ClinVar for Gene (Select 83550) - 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 3282183	NM_054021.2(GPR101):c.55A>T (p.Met19Leu)	GPR101 (M19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282182	NM_054021.2(GPR101):c.859A>G (p.Lys287Glu)	GPR101 (K287E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282181	NM_054021.2(GPR101):c.305A>G (p.His102Arg)	GPR101 (H102R)	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 3101366	NM_054021.2(GPR101):c.915G>C (p.Glu305Asp)	GPR101 (E305D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101364	NM_054021.2(GPR101):c.813G>C (p.Lys271Asn)	GPR101 (K271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101363	NM_054021.2(GPR101):c.563C>G (p.Ala188Gly)	GPR101 (A188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101362	NM_054021.2(GPR101):c.512G>A (p.Gly171Asp)	GPR101 (G171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101361	NM_054021.2(GPR101):c.1160C>G (p.Pro387Arg)	GPR101 (P387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101360	NM_054021.2(GPR101):c.1142G>A (p.Arg381His)	GPR101 (R381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068797	NM_054021.2(GPR101):c.17C>G (p.Thr6Ser)	GPR101 (T6S)	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	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2992015	NM_054021.2(GPR101):c.138C>T (p.Phe46=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976970	NM_054021.2(GPR101):c.1103A>T (p.Glu368Val)	GPR101 (E368V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2902898	NM_054021.2(GPR101):c.1312A>G (p.Ile438Val)	GPR101 (I438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879531	NM_054021.2(GPR101):c.1255G>T (p.Ala419Ser)	GPR101 (A419S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811610	NM_054021.2(GPR101):c.927C>A (p.Ser309Arg)	GPR101 (S309R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725661	NM_054021.2(GPR101):c.91G>A (p.Gly31Ser)	GPR101 (G31S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2721121	NM_054021.2(GPR101):c.827G>A (p.Arg276Lys)	GPR101 (R276K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2699970	NM_054021.2(GPR101):c.1136G>C (p.Ser379Thr)	GPR101 (S379T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2661526	NM_054021.2(GPR101):c.847A>C (p.Ser283Arg)	GPR101 (S283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661525	NM_054021.2(GPR101):c.1329C>T (p.Phe443=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609281	NM_054021.2(GPR101):c.658C>G (p.Arg220Gly)	GPR101 (R220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531369	NM_054021.2(GPR101):c.844G>C (p.Gly282Arg)	GPR101 (G282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513316	NM_054021.2(GPR101):c.963G>T (p.Lys321Asn)	GPR101 (K321N)	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 2467997	NM_054021.2(GPR101):c.1141C>T (p.Arg381Cys)	GPR101 (R381C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427163	NC_000023.10:g.(?_135730408)_(136113833_?)dup	ARHGEF6, CD40LG +2 more	Duplication	not provided	GPathogenic
Select item 2311178	NM_054021.2(GPR101):c.136T>G (p.Phe46Val)	GPR101 (F46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252347	NM_054021.2(GPR101):c.1493T>C (p.Ile498Thr)	GPR101 (I498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239981	NM_054021.2(GPR101):c.760G>A (p.Glu254Lys)	GPR101 (E254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202222	NM_054021.2(GPR101):c.886A>G (p.Ser296Gly)	GPR101 (S296G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2193756	NM_054021.2(GPR101):c.1102G>A (p.Glu368Lys)	GPR101 (E368K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2189298	NM_054021.2(GPR101):c.135T>C (p.Ser45=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2096919	NM_054021.2(GPR101):c.1101C>T (p.Val367=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027732	NM_054021.2(GPR101):c.365T>C (p.Ile122Thr)	GPR101 (I122T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927070	NM_054021.2(GPR101):c.531G>C (p.Glu177Asp)	GPR101 (E177D)	Single nucleotide variant (missense variant)	not provided	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 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 1611627	NM_054021.2(GPR101):c.878C>T (p.Thr293Ile)	GPR101 (T293I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1599934	NM_054021.2(GPR101):c.370G>T (p.Val124Leu)	GPR101 (V124L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1590841	NM_054021.2(GPR101):c.1294C>T (p.Pro432Ser)	GPR101 (P432S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1563029	NM_054021.2(GPR101):c.1127T>C (p.Leu376Pro)	GPR101 (L376P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1458589	NC_000023.10:g.(?_135067662)_(136652229_?)del	ADGRG4, ARHGEF6 +10 more	Deletion	Heterotaxy, visceral, 1, X-linked +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 1341130	GRCh37/hg19 Xq26.3(chrX:135767906-136348117)x3	ARHGEF6, GPR101 +1 more	Copy number gain	not provided	GPathogenic
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 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 787609	NM_054021.2(GPR101):c.735G>A (p.Glu245=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751974	NM_054021.2(GPR101):c.1506C>T (p.Tyr502=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746656	NM_054021.2(GPR101):c.531G>A (p.Glu177=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742741	NM_054021.2(GPR101):c.477C>T (p.Ala159=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737459	NM_054021.2(GPR101):c.892G>A (p.Val298Ile)	GPR101 (V298I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 727372	NM_054021.2(GPR101):c.1293A>G (p.Val431=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722009	NM_054021.2(GPR101):c.1525T>C (p.Ter509Arg)	GPR101	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 714970	NM_054021.2(GPR101):c.1225G>A (p.Val409Met)	GPR101 (V409M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713852	NM_054021.2(GPR101):c.255C>A (p.Ala85=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710256	NM_054021.2(GPR101):c.267G>A (p.Val89=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709528	NM_054021.2(GPR101):c.166T>C (p.Leu56=)	GPR101	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 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564891	GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	CT45A3, UTP14A +79 more	Copy number loss	not provided	GPathogenic
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	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 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 445921	NM_054021.2(GPR101):c.924G>A (p.Glu308=)	GPR101	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 445679	NM_054021.2(GPR101):c.712G>A (p.Val238Ile)	GPR101 (V238I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	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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