57662[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 151458	GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3	CAMSAP3, LOC121627854 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2246977	NM_020902.2(CAMSAP3):c.8A>C (p.Glu3Ala)	CAMSAP3 (E3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490358	NM_020902.2(CAMSAP3):c.158C>T (p.Pro53Leu)	CAMSAP3 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279665	NM_020902.2(CAMSAP3):c.166C>A (p.Leu56Met)	CAMSAP3 (L56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263072	NM_020902.2(CAMSAP3):c.207T>A (p.His69Gln)	CAMSAP3 (H69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539954	NM_020902.2(CAMSAP3):c.374C>A (p.Ala125Asp)	CAMSAP3, LOC121627854 (A125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284332	NM_020902.2(CAMSAP3):c.435G>A (p.Met145Ile)	CAMSAP3 (M145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136895	NM_020902.2(CAMSAP3):c.446C>T (p.Ala149Val)	CAMSAP3 (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321283	NM_020902.2(CAMSAP3):c.451G>A (p.Glu151Lys)	CAMSAP3 (E151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263074	NM_020902.2(CAMSAP3):c.563C>G (p.Ala188Gly)	CAMSAP3 (A188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554041	NM_020902.2(CAMSAP3):c.620C>T (p.Ser207Leu)	CAMSAP3 (S207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263067	NM_020902.2(CAMSAP3):c.650C>A (p.Ala217Glu)	CAMSAP3 (A217E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775470	NM_020902.2(CAMSAP3):c.675G>A (p.Thr225=)	CAMSAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771924	NM_020902.2(CAMSAP3):c.717C>T (p.Ala239=)	CAMSAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2563081	NM_020902.2(CAMSAP3):c.732C>G (p.Cys244Trp)	CAMSAP3 (C244W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206615	NM_020902.2(CAMSAP3):c.839G>A (p.Arg280His)	CAMSAP3 (R280H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768958	NM_020902.2(CAMSAP3):c.882C>T (p.Tyr294=)	CAMSAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2224899	NM_020902.2(CAMSAP3):c.883G>A (p.Val295Ile)	CAMSAP3 (V322I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788466	NM_020902.2(CAMSAP3):c.994+8C>T	CAMSAP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3136872	NM_020902.2(CAMSAP3):c.1007G>A (p.Arg336Gln)	CAMSAP3 (R336Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136873	NM_020902.2(CAMSAP3):c.1018G>T (p.Ala340Ser)	CAMSAP3 (A340S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228485	NM_020902.2(CAMSAP3):c.1031A>C (p.Gln344Pro)	CAMSAP3 (Q371P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136874	NM_020902.2(CAMSAP3):c.1142C>T (p.Pro381Leu)	CAMSAP3 (P381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788013	NM_020902.2(CAMSAP3):c.1143G>A (p.Pro381=)	CAMSAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3136875	NM_020902.2(CAMSAP3):c.1147A>G (p.Met383Val)	CAMSAP3 (M410V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136876	NM_020902.2(CAMSAP3):c.1156A>G (p.Met386Val)	CAMSAP3 (M386V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260073	NM_020902.2(CAMSAP3):c.1195C>T (p.Arg399Cys)	CAMSAP3 (R399C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263071	NM_020902.2(CAMSAP3):c.1201C>A (p.Leu401Ile)	CAMSAP3 (L401I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245257	NM_020902.2(CAMSAP3):c.1288G>C (p.Val430Leu)	CAMSAP3 (V457L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588597	NM_020902.2(CAMSAP3):c.1313C>A (p.Pro438Gln)	CAMSAP3 (P438Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136877	NM_020902.2(CAMSAP3):c.1325C>T (p.Pro442Leu)	CAMSAP3 (P442L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136878	NM_020902.2(CAMSAP3):c.1351C>A (p.Pro451Thr)	CAMSAP3 (P451T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231871	NM_020902.2(CAMSAP3):c.1498T>C (p.Tyr500His)	CAMSAP3 (Y500H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136879	NM_020902.2(CAMSAP3):c.1580C>T (p.Ser527Leu)	CAMSAP3 (S527L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136880	NM_020902.2(CAMSAP3):c.1754C>T (p.Ser585Phe)	CAMSAP3 (S585F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489492	NM_020902.2(CAMSAP3):c.1760C>T (p.Thr587Met)	CAMSAP3 (T587M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340440	NM_020902.2(CAMSAP3):c.1772C>A (p.Ala591Asp)	CAMSAP3 (A618D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240918	NM_020902.2(CAMSAP3):c.1802G>A (p.Ser601Asn)	CAMSAP3 (S628N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263076	NM_020902.2(CAMSAP3):c.1816C>T (p.Arg606Trp)	CAMSAP3 (R633W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263070	NM_020902.2(CAMSAP3):c.1870A>G (p.Ile624Val)	CAMSAP3 (I651V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489355	NM_020902.2(CAMSAP3):c.1886G>A (p.Arg629His)	CAMSAP3 (R629H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649167	NM_020902.2(CAMSAP3):c.1975G>C (p.Gly659Arg)	CAMSAP3 (G659R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2514643	NM_020902.2(CAMSAP3):c.2038A>C (p.Lys680Gln)	CAMSAP3 (K680Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136881	NM_020902.2(CAMSAP3):c.2044G>C (p.Val682Leu)	CAMSAP3 (V682L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341888	NM_020902.2(CAMSAP3):c.2050T>A (p.Phe684Ile)	CAMSAP3 (F711I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341505	NM_020902.2(CAMSAP3):c.2051T>C (p.Phe684Ser)	CAMSAP3 (F711S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455772	NM_020902.2(CAMSAP3):c.2057C>T (p.Pro686Leu)	CAMSAP3 (P686L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649168	NM_020902.2(CAMSAP3):c.2061C>G (p.Asp687Glu)	CAMSAP3 (D687E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3263068	NM_020902.2(CAMSAP3):c.2062C>A (p.Leu688Met)	CAMSAP3 (L688M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263077	NM_020902.2(CAMSAP3):c.2075C>T (p.Pro692Leu)	CAMSAP3 (P692L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263066	NM_020902.2(CAMSAP3):c.2105C>T (p.Ala702Val)	CAMSAP3 (A729V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326765	NM_020902.2(CAMSAP3):c.2200C>T (p.Pro734Ser)	CAMSAP3 (P734S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562143	NM_020902.2(CAMSAP3):c.2203G>A (p.Gly735Arg)	CAMSAP3 (G735R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519166	NM_020902.2(CAMSAP3):c.2249C>T (p.Thr750Met)	CAMSAP3 (T777M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232576	NM_020902.2(CAMSAP3):c.2285G>A (p.Arg762Gln)	CAMSAP3 (R762Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530474	NM_020902.2(CAMSAP3):c.2303G>A (p.Arg768His)	CAMSAP3 (R768H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136882	NM_020902.2(CAMSAP3):c.2360C>T (p.Ala787Val)	CAMSAP3 (A787V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560277	NM_020902.2(CAMSAP3):c.2382G>T (p.Leu794Phe)	CAMSAP3 (L794F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560278	NM_020902.2(CAMSAP3):c.2383A>T (p.Thr795Ser)	CAMSAP3 (T795S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239922	NM_020902.2(CAMSAP3):c.2441C>T (p.Ser814Leu)	CAMSAP3 (S841L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136883	NM_020902.2(CAMSAP3):c.2513C>A (p.Ala838Asp)	CAMSAP3 (A838D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136884	NM_020902.2(CAMSAP3):c.2519G>A (p.Arg840Gln)	CAMSAP3 (R840Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469526	NM_020902.2(CAMSAP3):c.2519G>T (p.Arg840Leu)	CAMSAP3 (R840L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606846	NM_020902.2(CAMSAP3):c.2692G>C (p.Glu898Gln)	CAMSAP3 (E898Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710674	NM_020902.2(CAMSAP3):c.2792G>A (p.Arg931Gln)	CAMSAP3 (R931Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2287651	NM_020902.2(CAMSAP3):c.2831C>T (p.Pro944Leu)	CAMSAP3 (P944L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136885	NM_020902.2(CAMSAP3):c.2840C>T (p.Ala947Val)	CAMSAP3 (A947V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263075	NM_020902.2(CAMSAP3):c.2857G>C (p.Val953Leu)	CAMSAP3 (V980L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312325	NM_020902.2(CAMSAP3):c.2863A>G (p.Met955Val)	CAMSAP3 (M982V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136886	NM_020902.2(CAMSAP3):c.2867C>T (p.Ala956Val)	CAMSAP3 (A956V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400030	NM_020902.2(CAMSAP3):c.2947G>A (p.Glu983Lys)	CAMSAP3 (E1010K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235573	NM_020902.2(CAMSAP3):c.2950C>T (p.Arg984Cys)	CAMSAP3 (R984C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288262	NM_020902.2(CAMSAP3):c.2975A>G (p.Asp992Gly)	CAMSAP3 (D1019G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338533	NM_020902.2(CAMSAP3):c.3089G>T (p.Arg1030Leu)	CAMSAP3 (R1030L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410743	NM_020902.2(CAMSAP3):c.3101G>A (p.Arg1034His)	CAMSAP3 (R1034H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136888	NM_020902.2(CAMSAP3):c.3182A>G (p.Asn1061Ser)	CAMSAP3 (N1061S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395674	NM_020902.2(CAMSAP3):c.3190G>A (p.Gly1064Arg)	CAMSAP3 (G1064R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136889	NM_020902.2(CAMSAP3):c.3224C>T (p.Pro1075Leu)	CAMSAP3 (P1075L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681697	NM_020902.2(CAMSAP3):c.3252G>A (p.Leu1084=)	CAMSAP3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3263073	NM_020902.2(CAMSAP3):c.3262C>T (p.Arg1088Cys)	CAMSAP3 (R1088C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136890	NM_020902.2(CAMSAP3):c.3263G>A (p.Arg1088His)	CAMSAP3 (R1115H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136891	NM_020902.2(CAMSAP3):c.3265G>C (p.Glu1089Gln)	CAMSAP3 (E1089Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493760	NM_020902.2(CAMSAP3):c.3293C>T (p.Ala1098Val)	CAMSAP3 (A1125V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225246	NM_020902.2(CAMSAP3):c.3301C>T (p.Pro1101Ser)	CAMSAP3 (P1101S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136893	NM_020902.2(CAMSAP3):c.3418G>A (p.Glu1140Lys)	CAMSAP3 (E1140K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136894	NM_020902.2(CAMSAP3):c.3524T>C (p.Leu1175Pro)	CAMSAP3 (L1175P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323798	NM_020902.2(CAMSAP3):c.3548C>T (p.Ser1183Leu)	CAMSAP3 (S1183L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263492	NM_020902.2(CAMSAP3):c.3556G>A (p.Ala1186Thr)	CAMSAP3 (A1213T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386837	NM_020902.2(CAMSAP3):c.3733G>A (p.Gly1245Ser)	CAMSAP3 (G1272S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3248423	NC_000019.9:g.(?_7504827)_(7712696_?)del	ARHGEF18, CAMSAP3 +9 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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