ClinVar for Gene (Select 1854) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274109	NM_001025248.2(DUT):c.604T>C (p.Phe202Leu)	DUT (F117L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243886	NC_000015.9:g.(?_48413242)_(49097846_?)del	CEP152, CTXN2 +5 more	Deletion	not provided	GPathogenic
Select item 3068241	NM_001025248.2(DUT):c.647G>A (p.Arg216Gln)	DUT (R105Q +3 more)	Single nucleotide variant (missense variant)	Bone marrow failure and diabetes mellitus syndrome	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063361	GRCh37/hg19 15q21.1(chr15:48606170-48732715)x3	DUT, FBN1	Copy number gain	not specified	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2645309	NM_001025248.2(DUT):c.327G>A (p.Val109=)	DUT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2545353	NM_001025248.2(DUT):c.640G>C (p.Gly214Arg)	DUT (G103R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538025	NM_001025248.2(DUT):c.404G>C (p.Gly135Ala)	DUT (G135A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245952	NM_001025248.2(DUT):c.158T>C (p.Ile53Thr)	DUT, DUT-AS1 +1 more (I53T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2237387	NM_001025248.2(DUT):c.736T>G (p.Phe246Val)	DUT (F158V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1706580	NM_001025248.2(DUT):c.425A>G (p.Tyr142Cys)	DUT (Y142C +3 more)	Single nucleotide variant (missense variant)	Bone marrow failure and diabetes mellitus syndrome	GPathogenic
Select item 1526454	GRCh37/hg19 15q21.1(chr15:48606170-48732716)	DUT, FBN1	Copy number gain	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526451	GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)	EID1, FAM227B +15 more	Copy number loss	not specified	GPathogenic
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1454595	NC_000015.9:g.(?_48426485)_(48730124_?)del	CTXN2, DUT +4 more	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1341108	GRCh37/hg19 15q21.1(chr15:48179968-48727846)x1	CTXN2, DUT +4 more	Copy number loss	not provided	GPathogenic
Select item 1336417	NM_001025248.2(DUT):c.280+9G>A	DUT, DUT-AS1 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 832299	NC_000015.10:g.(?_48134288)_(48644779_?)del	CTXN2, DUT +4 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
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 666430	Single allele	CTXN2, DUT +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 623429	NM_001025248.2(DUT):c.298C>T (p.Pro100Ser)	DUT (P100S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	High myopia	GUncertain significance
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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 34