ClinVar for Gene (Select 285601) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282247	NM_199243.3(GPR150):c.628G>C (p.Ala210Pro)	GPR150 (A210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282246	NM_199243.3(GPR150):c.1236C>G (p.Asp412Glu)	GPR150 (D412E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282245	NM_199243.3(GPR150):c.491T>G (p.Leu164Arg)	GPR150, LOC129994226 (L164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282244	NM_199243.3(GPR150):c.151G>C (p.Val51Leu)	GPR150 (V51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3101479	NM_199243.3(GPR150):c.863G>A (p.Arg288His)	GPR150, LOC123497940 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101478	NM_199243.3(GPR150):c.692T>G (p.Val231Gly)	GPR150, LOC129994227 (V231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101477	NM_199243.3(GPR150):c.622G>T (p.Ala208Ser)	GPR150 (A208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101476	NM_199243.3(GPR150):c.526G>A (p.Ala176Thr)	GPR150, LOC129994226 (A176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101475	NM_199243.3(GPR150):c.46A>G (p.Ile16Val)	GPR150 (I16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101474	NM_199243.3(GPR150):c.442C>T (p.Arg148Trp)	GPR150, LOC129994226 (R148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101473	NM_199243.3(GPR150):c.41C>T (p.Pro14Leu)	GPR150 (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101472	NM_199243.3(GPR150):c.374T>G (p.Leu125Arg)	GPR150, LOC129994226 (L125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101471	NM_199243.3(GPR150):c.151G>A (p.Val51Ile)	GPR150 (V51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101470	NM_199243.3(GPR150):c.1183C>T (p.Arg395Cys)	GPR150 (R395C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101469	NM_199243.3(GPR150):c.1150G>C (p.Glu384Gln)	GPR150, LOC123497940 (E384Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101468	NM_199243.3(GPR150):c.1026G>A (p.Met342Ile)	GPR150, LOC123497940 (M342I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2592241	NM_199243.3(GPR150):c.1082G>A (p.Arg361Gln)	GPR150, LOC123497940 (R361Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552891	NM_199243.3(GPR150):c.1109T>G (p.Leu370Arg)	GPR150, LOC123497940 (L370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551595	NM_199243.3(GPR150):c.994G>A (p.Gly332Ser)	GPR150, LOC123497940 (G332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537123	NM_199243.3(GPR150):c.1111G>T (p.Gly371Cys)	GPR150, LOC123497940 (G371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512397	NM_199243.3(GPR150):c.805G>A (p.Ala269Thr)	GPR150, LOC123497940 (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494730	NM_199243.3(GPR150):c.503G>A (p.Gly168Asp)	GPR150, LOC129994226 (G168D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425958	NC_000005.9:g.(?_94800311)_(96107383_?)del	ARSK, CAST +9 more	Deletion	not provided	GPathogenic
Select item 2402654	NM_199243.3(GPR150):c.1290C>G (p.Cys430Trp)	GPR150 (C430W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382849	NM_199243.3(GPR150):c.584C>T (p.Pro195Leu)	GPR150 (P195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356016	NM_199243.3(GPR150):c.383T>C (p.Leu128Pro)	GPR150, LOC129994226 (L128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347786	NM_199243.3(GPR150):c.1282T>G (p.Cys428Gly)	GPR150 (C428G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326644	NM_199243.3(GPR150):c.485G>A (p.Arg162His)	GPR150, LOC129994226 (R162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311106	NM_199243.3(GPR150):c.488C>A (p.Ala163Asp)	GPR150, LOC129994226 (A163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309538	NM_199243.3(GPR150):c.9T>G (p.Asp3Glu)	GPR150 (D3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308089	NM_199243.3(GPR150):c.1244G>A (p.Gly415Asp)	GPR150 (G415D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300583	NM_199243.3(GPR150):c.98G>A (p.Gly33Glu)	GPR150 (G33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299374	NM_199243.3(GPR150):c.587C>T (p.Pro196Leu)	GPR150 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281909	NM_199243.3(GPR150):c.478C>T (p.Pro160Ser)	GPR150, LOC129994226 (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223668	NM_199243.3(GPR150):c.1169A>C (p.His390Pro)	GPR150 (H390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808134	GRCh37/hg19 5q15(chr5:93524163-95017463)x3	ARSK, FAM81B +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814714	GRCh37/hg19 5q15(chr5:94952542-95069744)x1	RFESD, SPATA9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814713	GRCh37/hg19 5q15(chr5:94715085-95251238)x3	SPATA9, ARSK +7 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563093	GRCh37/hg19 5q15(chr5:94881523-95294150)x3	SPATA9, GLRX +6 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	GUncertain significance
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +42 more	Copy number gain	See cases	GLikely benign
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 64