ClinVar for Gene (Select 2844) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282356	NM_005294.3(GPR21):c.437T>A (p.Leu146Gln)	GPR21, RABGAP1 (L146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282355	NM_005294.3(GPR21):c.877G>A (p.Ala293Thr)	GPR21, RABGAP1 (A293T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282354	NM_005294.3(GPR21):c.641T>C (p.Ile214Thr)	GPR21, RABGAP1 (I214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101683	NM_005294.3(GPR21):c.71C>G (p.Thr24Ser)	GPR21, RABGAP1 (T24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101682	NM_005294.3(GPR21):c.505G>T (p.Gly169Cys)	GPR21, RABGAP1 (G169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101681	NM_005294.3(GPR21):c.412A>G (p.Asn138Asp)	GPR21, RABGAP1 (N138D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101680	NM_005294.3(GPR21):c.407C>T (p.Thr136Ile)	GPR21, RABGAP1 (T136I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101679	NM_005294.3(GPR21):c.190A>G (p.Thr64Ala)	GPR21, RABGAP1 (T64A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101678	NM_005294.3(GPR21):c.1025G>T (p.Gly342Val)	GPR21, RABGAP1 (G342V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685362	GRCh37/hg19 9q33.2-33.3(chr9:125788837-125857683)x1	GPR21, RABGAP1	Copy number loss	not provided	GUncertain significance
Select item 2611432	NM_005294.3(GPR21):c.737C>G (p.Pro246Arg)	GPR21, RABGAP1 (P246R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589514	NM_005294.3(GPR21):c.967T>C (p.Cys323Arg)	GPR21, RABGAP1 (C323R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544547	NM_005294.3(GPR21):c.773C>G (p.Thr258Ser)	GPR21, RABGAP1 (T258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537961	NM_005294.3(GPR21):c.410A>G (p.Tyr137Cys)	GPR21, RABGAP1 (Y137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397115	NM_005294.3(GPR21):c.647G>A (p.Arg216His)	GPR21, RABGAP1 (R216H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378932	NM_005294.3(GPR21):c.146T>C (p.Val49Ala)	GPR21, RABGAP1 (V49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284555	NM_005294.3(GPR21):c.841A>C (p.Ser281Arg)	GPR21, RABGAP1 (S281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273751	NM_005294.3(GPR21):c.638A>T (p.Asn213Ile)	GPR21, RABGAP1 (N213I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267197	NM_005294.3(GPR21):c.551C>T (p.Ser184Phe)	GPR21, RABGAP1 (S184F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255241	NM_005294.3(GPR21):c.280C>T (p.Leu94Phe)	GPR21, RABGAP1 (L94F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247541	NM_005294.3(GPR21):c.368T>C (p.Ile123Thr)	GPR21, RABGAP1 (I123T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234092	NM_005294.3(GPR21):c.1000G>A (p.Asp334Asn)	GPR21, RABGAP1 (D334N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224117	NM_005294.3(GPR21):c.679G>A (p.Glu227Lys)	GPR21, RABGAP1 (E227K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 1340430	GRCh37/hg19 9q33.2-33.3(chr9:125782663-125888286)x1	GPR21, RABGAP1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815293	GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1	CRB2, DENND1A +28 more	Copy number loss	not provided	GUncertain significance
Select item 688958	GRCh37/hg19 9q33.2-33.3(chr9:125349988-126462569)x1	CRB2, DENND1A +15 more	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685364	GRCh37/hg19 9q33.2-33.3(chr9:125635604-125892381)x1	GPR21, RABGAP1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 55