ClinVar for Gene (Select 56949) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333345	NM_020196.3(XAB2):c.2363C>T (p.Pro788Leu)	XAB2 (P788L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333344	NM_020196.3(XAB2):c.2019C>G (p.Asp673Glu)	XAB2 (D673E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333343	NM_020196.3(XAB2):c.2180G>A (p.Arg727Gln)	XAB2 (R727Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333341	NM_020196.3(XAB2):c.859A>G (p.Met287Val)	XAB2 (M287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333340	NM_020196.3(XAB2):c.391C>T (p.Arg131Cys)	XAB2 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333339	NM_020196.3(XAB2):c.695C>T (p.Pro232Leu)	XAB2 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333338	NM_020196.3(XAB2):c.2371G>A (p.Ala791Thr)	XAB2 (A791T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333337	NM_020196.3(XAB2):c.944C>T (p.Ser315Leu)	XAB2 (S315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333336	NM_020196.3(XAB2):c.2339C>T (p.Ala780Val)	XAB2 (A780V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333335	NM_020196.3(XAB2):c.235C>T (p.Arg79Trp)	XAB2 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333334	NM_020196.3(XAB2):c.716A>G (p.Asn239Ser)	XAB2 (N239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3190941	NM_020196.3(XAB2):c.787G>C (p.Ala263Pro)	XAB2 (A263P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190940	NM_020196.3(XAB2):c.455A>G (p.Tyr152Cys)	XAB2 (Y152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190939	NM_020196.3(XAB2):c.440G>A (p.Arg147Gln)	XAB2 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190938	NM_020196.3(XAB2):c.382C>T (p.His128Tyr)	XAB2 (H128Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190937	NM_020196.3(XAB2):c.2552G>A (p.Ser851Asn)	XAB2 (S851N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190936	NM_020196.3(XAB2):c.2392G>A (p.Val798Met)	XAB2 (V798M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190935	NM_020196.3(XAB2):c.2353C>T (p.Arg785Cys)	XAB2 (R785C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190934	NM_020196.3(XAB2):c.2053C>T (p.Arg685Trp)	XAB2 (R685W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190933	NM_020196.3(XAB2):c.1712G>A (p.Arg571His)	XAB2 (R571H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190931	NM_020196.3(XAB2):c.1576A>G (p.Met526Val)	XAB2 (M526V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190930	NM_020196.3(XAB2):c.1525C>T (p.Arg509Cys)	XAB2 (R509C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190929	NM_020196.3(XAB2):c.1412A>G (p.Asp471Gly)	XAB2 (D471G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190928	NM_020196.3(XAB2):c.1303G>T (p.Val435Leu)	XAB2 (V435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190927	NM_020196.3(XAB2):c.1039A>G (p.Ser347Gly)	XAB2 (S347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624012	NM_020196.3(XAB2):c.1703A>C (p.Tyr568Ser)	XAB2 (Y568S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613001	NM_020196.3(XAB2):c.268C>T (p.Pro90Ser)	XAB2 (P90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604092	NM_020196.3(XAB2):c.2546T>C (p.Phe849Ser)	XAB2 (F849S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551724	NM_020196.3(XAB2):c.1876G>A (p.Ala626Thr)	XAB2 (A626T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541931	NM_020196.3(XAB2):c.2533C>T (p.Pro845Ser)	XAB2 (P845S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536712	NM_020196.3(XAB2):c.2063A>G (p.Tyr688Cys)	XAB2 (Y688C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530550	NM_020196.3(XAB2):c.1985A>T (p.Glu662Val)	XAB2 (E662V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529467	NM_020196.3(XAB2):c.1379C>T (p.Thr460Met)	XAB2 (T460M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519459	NM_020196.3(XAB2):c.2488A>G (p.Met830Val)	XAB2 (M830V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518194	NM_020196.3(XAB2):c.1030C>T (p.Leu344Phe)	XAB2 (L344F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515605	NM_020196.3(XAB2):c.472T>C (p.Ser158Pro)	XAB2 (S158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511985	NM_020196.3(XAB2):c.2426A>G (p.Glu809Gly)	XAB2 (E809G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490913	NM_020196.3(XAB2):c.1489C>A (p.Leu497Ile)	XAB2 (L497I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485151	NM_020196.3(XAB2):c.778T>G (p.Cys260Gly)	XAB2 (C260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471097	NM_020196.3(XAB2):c.2105C>T (p.Ala702Val)	XAB2 (A702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467048	NM_020196.3(XAB2):c.2065A>G (p.Ser689Gly)	XAB2 (S689G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461995	NM_020196.3(XAB2):c.112T>G (p.Trp38Gly)	XAB2 (W38G)	Single nucleotide variant (missense variant)	not specified	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 2412488	NM_020196.3(XAB2):c.1393C>T (p.Arg465Cys)	XAB2 (R465C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402783	NM_020196.3(XAB2):c.2530G>A (p.Val844Met)	XAB2 (V844M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397400	NM_020196.3(XAB2):c.2129T>C (p.Phe710Ser)	XAB2 (F710S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380272	NM_020196.3(XAB2):c.2302G>A (p.Asp768Asn)	XAB2 (D768N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368601	NM_020196.3(XAB2):c.2411G>A (p.Arg804Gln)	XAB2 (R804Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361188	NM_020196.3(XAB2):c.1561G>A (p.Val521Ile)	XAB2 (V521I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360748	NM_020196.3(XAB2):c.944C>G (p.Ser315Trp)	XAB2 (S315W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359589	NM_020196.3(XAB2):c.1069G>A (p.Val357Met)	XAB2 (V357M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358935	NM_020196.3(XAB2):c.1412A>T (p.Asp471Val)	XAB2 (D471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343627	NM_020196.3(XAB2):c.574C>T (p.Arg192Trp)	XAB2 (R192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331409	NM_020196.3(XAB2):c.1549A>G (p.Thr517Ala)	XAB2 (T517A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323413	NM_020196.3(XAB2):c.406G>A (p.Ala136Thr)	XAB2 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321556	NM_020196.3(XAB2):c.2354G>A (p.Arg785His)	XAB2 (R785H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320693	NM_020196.3(XAB2):c.130T>C (p.Phe44Leu)	XAB2 (F44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315805	NM_020196.3(XAB2):c.2470G>T (p.Asp824Tyr)	XAB2 (D824Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292781	NM_020196.3(XAB2):c.2258C>T (p.Thr753Met)	XAB2 (T753M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254903	NM_020196.3(XAB2):c.1382C>T (p.Ala461Val)	XAB2 (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241589	NM_020196.3(XAB2):c.2116A>C (p.Thr706Pro)	XAB2 (T706P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232654	NM_020196.3(XAB2):c.477C>G (p.His159Gln)	XAB2 (H159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224438	NM_020196.3(XAB2):c.838G>A (p.Glu280Lys)	XAB2 (E280K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205236	NM_020196.3(XAB2):c.1711C>T (p.Arg571Cys)	XAB2 (R571C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1217167	NC_000019.10:g.7629463C>T	LOC130063379, PET100 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 930724	NM_020196.3(XAB2):c.2267-1G>T	XAB2	Single nucleotide variant (splice acceptor variant)	not provided	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 683454	NM_001171155.1(PET100):c.-327G>A	XAB2, LOC130063379 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 221540	GRCh37/hg19 19p13.2(chr19:7682488-7698319)x3	CAMSAP3, PCP2 +2 more	Copy number gain	Breast ductal adenocarcinoma	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 60234	GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3	LOC130063389, LOC130063390 +75 more	Copy number gain	See cases	GUncertain significance
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 79