29020[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 3087080	NM_001364929.1(ECPAS):c.5507A>G (p.Glu1836Gly)	ECPAS (E1836G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598070	NM_001364929.1(ECPAS):c.5486C>T (p.Ala1829Val)	ECPAS (A1829V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087079	NM_001364929.1(ECPAS):c.5446A>T (p.Met1816Leu)	ECPAS (M1822L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476273	NM_001364929.1(ECPAS):c.5318C>T (p.Thr1773Ile)	ECPAS (T1779I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087078	NM_001364929.1(ECPAS):c.5315A>G (p.Lys1772Arg)	ECPAS (K1772R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087077	NM_001364929.1(ECPAS):c.5233G>C (p.Glu1745Gln)	ECPAS (E1745Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087076	NM_001364929.1(ECPAS):c.5152C>T (p.Arg1718Trp)	ECPAS (R1718W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274427	NM_001364929.1(ECPAS):c.5102C>T (p.Ala1701Val)	ECPAS (A1701V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526973	NM_001364929.1(ECPAS):c.5022G>C (p.Glu1674Asp)	ECPAS (E1674D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087075	NM_001364929.1(ECPAS):c.4999C>T (p.Arg1667Trp)	ECPAS (R1667W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087074	NM_001364929.1(ECPAS):c.4993G>A (p.Gly1665Arg)	ECPAS (G1671R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274439	NM_001364929.1(ECPAS):c.4957A>G (p.Ile1653Val)	ECPAS (I1653V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468550	NM_001364929.1(ECPAS):c.4944C>G (p.Phe1648Leu)	ECPAS (F1648L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545211	NM_001364929.1(ECPAS):c.4862A>G (p.Glu1621Gly)	ECPAS (E1627G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087071	NM_001364929.1(ECPAS):c.4808A>G (p.Asn1603Ser)	ECPAS (N1609S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274429	NM_001364929.1(ECPAS):c.4696G>A (p.Ala1566Thr)	ECPAS (A1572T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087069	NM_001364929.1(ECPAS):c.4679T>C (p.Leu1560Pro)	ECPAS (L1560P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274430	NM_001364929.1(ECPAS):c.4633A>G (p.Met1545Val)	ECPAS (M1545V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087068	NM_001364929.1(ECPAS):c.4601C>T (p.Ser1534Phe)	ECPAS (S1540F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528168	NM_001364929.1(ECPAS):c.4502C>A (p.Thr1501Asn)	ECPAS (T1501N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087066	NM_001364929.1(ECPAS):c.4477G>A (p.Glu1493Lys)	ECPAS (E1493K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274444	NM_001364929.1(ECPAS):c.4415C>A (p.Ala1472Glu)	ECPAS (A1478E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274435	NM_001364929.1(ECPAS):c.4378A>G (p.Ile1460Val)	ECPAS (I1460V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087065	NM_001364929.1(ECPAS):c.4360G>A (p.Ala1454Thr)	ECPAS (A1460T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087064	NM_001364929.1(ECPAS):c.4352C>A (p.Thr1451Asn)	ECPAS (T1451N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596226	NM_001364929.1(ECPAS):c.4352C>T (p.Thr1451Ile)	ECPAS (T1451I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274426	NM_001364929.1(ECPAS):c.4348A>G (p.Lys1450Glu)	ECPAS (K1450E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087063	NM_001364929.1(ECPAS):c.4268G>A (p.Arg1423Gln)	ECPAS (R1423Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087061	NM_001364929.1(ECPAS):c.4193C>T (p.Ala1398Val)	ECPAS (A1404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087060	NM_001364929.1(ECPAS):c.4159G>A (p.Asp1387Asn)	ECPAS (D1387N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087058	NM_001364929.1(ECPAS):c.3938C>T (p.Ala1313Val)	ECPAS (A1319V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087057	NM_001364929.1(ECPAS):c.3860C>T (p.Ala1287Val)	ECPAS (A1293V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087056	NM_001364929.1(ECPAS):c.3785C>T (p.Thr1262Met)	ECPAS (T1262M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087055	NM_001364929.1(ECPAS):c.3776G>A (p.Ser1259Asn)	ECPAS (S1265N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548537	NM_001364929.1(ECPAS):c.3773T>G (p.Met1258Arg)	ECPAS (M1258R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536963	NM_001364929.1(ECPAS):c.3764A>C (p.Lys1255Thr)	ECPAS (K1255T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554076	NM_001364929.1(ECPAS):c.3694A>C (p.Met1232Leu)	ECPAS (M1238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087054	NM_001364929.1(ECPAS):c.3614G>A (p.Arg1205Lys)	ECPAS (R1205K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087052	NM_001364929.1(ECPAS):c.3587T>G (p.Leu1196Arg)	ECPAS (L1196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521091	NM_001364929.1(ECPAS):c.3283G>T (p.Ala1095Ser)	ECPAS (A1101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087048	NM_001364929.1(ECPAS):c.3262A>G (p.Met1088Val)	ECPAS (M1088V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087047	NM_001364929.1(ECPAS):c.3176C>T (p.Thr1059Ile)	ECPAS (T1059I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087045	NM_001364929.1(ECPAS):c.3124G>T (p.Val1042Leu)	ECPAS (V1042L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087044	NM_001364929.1(ECPAS):c.3101A>C (p.His1034Pro)	ECPAS (H1040P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087043	NM_001364929.1(ECPAS):c.3080T>C (p.Met1027Thr)	ECPAS (M1027T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274445	NM_001364929.1(ECPAS):c.3079A>C (p.Met1027Leu)	ECPAS (M1027L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087041	NM_001364929.1(ECPAS):c.2854G>A (p.Val952Met)	ECPAS (V958M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516507	NM_001364929.1(ECPAS):c.2852A>G (p.His951Arg)	ECPAS (H957R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087040	NM_001364929.1(ECPAS):c.2839A>G (p.Ser947Gly)	ECPAS (S947G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087039	NM_001364929.1(ECPAS):c.2831A>G (p.His944Arg)	ECPAS (H944R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087038	NM_001364929.1(ECPAS):c.2749A>G (p.Thr917Ala)	ECPAS (T917A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087037	NM_001364929.1(ECPAS):c.2738C>G (p.Ala913Gly)	ECPAS (A913G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274438	NM_001364929.1(ECPAS):c.2653G>A (p.Ala885Thr)	ECPAS (A891T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591984	NM_001364929.1(ECPAS):c.2629C>G (p.Gln877Glu)	ECPAS (Q883E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598977	NM_001364929.1(ECPAS):c.2587C>A (p.Pro863Thr)	ECPAS (P869T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087036	NM_001364929.1(ECPAS):c.2558A>G (p.Glu853Gly)	ECPAS (E853G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087034	NM_001364929.1(ECPAS):c.2551A>G (p.Met851Val)	ECPAS (M851V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274440	NM_001364929.1(ECPAS):c.2528C>T (p.Pro843Leu)	ECPAS (P849L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274437	NM_001364929.1(ECPAS):c.2456C>T (p.Pro819Leu)	ECPAS (P819L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087032	NM_001364929.1(ECPAS):c.2455C>G (p.Pro819Ala)	ECPAS (P825A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274443	NM_001364929.1(ECPAS):c.2395A>G (p.Thr799Ala)	ECPAS (T799A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087031	NM_001364929.1(ECPAS):c.2365A>G (p.Thr789Ala)	ECPAS (T789A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087030	NM_001364929.1(ECPAS):c.2311C>G (p.Leu771Val)	ECPAS (L777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087029	NM_001364929.1(ECPAS):c.2294T>C (p.Met765Thr)	ECPAS (M765T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515080	NM_001364929.1(ECPAS):c.2258C>T (p.Thr753Met)	ECPAS (T753M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087027	NM_001364929.1(ECPAS):c.2216G>T (p.Ser739Ile)	ECPAS (S739I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087025	NM_001364929.1(ECPAS):c.2203A>G (p.Lys735Glu)	ECPAS (K735E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274424	NM_001364929.1(ECPAS):c.2095A>G (p.Ser699Gly)	ECPAS (S699G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087023	NM_001364929.1(ECPAS):c.2045C>T (p.Ala682Val)	ECPAS (A688V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621060	NM_001364929.1(ECPAS):c.1984G>A (p.Gly662Arg)	ECPAS (G662R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087022	NM_001364929.1(ECPAS):c.1952T>C (p.Ile651Thr)	ECPAS (I651T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087021	NM_001364929.1(ECPAS):c.1850C>A (p.Ala617Asp)	ECPAS (A617D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474471	NM_001364929.1(ECPAS):c.1814C>T (p.Pro605Leu)	ECPAS (P605L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659427	NM_001364929.1(ECPAS):c.1794G>A (p.Ala598=)	ECPAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521192	NM_001364929.1(ECPAS):c.1784T>C (p.Met595Thr)	ECPAS (M595T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087020	NM_001364929.1(ECPAS):c.1717A>G (p.Met573Val)	ECPAS (M573V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087019	NM_001364929.1(ECPAS):c.1561C>T (p.Arg521Cys)	ECPAS (R527C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495247	NM_001364929.1(ECPAS):c.1483G>T (p.Val495Leu)	ECPAS (V495L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087017	NM_001364929.1(ECPAS):c.1472G>A (p.Arg491Gln)	ECPAS (R497Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543668	NM_001364929.1(ECPAS):c.1388C>T (p.Ala463Val)	ECPAS (A463V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087013	NM_001364929.1(ECPAS):c.1357A>G (p.Ile453Val)	ECPAS (I453V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597250	NM_001364929.1(ECPAS):c.1330A>C (p.Lys444Gln)	ECPAS (K444Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087012	NM_001364929.1(ECPAS):c.1291G>A (p.Asp431Asn)	ECPAS (D431N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274431	NM_001364929.1(ECPAS):c.1210A>C (p.Lys404Gln)	ECPAS (K410Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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