ClinVar for Gene (Select 142684) - 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 3312182	NM_080879.3(RAB40A):c.433G>C (p.Ala145Pro)	LL0XNC01-250H12.3, RAB40A (A145P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312181	NM_080879.3(RAB40A):c.192G>C (p.Lys64Asn)	LL0XNC01-250H12.3, RAB40A (K64N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312180	NM_080879.3(RAB40A):c.813A>C (p.Arg271Ser)	LL0XNC01-250H12.3, RAB40A (R271S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312178	NM_080879.3(RAB40A):c.341A>G (p.Glu114Gly)	LL0XNC01-250H12.3, RAB40A (E114G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312177	NM_080879.3(RAB40A):c.386A>T (p.His129Leu)	LL0XNC01-250H12.3, RAB40A (H129L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 3150777	NM_080879.3(RAB40A):c.59T>C (p.Val20Ala)	LL0XNC01-250H12.3, RAB40A (V20A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150775	NM_080879.3(RAB40A):c.35A>G (p.Asp12Gly)	RAB40A, LL0XNC01-250H12.3 (D12G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150774	NM_080879.3(RAB40A):c.257G>T (p.Gly86Val)	LL0XNC01-250H12.3, RAB40A (G86V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150773	NM_080879.3(RAB40A):c.256G>A (p.Gly86Ser)	LL0XNC01-250H12.3, RAB40A (G86S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150771	NM_080879.3(RAB40A):c.163A>G (p.Thr55Ala)	LL0XNC01-250H12.3, RAB40A (T55A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2618722	NM_080879.3(RAB40A):c.310G>A (p.Gly104Ser)	LL0XNC01-250H12.3, RAB40A (G104S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2537278	NM_080879.3(RAB40A):c.199C>A (p.Leu67Ile)	LL0XNC01-250H12.3, RAB40A (L67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519015	NM_080879.3(RAB40A):c.734C>G (p.Thr245Ser)	LL0XNC01-250H12.3, RAB40A (T245S)	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 2479107	NM_080879.3(RAB40A):c.212C>T (p.Ser71Leu)	LL0XNC01-250H12.3, RAB40A (S71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462062	NM_080879.3(RAB40A):c.503C>T (p.Thr168Met)	LL0XNC01-250H12.3, RAB40A (T168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411199	NM_080879.3(RAB40A):c.209C>T (p.Thr70Met)	LL0XNC01-250H12.3, RAB40A (T70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384762	NM_080879.3(RAB40A):c.61G>A (p.Gly21Ser)	LL0XNC01-250H12.3, RAB40A (G21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362784	NM_080879.3(RAB40A):c.500T>C (p.Phe167Ser)	LL0XNC01-250H12.3, RAB40A (F167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332733	NM_080879.3(RAB40A):c.649A>G (p.Thr217Ala)	LL0XNC01-250H12.3, RAB40A (T217A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332633	NM_080879.3(RAB40A):c.647G>T (p.Ser216Ile)	LL0XNC01-250H12.3, RAB40A (S216I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277742	NM_080879.3(RAB40A):c.368T>G (p.Leu123Arg)	LL0XNC01-250H12.3, RAB40A (L123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809489	GRCh37/hg19 Xq22.2(chrX:102615980-102962669)x2	BEX3, MORF4L2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809321	GRCh37/hg19 Xq22.2(chrX:102625535-103022965)x3	BEX3, MORF4L2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 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	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 1526836	GRCh37/hg19 Xq22.1-22.2(chrX:102582446-103203574)	BEX3, MORF4L2 +9 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
Select item 1526833	GRCh37/hg19 Xq22.1-22.2(chrX:101331999-102771372)	ARMCX5, ARMCX5-GPRASP2 +21 more	Copy number loss	not specified	GPathogenic
Select item 1342848	NM_080879.3(RAB40A):c.125C>T (p.Pro42Leu)	LL0XNC01-250H12.3, RAB40A (P42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	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 1077188	Single allele	BEX2, BEX3 +12 more	Duplication	Pelizaeus-Merzbacher disease +1 more	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 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 830310	NC_000023.10:g.102632399_103221016del	BEX3, MORF4L2 +8 more	Deletion	Global developmental delay	GPathogenic
Select item 816375	GRCh37/hg19 Xq22.2(chrX:102742391-103109211)x2	MORF4L2, PLP1 +6 more	Copy number gain	not provided	GPathogenic
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 691853	GRCh37/hg19 Xq22.1-22.2(chrX:102543473-103398234)x0	BEX2, BEX3 +15 more	Copy number loss	not provided	GUncertain significance
Select item 691849	GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1	FAM199X, GPRASP1 +51 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691848	GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1	BEX1, BEX2 +27 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691847	GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1	BEX2, BEX3 +25 more	Copy number loss	Early Onset Neurological Disease Trait	GUncertain significance
Select item 691846	GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1	ARMCX2, ARMCX3 +40 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
Select item 691845	GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1	H2BW2, MORF4L2 +10 more	Copy number loss	Early Onset Neurological Disease Trait	GPathogenic
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 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	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564878	GRCh37/hg19 Xq22.2(chrX:102767250-103236332)x2	RAB40A, TCEAL1 +7 more	Copy number gain	not provided	GPathogenic
Select item 564877	GRCh37/hg19 Xq22.2(chrX:102718261-103490112)x2	TCEAL1, MORF4L2 +12 more	Copy number gain	not provided	GPathogenic
Select item 564876	GRCh37/hg19 Xq22.1-22.2(chrX:102463087-103281330)x3	TMSB15B, TCEAL7 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564875	GRCh37/hg19 Xq22.1-22.2(chrX:102443487-102995502)x3	TCEAL4, RAB40A +11 more	Copy number gain	not provided	GUncertain significance
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	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 443106	GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1	ACSL4, ALG13 +115 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 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	AP1S2, APEX2 +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	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 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	YIPF6, ZBTB33 +505 more	Copy number gain	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 441843	GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	PLP1, PLS3 +158 more	Copy number loss	See cases	GPathogenic
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 395717	GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684)	ARMCX2, BEX1 +63 more	Copy number gain	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 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	ABCD1, ACSL4 +387 more	Copy number loss	See cases	GPathogenic
Select item 394846	GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	ACSL4, ACTRT1 +180 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 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	TCEAL8, TCEAL9 +299 more	Copy number gain	See cases	GPathogenic

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