ClinVar for Gene (Select 9248) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282410	NM_004224.3(GPR50):c.928C>T (p.His310Tyr)	GPR50 (H310Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282409	NM_004224.3(GPR50):c.1721C>T (p.Pro574Leu)	GPR50 (P574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282408	NM_004224.3(GPR50):c.145G>T (p.Val49Phe)	GPR50, GPR50-AS1 (V49F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3282407	NM_004224.3(GPR50):c.316T>C (p.Phe106Leu)	GPR50 (F106L)	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 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 3101787	NM_004224.3(GPR50):c.990G>T (p.Gln330His)	GPR50 (Q330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101785	NM_004224.3(GPR50):c.937C>T (p.Arg313Trp)	GPR50 (R313W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101784	NM_004224.3(GPR50):c.61C>G (p.Pro21Ala)	GPR50, GPR50-AS1 (P21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101783	NM_004224.3(GPR50):c.584T>C (p.Ile195Thr)	GPR50 (I195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101782	NM_004224.3(GPR50):c.569T>C (p.Val190Ala)	GPR50 (V190A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101781	NM_004224.3(GPR50):c.311T>G (p.Val104Gly)	GPR50 (V104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101780	NM_004224.3(GPR50):c.299A>C (p.Gln100Pro)	GPR50 (Q100P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101779	NM_004224.3(GPR50):c.1834C>T (p.Pro612Ser)	GPR50 (P612S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101778	NM_004224.3(GPR50):c.1544C>T (p.Pro515Leu)	GPR50 (P515L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101777	NM_004224.3(GPR50):c.1450G>C (p.Ala484Pro)	GPR50 (A484P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101776	NM_004224.3(GPR50):c.1328C>T (p.Ser443Phe)	GPR50 (S443F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101775	NM_004224.3(GPR50):c.1189C>T (p.Arg397Cys)	GPR50 (R397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101774	NM_004224.3(GPR50):c.1157C>G (p.Pro386Arg)	GPR50 (P386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101773	NM_004224.3(GPR50):c.1096C>G (p.Arg366Gly)	GPR50 (R366G)	Single nucleotide variant (missense variant)	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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CPXCR1, MAGEE2 +488 more	Copy number gain	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 2661642	NM_004224.3(GPR50):c.1710G>A (p.Gly570=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661641	NM_004224.3(GPR50):c.882C>T (p.Tyr294=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661640	NM_004224.3(GPR50):c.558T>C (p.Pro186=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620885	NM_004224.3(GPR50):c.1783A>G (p.Thr595Ala)	GPR50 (T595A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603759	NM_004224.3(GPR50):c.17C>T (p.Ala6Val)	GPR50, GPR50-AS1 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594921	NM_004224.3(GPR50):c.98G>C (p.Cys33Ser)	GPR50, GPR50-AS1 (C33S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2539931	NM_004224.3(GPR50):c.1289G>A (p.Gly430Asp)	GPR50 (G430D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527796	NM_004224.3(GPR50):c.168C>G (p.Asn56Lys)	GPR50, GPR50-AS1 (N56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520866	NM_004224.3(GPR50):c.515A>G (p.Asp172Gly)	GPR50 (D172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518240	NM_004224.3(GPR50):c.428G>A (p.Arg143His)	GPR50 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517162	NM_004224.3(GPR50):c.1039C>T (p.Arg347Cys)	GPR50 (R347C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514469	NM_004224.3(GPR50):c.340G>A (p.Gly114Ser)	GPR50 (G114S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507601	NM_004224.3(GPR50):c.179G>A (p.Arg60Gln)	GPR50, GPR50-AS1 (R60Q)	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 2458099	NM_004224.3(GPR50):c.508G>A (p.Glu170Lys)	GPR50 (E170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457416	NM_004224.3(GPR50):c.92T>C (p.Met31Thr)	GPR50, GPR50-AS1 (M31T)	Single nucleotide variant (non-coding transcript 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	Severe X-linked myotubular myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2410427	NM_004224.3(GPR50):c.272T>C (p.Ile91Thr)	GPR50 (I91T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391570	NM_004224.3(GPR50):c.1181C>T (p.Ser394Phe)	GPR50 (S394F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386239	NM_004224.3(GPR50):c.863G>C (p.Cys288Ser)	GPR50 (C288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385120	NM_004224.3(GPR50):c.1012G>A (p.Ala338Thr)	GPR50 (A338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382215	NM_004224.3(GPR50):c.655C>A (p.Arg219Ser)	GPR50 (R219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373783	NM_004224.3(GPR50):c.586C>A (p.His196Asn)	GPR50 (H196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354248	NM_004224.3(GPR50):c.521G>A (p.Arg174His)	GPR50 (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305190	NM_004224.3(GPR50):c.287T>C (p.Leu96Pro)	GPR50 (L96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296042	NM_004224.3(GPR50):c.980G>A (p.Arg327His)	GPR50 (R327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286287	NM_004224.3(GPR50):c.1015C>T (p.Arg339Cys)	GPR50 (R339C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2284104	NM_004224.3(GPR50):c.1633C>T (p.Pro545Ser)	GPR50 (P545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279036	NM_004224.3(GPR50):c.1115G>C (p.Gly372Ala)	GPR50 (G372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250136	NM_004224.3(GPR50):c.55C>T (p.Pro19Ser)	GPR50, GPR50-AS1 (P19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218908	NM_004224.3(GPR50):c.1096C>T (p.Arg366Trp)	GPR50 (R366W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212552	NM_004224.3(GPR50):c.1010G>A (p.Arg337His)	GPR50 (R337H)	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 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	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 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 1206241	NM_004224.3(GPR50):c.178C>T (p.Arg60Trp)	GPR50, GPR50-AS1 (R60W)	Single nucleotide variant (missense variant)	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 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 789366	NM_004224.3(GPR50):c.555C>T (p.Asn185=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784999	NM_004224.3(GPR50):c.1689G>A (p.Ser563=)	GPR50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721171	NM_004224.3(GPR50):c.507C>T (p.Ile169=)	GPR50	Single nucleotide variant (synonymous 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 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 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 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 565259	GRCh37/hg19 Xq28(chrX:150095389-150643412)x3	HMGB3, VMA21 +2 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

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