ClinVar for Gene (Select 8776) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3215719	NM_001306144.3(MTMR1):c.971G>A (p.Arg324His)	MTMR1 (R222H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215709	NM_001306144.3(MTMR1):c.841G>T (p.Asp281Tyr)	MTMR1 (D290Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215704	NM_001306144.3(MTMR1):c.706A>C (p.Lys236Gln)	MTMR1 (K134Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215665	NM_001306144.3(MTMR1):c.2015C>T (p.Ser672Leu)	MTMR1 (S672L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215658	NM_001306144.3(MTMR1):c.1972C>T (p.Arg658Trp)	MTMR1 (R650W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	GPC4, TAF9B +488 more	Copy number gain	not provided	GPathogenic
Select item 2685725	GRCh37/hg19 Xq28(chrX:149650839-149937387)x1	CD99L2, MAMLD1 +2 more	Copy number loss	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	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 2661637	NM_001306144.3(MTMR1):c.1950C>T (p.Arg650=)	MTMR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661636	NM_001306144.3(MTMR1):c.1894G>A (p.Val632Ile)	MTMR1 (V530I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2661635	NM_001306144.3(MTMR1):c.66G>C (p.Pro22=)	MTMR1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2613912	NM_001306144.3(MTMR1):c.1670G>A (p.Arg557Gln)	MTMR1 (R549Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602439	NM_001306144.3(MTMR1):c.1147C>T (p.His383Tyr)	MTMR1 (H375Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601650	NM_001306144.3(MTMR1):c.970C>T (p.Arg324Cys)	MTMR1 (R316C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560318	NM_001306144.3(MTMR1):c.1655A>G (p.Asn552Ser)	MTMR1 (N450S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518161	NM_001306144.3(MTMR1):c.892G>C (p.Val298Leu)	MTMR1 (V290L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 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 2493868	NM_001306144.3(MTMR1):c.1816G>A (p.Val606Ile)	MTMR1 (V598I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489146	NM_001306144.3(MTMR1):c.667G>T (p.Ala223Ser)	MTMR1 (A121S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475577	NM_001306144.3(MTMR1):c.1747C>G (p.Pro583Ala)	MTMR1 (P481A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454774	NM_001306144.3(MTMR1):c.875C>T (p.Ala292Val)	MTMR1 (A292V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423473	NC_000023.10:g.(?_149613783)_(150573536_?)dup	CD99L2, GPR50 +6 more	Duplication	X-linked myopathy with excessive autophagy	GUncertain significance
Select item 2422668	NC_000023.10:g.(?_149613783)_(150573536_?)del	CD99L2, GPR50 +6 more	Deletion	X-linked myopathy with excessive autophagy +1 more	GConflicting classifications of pathogenicity
Select item 2378464	NM_001306144.3(MTMR1):c.1234G>A (p.Val412Met)	MTMR1 (V412M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377371	NM_001306144.3(MTMR1):c.20C>A (p.Ala7Glu)	MTMR1 (A7E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352598	NM_001306144.3(MTMR1):c.217T>A (p.Ser73Thr)	MTMR1 (S73T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340021	NM_001306144.3(MTMR1):c.699T>A (p.Asn233Lys)	MTMR1 (N242K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339655	NM_001306144.3(MTMR1):c.121C>A (p.Gln41Lys)	MTMR1 (Q41K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322352	NM_001306144.3(MTMR1):c.1973G>A (p.Arg658Gln)	MTMR1 (R556Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307445	NM_001306144.3(MTMR1):c.278C>G (p.Ala93Gly)	MTMR1 (A102G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302155	NM_001306144.3(MTMR1):c.491G>A (p.Arg164Lys)	MTMR1 (R164K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281308	NM_001306144.3(MTMR1):c.382A>T (p.Met128Leu)	MTMR1 (M26L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267411	NM_001306144.3(MTMR1):c.587A>G (p.Gln196Arg)	MTMR1 (Q188R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205657	NM_001306144.3(MTMR1):c.40G>A (p.Gly14Ser)	MTMR1 (G14S)	Single nucleotide variant (missense variant +2 more)	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 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 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	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526863	GRCh37/hg19 Xq27.3-28(chrX:146752853-150192253)	AFF2, CD99L2 +17 more	Copy number loss	not specified	GPathogenic
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	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1279285	NM_001306144.3(MTMR1):c.448-137G>A	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276158	NM_001306144.3(MTMR1):c.1081-305A>G	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257576	NM_001306144.3(MTMR1):c.146+65A>C	LOC130068800, MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252234	NM_001306144.3(MTMR1):c.891+284T>G	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238191	NM_001306144.3(MTMR1):c.1926C>T (p.Gly642=)	MTMR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1233021	NM_001306144.3(MTMR1):c.147-219_147-216del	MTMR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1232751	NM_001306144.3(MTMR1):c.891+162A>G	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231508	NM_001306144.3(MTMR1):c.277-41C>T	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228452	NM_001306144.3(MTMR1):c.1566+259A>G	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181836	NM_001306144.3(MTMR1):c.352+158C>T	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
Select item 1077156	GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1	LOC130068788, LOC130068789 +104 more	Copy number loss	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 980887	GRCh37/hg19 Xq28(chrX:149747506-150037141)x3	CD99L2, MTM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979241	GRCh37/hg19 Xq28(chrX:149702307-149971697)x3	MTMR1, CD99L2 +1 more	Copy number gain	not provided	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 831242	NC_000023.10:g.(?_149761067)_(150573540_?)dup	CD99L2, GPR50 +5 more	Duplication	Severe X-linked myotubular myopathy	GUncertain significance
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 777062	NM_001306144.3(MTMR1):c.1081-4G>A	MTMR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688190	GRCh37/hg19 Xq28(chrX:149838580-150125188)x2	CD99L2, MTM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 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 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 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	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 565258	GRCh37/hg19 Xq28(chrX:149535674-149896019)x3	MTM1, MAMLD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564913	GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	ABCD1, AFF2 +136 more	Copy number gain	not provided	GPathogenic
Select item 564912	GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	ABCD1, AFF2 +141 more	Copy number loss	not provided	GPathogenic
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	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 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443724	GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	ABCD1, AFF2 +120 more	Copy number loss	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 more	Copy number loss	See cases	GPathogenic

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