ClinVar for Gene (Select 54754) - ClinVar

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Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063108	GRCh37/hg19 9q22.32(chr9:96614972-98444423)x1	AOPEP, BARX1 +14 more	Copy number loss	not specified	GPathogenic
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 2685356	GRCh37/hg19 9q22.32(chr9:97043783-97098674)x1	NUTM2F, ZNF169	Copy number loss	not provided	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659317	NM_017561.2(NUTM2F):c.1971C>T (p.Ser657=)	NUTM2F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594632	NM_017561.2(NUTM2F):c.947G>A (p.Arg316Gln)	NUTM2F (R316Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593091	NM_017561.2(NUTM2F):c.158C>G (p.Pro53Arg)	NUTM2F (P53R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557730	NM_017561.2(NUTM2F):c.1667C>T (p.Ala556Val)	NUTM2F (A556V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552076	NM_017561.2(NUTM2F):c.1067C>A (p.Ala356Asp)	NUTM2F (A356D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547609	NM_017561.2(NUTM2F):c.737G>A (p.Arg246Gln)	NUTM2F (R246Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541864	NM_017561.2(NUTM2F):c.1210G>A (p.Glu404Lys)	NUTM2F (E404K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538990	NM_017561.2(NUTM2F):c.1705A>G (p.Met569Val)	NUTM2F (M569V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535240	NM_017561.2(NUTM2F):c.2257C>T (p.His753Tyr)	NUTM2F (H753Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526626	NM_017561.2(NUTM2F):c.952C>A (p.Pro318Thr)	NUTM2F (P318T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513442	NM_017561.2(NUTM2F):c.32G>A (p.Gly11Glu)	NUTM2F (G11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511844	NM_017561.2(NUTM2F):c.1258C>T (p.Arg420Trp)	NUTM2F (R420W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2511186	NM_017561.2(NUTM2F):c.232G>A (p.Ala78Thr)	NUTM2F (A78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489388	NM_017561.2(NUTM2F):c.1391G>C (p.Arg464Pro)	NUTM2F (R464P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2467095	NM_017561.2(NUTM2F):c.281C>T (p.Pro94Leu)	NUTM2F (P94L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462123	NM_017561.2(NUTM2F):c.1259G>A (p.Arg420Gln)	NUTM2F (R420Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456327	NM_017561.2(NUTM2F):c.800C>A (p.Thr267Lys)	NUTM2F (T267K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406217	NM_017561.2(NUTM2F):c.1661C>T (p.Thr554Ile)	NUTM2F (T554I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404775	NM_017561.2(NUTM2F):c.1228C>T (p.Pro410Ser)	NUTM2F (P410S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391475	NM_017561.2(NUTM2F):c.736C>T (p.Arg246Trp)	NUTM2F (R246W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385875	NM_017561.2(NUTM2F):c.1901C>T (p.Thr634Met)	NUTM2F (T634M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383284	NM_017561.2(NUTM2F):c.2254C>T (p.Arg752Trp)	NUTM2F (R752W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375605	NM_017561.2(NUTM2F):c.1142C>T (p.Pro381Leu)	NUTM2F (P381L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372695	NM_017561.2(NUTM2F):c.751A>G (p.Met251Val)	NUTM2F (M251V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369769	NM_017561.2(NUTM2F):c.283C>T (p.Pro95Ser)	NUTM2F (P95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363010	NM_017561.2(NUTM2F):c.814C>T (p.Arg272Trp)	NUTM2F (R272W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361418	NM_017561.2(NUTM2F):c.1502T>C (p.Leu501Pro)	NUTM2F (L501P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359472	NM_017561.2(NUTM2F):c.1207G>A (p.Glu403Lys)	NUTM2F (E403K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353914	NM_017561.2(NUTM2F):c.587G>A (p.Arg196Gln)	NUTM2F (R196Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350959	NM_017561.2(NUTM2F):c.755C>T (p.Thr252Met)	NUTM2F (T252M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337642	NM_017561.2(NUTM2F):c.38G>A (p.Gly13Asp)	NUTM2F (G13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333364	NM_017561.2(NUTM2F):c.1120C>T (p.Pro374Ser)	NUTM2F (P374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311079	NM_017561.2(NUTM2F):c.1219G>T (p.Gly407Trp)	NUTM2F (G407W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297667	NM_017561.2(NUTM2F):c.77C>T (p.Thr26Met)	NUTM2F (T26M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290739	NM_017561.2(NUTM2F):c.1131G>T (p.Arg377Ser)	NUTM2F (R377S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287241	NM_017561.2(NUTM2F):c.463C>T (p.Leu155Phe)	NUTM2F (L155F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272532	NM_017561.2(NUTM2F):c.800C>G (p.Thr267Arg)	NUTM2F (T267R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263823	NM_017561.2(NUTM2F):c.761A>C (p.Glu254Ala)	NUTM2F (E254A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258244	NM_017561.2(NUTM2F):c.2005G>A (p.Gly669Arg)	NUTM2F (G669R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250950	NM_017561.2(NUTM2F):c.1781C>T (p.Ser594Phe)	NUTM2F (S594F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247934	NM_017561.2(NUTM2F):c.714C>G (p.Ile238Met)	NUTM2F (I238M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245737	NM_017561.2(NUTM2F):c.961C>T (p.Pro321Ser)	NUTM2F (P321S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244041	NM_017561.2(NUTM2F):c.1418A>G (p.Asp473Gly)	NUTM2F (D473G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235939	NM_017561.2(NUTM2F):c.1425G>T (p.Gln475His)	NUTM2F (Q475H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231458	NM_017561.2(NUTM2F):c.781A>G (p.Met261Val)	NUTM2F (M261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1808833	GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1	AOPEP, BARX1 +22 more	Copy number loss	not provided	GPathogenic
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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	MSANTD3, MSANTD3-TMEFF1 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 873324	Single allele	BARX1, FAM120A +11 more	Duplication	Delayed gross motor development +5 more	GLikely pathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 443720	GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1	AOPEP, CCDC180 +26 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149008	GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4	AOPEP, BARX1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 81