ClinVar for Gene (Select 9649) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312638	NM_014636.3(RALGPS1):c.890C>T (p.Ser297Phe)	RALGPS1 (S267F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312637	NM_014636.3(RALGPS1):c.1004C>G (p.Pro335Arg)	RALGPS1 (P335R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294177	NM_012098.3(ANGPTL2):c.188A>T (p.Gln63Leu)	ANGPTL2, RALGPS1 (Q63L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294166	NM_012098.3(ANGPTL2):c.137G>A (p.Arg46Gln)	ANGPTL2, RALGPS1 (R46Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294155	NM_012098.3(ANGPTL2):c.256A>G (p.Lys86Glu)	ANGPTL2, RALGPS1 (K86E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294144	NM_012098.3(ANGPTL2):c.757C>A (p.Pro253Thr)	ANGPTL2, RALGPS1 (P253T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294133	NM_012098.3(ANGPTL2):c.190C>T (p.Arg64Trp)	ANGPTL2, RALGPS1 (R64W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151326	NM_014636.3(RALGPS1):c.875C>T (p.Ser292Phe)	RALGPS1 (S262F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151324	NM_014636.3(RALGPS1):c.1391G>A (p.Gly464Glu)	RALGPS1 (G421E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151323	NM_014636.3(RALGPS1):c.1154C>T (p.Ala385Val)	RALGPS1 (A385V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151322	NM_014636.3(RALGPS1):c.101A>G (p.Tyr34Cys)	RALGPS1 (Y34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151321	NM_014636.3(RALGPS1):c.1000G>A (p.Val334Ile)	RALGPS1 (V304I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118586	NM_012098.3(ANGPTL2):c.85G>A (p.Gly29Ser)	ANGPTL2, RALGPS1 (G29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118578	NM_012098.3(ANGPTL2):c.7C>T (p.Pro3Ser)	ANGPTL2, RALGPS1 (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118567	NM_012098.3(ANGPTL2):c.664C>T (p.Pro222Ser)	ANGPTL2, RALGPS1 (P222S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118547	NM_012098.3(ANGPTL2):c.309C>G (p.Ile103Met)	ANGPTL2, RALGPS1 (I103M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118544	NM_012098.3(ANGPTL2):c.254A>C (p.His85Pro)	ANGPTL2, RALGPS1 (H85P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118521	NM_012098.3(ANGPTL2):c.1237G>A (p.Gly413Ser)	ANGPTL2, RALGPS1 (G413S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118513	NM_012098.3(ANGPTL2):c.101C>T (p.Ser34Leu)	ANGPTL2, RALGPS1 (S34L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2603667	NM_012098.3(ANGPTL2):c.578A>T (p.Gln193Leu)	ANGPTL2, RALGPS1 (Q193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600759	NM_012098.3(ANGPTL2):c.1378A>G (p.Ser460Gly)	ANGPTL2, RALGPS1 (S460G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600410	NM_012098.3(ANGPTL2):c.314C>T (p.Thr105Met)	ANGPTL2, RALGPS1 (T105M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593880	NM_014636.3(RALGPS1):c.928G>A (p.Gly310Ser)	RALGPS1 (G310S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542990	NM_012098.3(ANGPTL2):c.1267C>T (p.His423Tyr)	ANGPTL2, RALGPS1 (H423Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531312	NM_014636.3(RALGPS1):c.1426C>T (p.Arg476Trp)	RALGPS1 (R434W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526446	NM_012098.3(ANGPTL2):c.775C>T (p.Pro259Ser)	ANGPTL2, RALGPS1 (P259S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472046	NM_012098.3(ANGPTL2):c.211G>A (p.Val71Ile)	ANGPTL2, RALGPS1 (V71I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468391	NM_012098.3(ANGPTL2):c.191G>A (p.Arg64Gln)	ANGPTL2, RALGPS1 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467338	NM_014636.3(RALGPS1):c.862C>T (p.Pro288Ser)	RALGPS1 (P258S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464155	NM_014636.3(RALGPS1):c.1639C>T (p.Pro547Ser)	RALGPS1 (P497S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463416	NM_014636.3(RALGPS1):c.947G>A (p.Arg316Gln)	RALGPS1 (R286Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410992	NM_012098.3(ANGPTL2):c.887C>T (p.Pro296Leu)	ANGPTL2, RALGPS1 (P296L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390809	NM_014636.3(RALGPS1):c.124G>A (p.Val42Ile)	RALGPS1 (V42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387962	NM_014636.3(RALGPS1):c.989C>T (p.Pro330Leu)	RALGPS1 (P300L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387629	NM_012098.3(ANGPTL2):c.193G>A (p.Val65Ile)	ANGPTL2, RALGPS1 (V65I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384317	NM_012098.3(ANGPTL2):c.1469A>G (p.Asn490Ser)	ANGPTL2, RALGPS1 (N490S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371205	NM_014636.3(RALGPS1):c.271G>A (p.Val91Ile)	RALGPS1 (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365657	NM_012098.3(ANGPTL2):c.803C>T (p.Thr268Ile)	ANGPTL2, RALGPS1 (T268I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363141	NM_014636.3(RALGPS1):c.351A>G (p.Ile117Met)	RALGPS1 (I117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331897	NM_012098.3(ANGPTL2):c.76G>A (p.Gly26Ser)	ANGPTL2, RALGPS1 (G26S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320513	NM_012098.3(ANGPTL2):c.569C>G (p.Ala190Gly)	ANGPTL2, RALGPS1 (A190G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302110	NM_012098.3(ANGPTL2):c.176T>C (p.Ile59Thr)	ANGPTL2, RALGPS1 (I59T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300430	NM_014636.3(RALGPS1):c.1513G>A (p.Glu505Lys)	RALGPS1 (E505K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296189	NM_014636.3(RALGPS1):c.677A>G (p.Asn226Ser)	RALGPS1 (N226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293752	NM_014636.3(RALGPS1):c.1421C>T (p.Ser474Phe)	RALGPS1 (S501F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289567	NM_012098.3(ANGPTL2):c.445C>T (p.Arg149Trp)	ANGPTL2, RALGPS1 (R149W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281416	NM_014636.3(RALGPS1):c.931T>G (p.Ser311Ala)	RALGPS1 (S311A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276831	NM_012098.3(ANGPTL2):c.1375C>T (p.Arg459Trp)	ANGPTL2, RALGPS1 (R459W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256111	NM_012098.3(ANGPTL2):c.343G>A (p.Gly115Ser)	ANGPTL2, RALGPS1 (G115S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255739	NM_012098.3(ANGPTL2):c.226C>G (p.Pro76Ala)	ANGPTL2, RALGPS1 (P76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246682	NM_012098.3(ANGPTL2):c.661C>T (p.Pro221Ser)	ANGPTL2, RALGPS1 (P221S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234013	NM_014636.3(RALGPS1):c.1182T>G (p.Asn394Lys)	RALGPS1 (N394K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230029	NM_012098.3(ANGPTL2):c.901C>T (p.Arg301Cys)	ANGPTL2, RALGPS1 (R301C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222447	NM_012098.3(ANGPTL2):c.1195C>T (p.Arg399Cys)	ANGPTL2, RALGPS1 (R399C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	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 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, ANGPTL2 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 688971	GRCh37/hg19 9q33.3(chr9:129942532-130125184)x3	GARNL3, RALGPS1	Copy number gain	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 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 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 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 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	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 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 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 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	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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Links from Gene

Items: 87