NM_001551.3(IGBP1):c.715C>T (p.Pro239Ser)	IGBP1 (P239S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 435494	NM_001551.3(IGBP1):c.872-4T>G	IGBP1	Single nucleotide variant (intron variant)	not specified	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 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

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