ClinVar for Gene (Select 9823) - 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 3315815	NM_177949.4(ARMCX2):c.83C>A (p.Thr28Asn)	ARMCX2 (T28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315805	NM_177949.4(ARMCX2):c.509C>G (p.Ala170Gly)	ARMCX2 (A170G)	Single nucleotide variant (missense variant)	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 3129696	NM_177949.4(ARMCX2):c.92G>C (p.Arg31Thr)	ARMCX2 (R31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129695	NM_177949.4(ARMCX2):c.883G>A (p.Gly295Ser)	ARMCX2 (G295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129694	NM_177949.4(ARMCX2):c.824C>T (p.Thr275Ile)	ARMCX2 (T275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129693	NM_177949.4(ARMCX2):c.679A>G (p.Thr227Ala)	ARMCX2 (T227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129692	NM_177949.4(ARMCX2):c.364G>T (p.Gly122Trp)	ARMCX2 (G122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129691	NM_177949.4(ARMCX2):c.215C>T (p.Pro72Leu)	ARMCX2 (P72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129690	NM_177949.4(ARMCX2):c.193C>G (p.Leu65Val)	ARMCX2 (L65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129689	NM_177949.4(ARMCX2):c.131G>A (p.Arg44Gln)	ARMCX2 (R44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062523	GRCh37/hg19 Xq22.1(chrX:100439132-100918059)	ARMCX1, ARMCX2 +12 more	Copy number gain	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 2661070	NM_177949.4(ARMCX2):c.294G>T (p.Val98=)	ARMCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661069	NM_177949.4(ARMCX2):c.1290C>A (p.Leu430=)	ARMCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661068	NM_177949.4(ARMCX2):c.1689A>G (p.Glu563=)	ARMCX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596980	NM_177949.4(ARMCX2):c.458A>G (p.Glu153Gly)	ARMCX2 (E153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555107	NM_177949.4(ARMCX2):c.430G>A (p.Gly144Arg)	ARMCX2 (G144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551222	NM_177949.4(ARMCX2):c.1060T>C (p.Ser354Pro)	ARMCX2 (S354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525798	NM_177949.4(ARMCX2):c.275C>G (p.Thr92Arg)	ARMCX2 (T92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520652	NM_177949.4(ARMCX2):c.628G>A (p.Gly210Arg)	ARMCX2 (G210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508417	NM_177949.4(ARMCX2):c.343G>T (p.Ala115Ser)	ARMCX2 (A115S)	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 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	RPL36A, RPL36A-HNRNPH2 +25 more	Deletion	not provided	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 2406849	NM_177949.4(ARMCX2):c.313G>A (p.Ala105Thr)	ARMCX2 (A105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389911	NM_177949.4(ARMCX2):c.674C>T (p.Thr225Met)	ARMCX2 (T225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358494	NM_177949.4(ARMCX2):c.1739A>G (p.Asn580Ser)	ARMCX2 (N580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347308	NM_177949.4(ARMCX2):c.52G>T (p.Ala18Ser)	ARMCX2 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332209	NM_177949.4(ARMCX2):c.221C>A (p.Pro74Gln)	ARMCX2 (P74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279585	NM_177949.4(ARMCX2):c.397G>A (p.Ala133Thr)	ARMCX2 (A133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272882	NM_177949.4(ARMCX2):c.620A>C (p.Glu207Ala)	ARMCX2 (E207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250528	NM_177949.4(ARMCX2):c.10G>A (p.Val4Ile)	ARMCX2 (V4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242347	NM_177949.4(ARMCX2):c.934C>T (p.Arg312Cys)	ARMCX2 (R312C)	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 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 1340489	GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3	NXF2B, SYTL4 +38 more	Copy number gain	not provided	GUncertain significance
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 1205856	NM_177949.4(ARMCX2):c.628G>C (p.Gly210Arg)	ARMCX2 (G210R)	Single nucleotide variant (missense variant)	not specified	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 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 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 686378	GRCh37/hg19 Xq22.1(chrX:100713166-101024110)x2	ARMCX1, ARMCX2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686068	GRCh37/hg19 Xq22.1(chrX:100868897-102422345)x1	ARMCX2, ARMCX3 +19 more	Copy number loss	not provided	GPathogenic
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 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 442008	GRCh37/hg19 Xq22.1(chrX:100852505-101986687)x0	ARMCX2, ARMCX3 +16 more	Copy number loss	See cases	GLikely pathogenic
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
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

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