ClinVar for Gene (Select 11001) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163941	NM_003645.4(SLC27A2):c.451G>C (p.Gly151Arg)	SLC27A2 (G151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163940	NM_003645.4(SLC27A2):c.410A>G (p.Asn137Ser)	SLC27A2 (N137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163939	NM_003645.4(SLC27A2):c.332T>G (p.Met111Arg)	LOC130057037, SLC27A2 (M111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163937	NM_003645.4(SLC27A2):c.1613A>G (p.Asp538Gly)	SLC27A2 (D538G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163936	NM_003645.4(SLC27A2):c.1376T>G (p.Leu459Arg)	SLC27A2 (L459R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163935	NM_003645.4(SLC27A2):c.1125G>A (p.Ala375=)	SLC27A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2617309	NM_003645.4(SLC27A2):c.728G>T (p.Trp243Leu)	SLC27A2 (W243L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609411	NM_003645.4(SLC27A2):c.1210G>A (p.Asp404Asn)	SLC27A2 (D351N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595163	NM_003645.4(SLC27A2):c.808G>A (p.Ala270Thr)	SLC27A2 (A270T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	DTWD1, AP4E1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2569671	NM_003645.4(SLC27A2):c.1720C>T (p.Arg574Cys)	SLC27A2 (R521C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548566	NM_003645.4(SLC27A2):c.865C>T (p.Arg289Trp)	SLC27A2 (R236W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543867	NM_003645.4(SLC27A2):c.1724A>G (p.Lys575Arg)	SLC27A2 (K575R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530698	NM_003645.4(SLC27A2):c.152C>T (p.Pro51Leu)	SLC27A2 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526873	NM_003645.4(SLC27A2):c.930G>T (p.Gln310His)	SLC27A2 (Q310H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512664	NM_003645.4(SLC27A2):c.839T>C (p.Ile280Thr)	SLC27A2 (I280T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512460	NM_003645.4(SLC27A2):c.357G>T (p.Trp119Cys)	LOC130057037, SLC27A2 (W119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479989	NM_003645.4(SLC27A2):c.581T>C (p.Phe194Ser)	SLC27A2 (F194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474684	NM_003645.4(SLC27A2):c.1700T>A (p.Ile567Asn)	SLC27A2 (I514N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465888	NM_003645.4(SLC27A2):c.280G>A (p.Ala94Thr)	LOC130057037, SLC27A2 (A94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464007	NM_003645.4(SLC27A2):c.445T>A (p.Cys149Ser)	SLC27A2 (C149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461606	NM_003645.4(SLC27A2):c.1670G>A (p.Arg557Gln)	SLC27A2 (R504Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388579	NM_003645.4(SLC27A2):c.838A>G (p.Ile280Val)	SLC27A2 (I280V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343533	NM_003645.4(SLC27A2):c.1124C>T (p.Ala375Val)	SLC27A2 (A375V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333125	NM_003645.4(SLC27A2):c.177C>G (p.Phe59Leu)	SLC27A2 (F59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316464	NM_003645.4(SLC27A2):c.613C>G (p.Pro205Ala)	SLC27A2 (P205A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284240	NM_003645.4(SLC27A2):c.706A>G (p.Met236Val)	SLC27A2 (M236V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2280975	NM_003645.4(SLC27A2):c.295C>G (p.Leu99Val)	LOC130057037, SLC27A2 (L99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272085	NM_003645.4(SLC27A2):c.1223G>C (p.Arg408Pro)	SLC27A2 (R355P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249208	NM_003645.4(SLC27A2):c.263G>A (p.Ser88Asn)	SLC27A2 (S88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246826	NM_003645.4(SLC27A2):c.746C>T (p.Thr249Ile)	SLC27A2 (T249I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237592	NM_003645.4(SLC27A2):c.1508T>C (p.Leu503Pro)	SLC27A2 (L450P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222290	NM_003645.4(SLC27A2):c.1379A>G (p.Tyr460Cys)	SLC27A2 (Y460C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220355	NM_003645.4(SLC27A2):c.757G>A (p.Gly253Arg)	SLC27A2 (G253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219464	NM_003645.4(SLC27A2):c.1139C>T (p.Ala380Val)	SLC27A2 (A380V +1 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 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +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 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 730873	NM_003645.4(SLC27A2):c.1332G>A (p.Gln444=)	SLC27A2	Single nucleotide variant (synonymous variant)	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 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 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 +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 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: 55