ClinVar for Gene (Select 390874) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302319	NM_001080488.2(ONECUT3):c.454C>T (p.Pro152Ser)	ONECUT3 (P152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302318	NM_001080488.2(ONECUT3):c.188G>A (p.Gly63Glu)	ONECUT3 (G63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302317	NM_001080488.2(ONECUT3):c.28G>A (p.Gly10Ser)	ONECUT3 (G10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302316	NM_001080488.2(ONECUT3):c.884C>G (p.Ala295Gly)	ONECUT3 (A295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204341	NM_001080488.2(ONECUT3):c.932G>A (p.Gly311Asp)	ONECUT3 (G311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204340	NM_001080488.2(ONECUT3):c.889G>A (p.Gly297Arg)	ONECUT3 (G297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204338	NM_001080488.2(ONECUT3):c.535G>T (p.Ala179Ser)	ONECUT3 (A179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204337	NM_001080488.2(ONECUT3):c.466C>G (p.Pro156Ala)	ONECUT3 (P156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204336	NM_001080488.2(ONECUT3):c.406G>A (p.Ala136Thr)	ONECUT3 (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204335	NM_001080488.2(ONECUT3):c.1462A>C (p.Thr488Pro)	ONECUT3 (T488P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204334	NM_001080488.2(ONECUT3):c.1279C>T (p.Arg427Cys)	ONECUT3 (R427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204333	NM_001080488.2(ONECUT3):c.1222A>C (p.Lys408Gln)	ONECUT3 (K408Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204332	NM_001080488.2(ONECUT3):c.106C>A (p.Arg36Ser)	ONECUT3 (R36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062376	GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3	ABHD17A, ADAT3 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2599318	NM_001080488.2(ONECUT3):c.452C>A (p.Pro151Gln)	ONECUT3 (P151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598545	NM_001080488.2(ONECUT3):c.745G>A (p.Ala249Thr)	ONECUT3 (A249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596796	NM_001080488.2(ONECUT3):c.100C>A (p.Gln34Lys)	ONECUT3 (Q34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596457	NM_001080488.2(ONECUT3):c.541G>A (p.Val181Met)	ONECUT3 (V181M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569438	NM_001080488.2(ONECUT3):c.937A>G (p.Ser313Gly)	ONECUT3 (S313G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569437	NM_001080488.2(ONECUT3):c.899G>C (p.Gly300Ala)	ONECUT3 (G300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569436	NM_001080488.2(ONECUT3):c.76G>A (p.Gly26Ser)	ONECUT3 (G26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547262	NM_001080488.2(ONECUT3):c.854C>A (p.Ala285Glu)	ONECUT3 (A285E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545570	NM_001080488.2(ONECUT3):c.85C>A (p.Arg29Ser)	ONECUT3 (R29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534372	NM_001080488.2(ONECUT3):c.904G>A (p.Gly302Ser)	ONECUT3 (G302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534371	NM_001080488.2(ONECUT3):c.838G>A (p.Ala280Thr)	ONECUT3 (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534370	NM_001080488.2(ONECUT3):c.829A>G (p.Ser277Gly)	ONECUT3 (S277G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534369	NM_001080488.2(ONECUT3):c.820G>A (p.Gly274Arg)	ONECUT3 (G274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534368	NM_001080488.2(ONECUT3):c.817G>A (p.Gly273Ser)	ONECUT3 (G273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534367	NM_001080488.2(ONECUT3):c.37A>G (p.Ser13Gly)	ONECUT3 (S13G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534366	NM_001080488.2(ONECUT3):c.172G>A (p.Gly58Ser)	ONECUT3 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522157	NM_001080488.2(ONECUT3):c.688C>G (p.Pro230Ala)	ONECUT3 (P230A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522076	NM_001080488.2(ONECUT3):c.814A>G (p.Ser272Gly)	ONECUT3 (S272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514348	NM_001080488.2(ONECUT3):c.1478A>T (p.Lys493Met)	ONECUT3 (K493M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508653	NM_001080488.2(ONECUT3):c.1478A>C (p.Lys493Thr)	ONECUT3 (K493T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486990	NM_001080488.2(ONECUT3):c.946G>A (p.Ala316Thr)	ONECUT3 (A316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468138	NM_001080488.2(ONECUT3):c.449C>G (p.Ala150Gly)	ONECUT3 (A150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460698	NM_001080488.2(ONECUT3):c.200G>C (p.Gly67Ala)	ONECUT3 (G67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457151	NM_001080488.2(ONECUT3):c.532C>G (p.Leu178Val)	ONECUT3 (L178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2407321	NM_001080488.2(ONECUT3):c.82G>T (p.Ala28Ser)	ONECUT3 (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406851	NM_001080488.2(ONECUT3):c.1435A>C (p.Thr479Pro)	ONECUT3 (T479P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401126	NM_001080488.2(ONECUT3):c.826G>A (p.Gly276Ser)	ONECUT3 (G276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389417	NM_001080488.2(ONECUT3):c.559C>T (p.Pro187Ser)	ONECUT3 (P187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366627	NM_001080488.2(ONECUT3):c.748G>C (p.Ala250Pro)	ONECUT3 (A250P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362044	NM_001080488.2(ONECUT3):c.86G>A (p.Arg29His)	ONECUT3 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359794	NM_001080488.2(ONECUT3):c.19A>G (p.Ser7Gly)	ONECUT3 (S7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351707	NM_001080488.2(ONECUT3):c.1301A>G (p.Lys434Arg)	ONECUT3 (K434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346329	NM_001080488.2(ONECUT3):c.823G>A (p.Ala275Thr)	ONECUT3 (A275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344089	NM_001080488.2(ONECUT3):c.72C>G (p.Ser24Arg)	ONECUT3 (S24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342404	NM_001080488.2(ONECUT3):c.496G>A (p.Gly166Ser)	ONECUT3 (G166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320915	NM_001080488.2(ONECUT3):c.74C>A (p.Pro25Gln)	ONECUT3 (P25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310219	NM_001080488.2(ONECUT3):c.826G>C (p.Gly276Arg)	ONECUT3 (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300835	NM_001080488.2(ONECUT3):c.821G>C (p.Gly274Ala)	ONECUT3 (G274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298648	NM_001080488.2(ONECUT3):c.835A>G (p.Ser279Gly)	ONECUT3 (S279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278287	NM_001080488.2(ONECUT3):c.241C>T (p.Arg81Cys)	ONECUT3 (R81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275434	NM_001080488.2(ONECUT3):c.530C>T (p.Ala177Val)	ONECUT3 (A177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275284	NM_001080488.2(ONECUT3):c.585G>C (p.Met195Ile)	ONECUT3 (M195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256387	NM_001080488.2(ONECUT3):c.953C>G (p.Ala318Gly)	ONECUT3 (A318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226291	NM_001080488.2(ONECUT3):c.1472T>A (p.Phe491Tyr)	ONECUT3 (F491Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221244	NM_001080488.2(ONECUT3):c.443C>G (p.Ala148Gly)	ONECUT3 (A148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211761	NM_001080488.2(ONECUT3):c.950C>G (p.Ala317Gly)	ONECUT3 (A317G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686628	GRCh37/hg19 19p13.3(chr19:1772993-1990715)x1	ABHD17A, ADAT3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 685369	GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3	ADAMTSL5, APC2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
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 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 93