ClinVar for Gene (Select 401612) - 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 3334144	NM_001143978.3(ZCCHC18):c.1087G>A (p.Asp363Asn)	SLC25A53, ZCCHC18 (D363N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334143	NM_001143978.3(ZCCHC18):c.830A>C (p.Glu277Ala)	SLC25A53, ZCCHC18 (E277A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319275	NM_001012755.5(SLC25A53):c.178A>G (p.Met60Val)	SLC25A53 (M60V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319274	NM_001012755.5(SLC25A53):c.174T>A (p.His58Gln)	SLC25A53 (H58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319273	NM_001012755.5(SLC25A53):c.40C>T (p.His14Tyr)	SLC25A53 (H14Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319272	NM_001012755.5(SLC25A53):c.116T>C (p.Phe39Ser)	SLC25A53 (F39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319271	NM_001012755.5(SLC25A53):c.106G>A (p.Val36Ile)	SLC25A53 (V36I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3192514	NM_001143978.3(ZCCHC18):c.958T>C (p.Ser320Pro)	SLC25A53, ZCCHC18 (S320P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192513	NM_001143978.3(ZCCHC18):c.8G>C (p.Ser3Thr)	SLC25A53, ZCCHC18 (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192512	NM_001143978.3(ZCCHC18):c.737T>C (p.Val246Ala)	SLC25A53, ZCCHC18 (V246A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192511	NM_001143978.3(ZCCHC18):c.633G>C (p.Glu211Asp)	SLC25A53, ZCCHC18 (E211D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192510	NM_001143978.3(ZCCHC18):c.607C>A (p.Gln203Lys)	SLC25A53, ZCCHC18 (Q203K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192509	NM_001143978.3(ZCCHC18):c.129A>C (p.Arg43Ser)	SLC25A53, ZCCHC18 (R43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163811	NM_001012755.5(SLC25A53):c.476A>G (p.Lys159Arg)	SLC25A53 (K159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163810	NM_001012755.5(SLC25A53):c.388G>A (p.Val130Met)	SLC25A53 (V130M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163809	NM_001012755.5(SLC25A53):c.349C>T (p.Arg117Cys)	SLC25A53 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163807	NM_001012755.5(SLC25A53):c.23C>A (p.Pro8His)	SLC25A53 (P8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163806	NM_001012755.5(SLC25A53):c.160C>T (p.Arg54Trp)	SLC25A53 (R54W)	Single nucleotide variant (missense variant)	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 2661108	NM_001143978.3(ZCCHC18):c.891C>T (p.Phe297=)	SLC25A53, ZCCHC18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620004	NM_001012755.5(SLC25A53):c.902G>A (p.Arg301Lys)	SLC25A53 (R301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607269	NM_001143978.3(ZCCHC18):c.512A>C (p.Asn171Thr)	SLC25A53, ZCCHC18 (N171T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555630	NM_001012755.5(SLC25A53):c.863C>T (p.Thr288Met)	SLC25A53 (T288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539192	NM_001012755.5(SLC25A53):c.506G>A (p.Arg169Gln)	SLC25A53 (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508701	NM_001012755.5(SLC25A53):c.896A>T (p.His299Leu)	SLC25A53 (H299L)	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 2477471	NM_001012755.5(SLC25A53):c.344G>C (p.Gly115Ala)	SLC25A53 (G115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477470	NM_001012755.5(SLC25A53):c.343G>A (p.Gly115Arg)	SLC25A53 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465205	NM_001012755.5(SLC25A53):c.902G>T (p.Arg301Met)	SLC25A53 (R301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400420	NM_001143978.3(ZCCHC18):c.86T>C (p.Leu29Pro)	SLC25A53, ZCCHC18 (L29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397974	NM_001143978.3(ZCCHC18):c.863C>T (p.Ser288Leu)	SLC25A53, ZCCHC18 (S288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362023	NM_001012755.5(SLC25A53):c.586A>C (p.Lys196Gln)	SLC25A53 (K196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350444	NM_001143978.3(ZCCHC18):c.844G>T (p.Val282Leu)	SLC25A53, ZCCHC18 (V282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347848	NM_001143978.3(ZCCHC18):c.566G>A (p.Arg189His)	SLC25A53, ZCCHC18 (R189H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333141	NM_001143978.3(ZCCHC18):c.433G>T (p.Ala145Ser)	SLC25A53, ZCCHC18 (A145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327105	NM_001012755.5(SLC25A53):c.39G>T (p.Gln13His)	SLC25A53 (Q13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315152	NM_001143978.3(ZCCHC18):c.1156G>A (p.Glu386Lys)	SLC25A53, ZCCHC18 (E386K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307236	NM_001143978.3(ZCCHC18):c.685C>T (p.Arg229Trp)	SLC25A53, ZCCHC18 (R229W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282281	NM_001012755.5(SLC25A53):c.475A>G (p.Lys159Glu)	SLC25A53 (K159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279661	NM_001143978.3(ZCCHC18):c.971G>A (p.Ser324Asn)	SLC25A53, ZCCHC18 (S324N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212167	NM_001012755.5(SLC25A53):c.597C>G (p.Ile199Met)	SLC25A53 (I199M)	Single nucleotide variant (missense variant)	not specified	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 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526837	GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)	ESX1, FAM199X +8 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 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 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
Select item 1206047	NM_001143978.3(ZCCHC18):c.967A>G (p.Thr323Ala)	SLC25A53, ZCCHC18 (T323A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 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 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 627649	NM_001012755.5(SLC25A53):c.-22690_-32+1371dup	FAM199X, IL1RAPL2 +2 more	Duplication	9q34 microduplication syndrome	GUncertain significance
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564877	GRCh37/hg19 Xq22.2(chrX:102718261-103490112)x2	TCEAL1, MORF4L2 +12 more	Copy number gain	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	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

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