ClinVar for Gene (Select 3175) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204323	NM_004498.4(ONECUT1):c.829G>A (p.Gly277Ser)	ONECUT1 (G277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204322	NM_004498.4(ONECUT1):c.797G>T (p.Gly266Val)	ONECUT1 (G266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204321	NM_004498.4(ONECUT1):c.730A>G (p.Ile244Val)	ONECUT1 (I244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204320	NM_004498.4(ONECUT1):c.724G>A (p.Val242Met)	ONECUT1 (V242M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204319	NM_004498.4(ONECUT1):c.647A>G (p.Asn216Ser)	ONECUT1 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204318	NM_004498.4(ONECUT1):c.145C>A (p.His49Asn)	ONECUT1 (H49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204317	NM_004498.4(ONECUT1):c.1027G>T (p.Gly343Cys)	ONECUT1 (G343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2623094	NM_004498.4(ONECUT1):c.806G>A (p.Arg269Gln)	ONECUT1 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557043	NM_004498.4(ONECUT1):c.1219A>C (p.Asn407His)	ONECUT1 (N407H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555073	NM_004498.4(ONECUT1):c.331C>T (p.Pro111Ser)	ONECUT1 (P111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549251	NM_004498.4(ONECUT1):c.1346G>T (p.Ser449Ile)	ONECUT1 (S449I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533427	NM_004498.4(ONECUT1):c.481A>C (p.Met161Leu)	ONECUT1 (M161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521327	NM_004498.4(ONECUT1):c.447C>G (p.Phe149Leu)	ONECUT1 (F149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474228	NM_004498.4(ONECUT1):c.953G>A (p.Arg318Lys)	ONECUT1 (R318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471562	NM_004498.4(ONECUT1):c.42C>A (p.His14Gln)	ONECUT1 (H14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2410576	NM_004498.4(ONECUT1):c.520G>A (p.Gly174Ser)	ONECUT1 (G174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375886	NM_004498.4(ONECUT1):c.563G>A (p.Gly188Asp)	ONECUT1 (G188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332538	NM_004498.4(ONECUT1):c.728C>A (p.Pro243His)	ONECUT1 (P243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325112	NM_004498.4(ONECUT1):c.649G>A (p.Gly217Ser)	ONECUT1 (G217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271591	NM_004498.4(ONECUT1):c.389A>G (p.His130Arg)	ONECUT1 (H130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239773	NM_004498.4(ONECUT1):c.923A>G (p.Tyr308Cys)	ONECUT1 (Y308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233239	NM_004498.4(ONECUT1):c.374A>G (p.His125Arg)	ONECUT1 (H125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229751	NM_004498.4(ONECUT1):c.116C>G (p.Ala39Gly)	ONECUT1 (A39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217825	NM_004498.4(ONECUT1):c.926G>C (p.Ser309Thr)	ONECUT1 (S309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1255607	NM_004498.4(ONECUT1):c.242G>A (p.Gly81Asp)	ONECUT1 (G81D)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1255606	NM_004498.4(ONECUT1):c.805C>G (p.Arg269Gly)	ONECUT1 (R269G)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic liver disease	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 980039	GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1	LEO1, TMOD3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 815716	GRCh37/hg19 15q21.3(chr15:53068445-54257129)x3	ONECUT1, WDR72	Copy number gain	not provided	GUncertain significance
Select item 747520	NM_004498.4(ONECUT1):c.1269G>A (p.Gly423=)	ONECUT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685777	GRCh37/hg19 15q21.3(chr15:53068505-54256536)x3	ONECUT1, WDR72	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic

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Links from Gene

Items: 50