ClinVar for Gene (Select 55833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3185477	NM_001370062.2(UBAP2):c.983C>T (p.Ser328Leu)	UBAP2 (S237L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185476	NM_001370062.2(UBAP2):c.925A>C (p.Asn309His)	UBAP2 (N309H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185475	NM_001370062.2(UBAP2):c.923C>T (p.Ala308Val)	UBAP2 (A217V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3185474	NM_001370062.2(UBAP2):c.913G>A (p.Ala305Thr)	UBAP2 (A305T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185473	NM_001370062.2(UBAP2):c.874C>G (p.Leu292Val)	UBAP2 (L201V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185472	NM_001370062.2(UBAP2):c.683T>G (p.Leu228Arg)	UBAP2 (L228R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185471	NM_001370062.2(UBAP2):c.620T>C (p.Val207Ala)	UBAP2 (V169A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185470	NM_001370062.2(UBAP2):c.527G>T (p.Gly176Val)	UBAP2 (G176V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185469	NM_001370062.2(UBAP2):c.512G>A (p.Arg171Gln)	UBAP2 (R133Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185468	NM_001370062.2(UBAP2):c.496C>T (p.Arg166Cys)	UBAP2 (R128C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185467	NM_001370062.2(UBAP2):c.388C>T (p.Arg130Cys)	UBAP2 (R92C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185466	NM_001370062.2(UBAP2):c.385A>C (p.Ser129Arg)	UBAP2 (S129R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185465	NM_001370062.2(UBAP2):c.3061A>G (p.Asn1021Asp)	UBAP2 (N1021D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185464	NM_001370062.2(UBAP2):c.2780A>G (p.Tyr927Cys)	UBAP2 (Y889C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185463	NM_001370062.2(UBAP2):c.2761A>T (p.Met921Leu)	UBAP2 (M883L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185462	NM_001370062.2(UBAP2):c.2647C>T (p.Pro883Ser)	UBAP2 (P122S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185461	NM_001370062.2(UBAP2):c.2543C>T (p.Thr848Ile)	UBAP2 (T810I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185460	NM_001370062.2(UBAP2):c.2323G>A (p.Ala775Thr)	UBAP2 (A14T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3185459	NM_001370062.2(UBAP2):c.2252C>T (p.Ser751Phe)	UBAP2 (S660F +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3185458	NM_001370062.2(UBAP2):c.1931A>G (p.Asn644Ser)	UBAP2 (N606S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185457	NM_001370062.2(UBAP2):c.1703C>T (p.Ser568Leu)	UBAP2 (S515L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185456	NM_001370062.2(UBAP2):c.1460C>T (p.Thr487Ile)	UBAP2 (T434I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185455	NM_001370062.2(UBAP2):c.1243T>G (p.Ser415Ala)	UBAP2 (S377A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185454	NM_001370062.2(UBAP2):c.1205C>G (p.Pro402Arg)	UBAP2 (P349R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2619392	NM_001370062.2(UBAP2):c.1085A>T (p.Glu362Val)	UBAP2 (E309V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618821	NM_001370062.2(UBAP2):c.410G>A (p.Arg137Gln)	UBAP2 (R137Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618193	NM_001370062.2(UBAP2):c.2440G>A (p.Gly814Arg)	UBAP2 (G723R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596769	NM_001370062.2(UBAP2):c.3076T>C (p.Phe1026Leu)	UBAP2 (F1026L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561652	NM_001370062.2(UBAP2):c.2557C>G (p.Arg853Gly)	UBAP2 (R762G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557597	NM_001370062.2(UBAP2):c.1417A>C (p.Ser473Arg)	UBAP2 (S420R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555379	NM_001370062.2(UBAP2):c.1748G>C (p.Ser583Thr)	UBAP2 (S530T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540994	NM_001370062.2(UBAP2):c.301A>G (p.Thr101Ala)	UBAP2 (T63A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515834	NM_001370062.2(UBAP2):c.409C>T (p.Arg137Trp)	UBAP2 (R137W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512538	NM_001370062.2(UBAP2):c.2462C>T (p.Pro821Leu)	UBAP2 (P730L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509777	NM_001370062.2(UBAP2):c.1411G>A (p.Gly471Arg)	UBAP2 (G418R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2508686	NM_001370062.2(UBAP2):c.2939C>T (p.Ser980Phe)	UBAP2 (S219F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489074	NM_001370062.2(UBAP2):c.3062A>G (p.Asn1021Ser)	UBAP2 (N1021S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480610	NM_001370062.2(UBAP2):c.2867G>C (p.Ser956Thr)	UBAP2 (S918T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479507	NM_001370062.2(UBAP2):c.1820C>G (p.Ser607Cys)	UBAP2 (S607C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473224	NM_001370062.2(UBAP2):c.1975A>G (p.Lys659Glu)	UBAP2 (K606E +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2468280	NM_001370062.2(UBAP2):c.394C>T (p.Arg132Cys)	UBAP2 (R132C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467416	NM_001370062.2(UBAP2):c.2431G>A (p.Val811Ile)	UBAP2 (V720I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454211	NM_001370062.2(UBAP2):c.2611C>T (p.Arg871Cys)	UBAP2 (R780C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ARID3C, CCL19 +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2411806	NM_001370062.2(UBAP2):c.3158C>T (p.Ser1053Leu)	UBAP2 (S1000L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411737	NM_001370062.2(UBAP2):c.3023G>A (p.Ser1008Asn)	UBAP2 (S917N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398907	NM_001370062.2(UBAP2):c.2615G>A (p.Gly872Glu)	UBAP2 (G819E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396971	NM_001370062.2(UBAP2):c.2165C>A (p.Thr722Lys)	UBAP2 (T722K +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2383710	NM_001370062.2(UBAP2):c.3077T>G (p.Phe1026Cys)	UBAP2 (F1026C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381847	NM_001370062.2(UBAP2):c.382T>G (p.Ser128Ala)	UBAP2 (S128A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380518	NM_001370062.2(UBAP2):c.2651C>T (p.Ala884Val)	UBAP2 (A123V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360451	NM_001370062.2(UBAP2):c.3280C>T (p.Arg1094Cys)	UBAP2 (R333C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357408	NM_001370062.2(UBAP2):c.2183G>A (p.Ser728Asn)	UBAP2 (S690N +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2355811	NM_001370062.2(UBAP2):c.592G>A (p.Asp198Asn)	UBAP2 (D160N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350136	NM_001370062.2(UBAP2):c.48A>C (p.Lys16Asn)	UBAP2 (K16N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345105	NM_001370062.2(UBAP2):c.1412G>A (p.Gly471Glu)	UBAP2 (G471E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332626	NM_001370062.2(UBAP2):c.1229T>C (p.Leu410Pro)	UBAP2 (L372P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328277	NM_001370062.2(UBAP2):c.577A>G (p.Thr193Ala)	UBAP2 (T155A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321630	NM_001370062.2(UBAP2):c.1220C>A (p.Ser407Tyr)	UBAP2 (S354Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315186	NM_001370062.2(UBAP2):c.698A>T (p.His233Leu)	UBAP2 (H233L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303307	NM_001370062.2(UBAP2):c.1357C>T (p.Pro453Ser)	UBAP2 (P400S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298890	NM_001370062.2(UBAP2):c.776C>T (p.Thr259Ile)	UBAP2 (T206I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2294988	NM_001370062.2(UBAP2):c.365A>C (p.Lys122Thr)	UBAP2 (K122T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285923	NM_001370062.2(UBAP2):c.620T>G (p.Val207Gly)	UBAP2 (V169G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2269679	NM_001370062.2(UBAP2):c.1819T>A (p.Ser607Thr)	UBAP2 (S607T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266851	NM_001370062.2(UBAP2):c.1232A>G (p.Lys411Arg)	UBAP2 (K358R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266512	NM_001370062.2(UBAP2):c.2159C>T (p.Ser720Leu)	UBAP2 (S667L +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2264581	NM_001370062.2(UBAP2):c.2987G>A (p.Gly996Asp)	UBAP2 (G235D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258170	NM_001370062.2(UBAP2):c.1928T>C (p.Met643Thr)	UBAP2 (M552T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2256615	NM_001370062.2(UBAP2):c.483C>G (p.Asp161Glu)	UBAP2 (D123E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256064	NM_001370062.2(UBAP2):c.1144G>A (p.Ala382Thr)	UBAP2 (A344T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249673	NM_001370062.2(UBAP2):c.898G>C (p.Val300Leu)	UBAP2 (V247L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228161	NM_001370062.2(UBAP2):c.1472T>C (p.Ile491Thr)	UBAP2 (I453T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226467	NM_001370062.2(UBAP2):c.847C>A (p.His283Asn)	UBAP2 (H283N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225433	NM_001370062.2(UBAP2):c.1443G>T (p.Leu481Phe)	UBAP2 (L443F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 776418	NM_001370062.2(UBAP2):c.2286G>C (p.Met762Ile)	UBAP2 (M1I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 746322	NM_001370062.2(UBAP2):c.479T>C (p.Val160Ala)	UBAP2 (V122A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 733648	NM_001370062.2(UBAP2):c.1458G>A (p.Thr486=)	UBAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715237	NM_001370062.2(UBAP2):c.2464-6A>G	UBAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713274	NM_001370062.2(UBAP2):c.1999C>A (p.Leu667Ile)	UBAP2 (L576I +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	IFNA1, IFNA10 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	ACER2, ACO1 +195 more	Copy number gain	not provided	GPathogenic

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