ClinVar for Gene (Select 139081) - 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 3292655	NM_138702.1(MAGEC3):c.1604G>C (p.Gly535Ala)	MAGEC3 (G237A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292654	NM_138702.1(MAGEC3):c.890A>C (p.Glu297Ala)	MAGEC3 (E297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292653	NM_138702.1(MAGEC3):c.1580A>G (p.Asp527Gly)	MAGEC3 (D527G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292652	NM_138702.1(MAGEC3):c.1414C>G (p.Gln472Glu)	MAGEC3 (Q472E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292650	NM_138702.1(MAGEC3):c.529G>C (p.Glu177Gln)	MAGEC3 (E177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292649	NM_138702.1(MAGEC3):c.667C>G (p.Pro223Ala)	MAGEC3 (P223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292648	NM_138702.1(MAGEC3):c.1067A>G (p.Gln356Arg)	MAGEC3 (Q356R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292647	NM_138702.1(MAGEC3):c.509C>G (p.Ala170Gly)	MAGEC3 (A170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292646	NM_138702.1(MAGEC3):c.1612A>T (p.Ile538Phe)	MAGEC3 (I538F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292645	NM_138702.1(MAGEC3):c.1861A>C (p.Thr621Pro)	MAGEC3 (T621P)	Single nucleotide variant (missense 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 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148879	GRCh37/hg19 Xq27.1-27.3(chrX:139794153-145119351)x2	SPANXC, SPANXN1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3122169	NM_138702.1(MAGEC3):c.770A>C (p.Asp257Ala)	MAGEC3 (D257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122168	NM_138702.1(MAGEC3):c.689G>C (p.Arg230Pro)	MAGEC3 (R230P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122167	NM_138702.1(MAGEC3):c.394A>C (p.Asn132His)	MAGEC3 (N132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122166	NM_138702.1(MAGEC3):c.1908G>A (p.Met636Ile)	MAGEC3 (M636I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122165	NM_138702.1(MAGEC3):c.1555G>T (p.Asp519Tyr)	MAGEC3 (D519Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122164	NM_138702.1(MAGEC3):c.1301G>T (p.Ser434Ile)	MAGEC3 (S136I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122163	NM_138702.1(MAGEC3):c.128G>T (p.Arg43Leu)	MAGEC3 (R43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122162	NM_138702.1(MAGEC3):c.1234C>T (p.Pro412Ser)	MAGEC3 (P114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122161	NM_138702.1(MAGEC3):c.1217G>T (p.Gly406Val)	MAGEC3 (G108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122160	NM_138702.1(MAGEC3):c.1162C>A (p.Pro388Thr)	MAGEC3 (P90T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062561	GRCh37/hg19 Xq26.3-27.3(chrX:137551658-145685497)	ATP11C, CDR1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3038029	NM_138702.1(MAGEC3):c.1698G>T (p.Glu566Asp)	MAGEC3 (E268D +1 more)	Single nucleotide variant (missense variant)	MAGEC3-related disorder	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 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685018	GRCh37/hg19 Xq27.2(chrX:140774849-141011857)x3	MAGEC1, MAGEC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2661553	NM_138702.1(MAGEC3):c.1239G>A (p.Gln413=)	MAGEC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661552	NM_138702.1(MAGEC3):c.475G>A (p.Val159Ile)	MAGEC3 (V159I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661551	NM_138702.1(MAGEC3):c.124-3T>C	MAGEC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2610454	NM_138702.1(MAGEC3):c.775A>G (p.Thr259Ala)	MAGEC3 (T259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590242	NM_138702.1(MAGEC3):c.1456G>A (p.Val486Ile)	MAGEC3 (V486I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570323	NM_138702.1(MAGEC3):c.1006A>G (p.Arg336Gly)	MAGEC3 (R336G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524104	NM_138702.1(MAGEC3):c.200G>A (p.Arg67Lys)	MAGEC3 (R67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512965	NM_138702.1(MAGEC3):c.911C>T (p.Pro304Leu)	MAGEC3 (P304L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509856	NM_138702.1(MAGEC3):c.1464G>T (p.Lys488Asn)	MAGEC3 (K190N +1 more)	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 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2467547	NM_138702.1(MAGEC3):c.842G>A (p.Ser281Asn)	MAGEC3 (S281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457214	NM_138702.1(MAGEC3):c.497G>C (p.Trp166Ser)	MAGEC3 (W166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402712	NM_138702.1(MAGEC3):c.1702A>T (p.Ile568Phe)	MAGEC3 (I270F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389166	NM_138702.1(MAGEC3):c.448A>C (p.Thr150Pro)	MAGEC3 (T150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373312	NM_138702.1(MAGEC3):c.143A>T (p.Asp48Val)	MAGEC3 (D48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361656	NM_138702.1(MAGEC3):c.1280G>A (p.Arg427Gln)	MAGEC3 (R427Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358692	NM_138702.1(MAGEC3):c.1552C>A (p.Pro518Thr)	MAGEC3 (P220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349463	NM_138702.1(MAGEC3):c.128G>A (p.Arg43Gln)	MAGEC3 (R43Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347769	NM_138702.1(MAGEC3):c.323C>T (p.Pro108Leu)	MAGEC3 (P108L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334291	NM_138702.1(MAGEC3):c.607G>A (p.Glu203Lys)	MAGEC3 (E203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291977	NM_138702.1(MAGEC3):c.64G>A (p.Val22Met)	MAGEC3 (V22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280176	NM_138702.1(MAGEC3):c.1891G>A (p.Ala631Thr)	MAGEC3 (A631T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268753	NM_138702.1(MAGEC3):c.1825A>G (p.Lys609Glu)	MAGEC3 (K609E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268201	NM_138702.1(MAGEC3):c.272T>C (p.Leu91Pro)	MAGEC3 (L91P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267063	NM_138702.1(MAGEC3):c.650C>G (p.Thr217Arg)	MAGEC3 (T217R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265430	NM_138702.1(MAGEC3):c.1015G>C (p.Glu339Gln)	MAGEC3 (E339Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262860	NM_138702.1(MAGEC3):c.478A>G (p.Ser160Gly)	MAGEC3 (S160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246542	NM_138702.1(MAGEC3):c.910C>A (p.Pro304Thr)	MAGEC3 (P304T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232598	NM_138702.1(MAGEC3):c.1193G>C (p.Gly398Ala)	MAGEC3 (G100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808671	GRCh37/hg19 Xq27.1-28(chrX:139493806-148855992)x1	AFF2, CDR1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1808312	GRCh37/hg19 Xq27.2(chrX:140683975-140951283)x4	MAGEC3, SPANXD	Copy number gain	not provided	GUncertain significance
Select item 1807801	GRCh37/hg19 Xq27.1-27.3(chrX:139510129-145119351)x3	CDR1, LDOC1 +16 more	Copy number gain	not provided	GPathogenic
Select item 1807692	GRCh37/hg19 Xq27.1-28(chrX:139504564-149382013)x2	AFF2, CDR1 +37 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 1526860	GRCh37/hg19 Xq27.1-27.3(chrX:139493805-145133362)	CDR1, LDOC1 +16 more	Copy number loss	not specified	GLikely pathogenic
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	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 1341022	GRCh37/hg19 Xq27.2(chrX:140979643-141920187)x2	MAGEC1, MAGEC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340595	GRCh37/hg19 Xq27.2(chrX:140666285-141043542)x2	MAGEC1, MAGEC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340056	GRCh37/hg19 Xq27.2(chrX:140779597-141011857)x2	MAGEC1, MAGEC3 +1 more	Copy number gain	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 1180513	GRCh37/hg19 Xq27.1-28(chrX:139484271-149442579)x1	AFF2, CDR1 +37 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 929357	GRCh37/hg19 Xq27.1-27.2(chrX:140210323-140932981)x3	LDOC1, MAGEC3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
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 789873	NM_138702.1(MAGEC3):c.683A>G (p.Lys228Arg)	MAGEC3 (K228R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779000	NM_138702.1(MAGEC3):c.455_471del (p.Tyr152fs)	MAGEC3 (Y152fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 688458	GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2	ATP11C, CDR1 +31 more	Copy number gain	not provided	GPathogenic
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	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 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685716	GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2	AFF2, CDR1 +37 more	Copy number gain	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

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