ClinVar for Gene (Select 283748) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2645234	NM_178034.4(PLA2G4D):c.561G>C (p.Leu187=)	PLA2G4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645233	NM_178034.4(PLA2G4D):c.1023C>T (p.His341=)	PLA2G4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645232	NM_178034.4(PLA2G4D):c.2157C>T (p.Pro719=)	PLA2G4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617634	NM_178034.4(PLA2G4D):c.934G>T (p.Asp312Tyr)	PLA2G4D (D312Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605810	NM_178034.4(PLA2G4D):c.817G>A (p.Gly273Ser)	PLA2G4D (G273S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2600714	NM_178034.4(PLA2G4D):c.332T>G (p.Ile111Ser)	PLA2G4D (I111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598049	NM_178034.4(PLA2G4D):c.1166G>A (p.Arg389Gln)	PLA2G4D (R389Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596186	NM_178034.4(PLA2G4D):c.1470C>A (p.Phe490Leu)	PLA2G4D (F490L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559319	NM_178034.4(PLA2G4D):c.1802G>T (p.Arg601Leu)	PLA2G4D (R601L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548805	NM_178034.4(PLA2G4D):c.2347C>G (p.Arg783Gly)	PLA2G4D (R783G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538003	NM_178034.4(PLA2G4D):c.587C>T (p.Thr196Ile)	PLA2G4D (T196I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537970	NM_178034.4(PLA2G4D):c.1177G>T (p.Ala393Ser)	PLA2G4D (A393S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533228	NM_178034.4(PLA2G4D):c.317A>T (p.Lys106Met)	PLA2G4D (K106M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531379	NM_178034.4(PLA2G4D):c.621C>G (p.Phe207Leu)	PLA2G4D (F207L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531378	NM_178034.4(PLA2G4D):c.2393A>T (p.Gln798Leu)	PLA2G4D (Q798L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490974	NM_178034.4(PLA2G4D):c.1584C>G (p.Ser528Arg)	PLA2G4D (S528R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489281	NM_178034.4(PLA2G4D):c.1262C>T (p.Pro421Leu)	PLA2G4D (P421L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486560	NM_178034.4(PLA2G4D):c.1286C>T (p.Ala429Val)	PLA2G4D (A429V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412273	NM_178034.4(PLA2G4D):c.1712C>T (p.Ser571Phe)	PLA2G4D (S571F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409828	NM_178034.4(PLA2G4D):c.2101G>C (p.Glu701Gln)	PLA2G4D (E701Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399331	NM_178034.4(PLA2G4D):c.2240G>A (p.Arg747His)	PLA2G4D (R747H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381575	NM_178034.4(PLA2G4D):c.2072G>A (p.Arg691Gln)	PLA2G4D (R691Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375549	NM_178034.4(PLA2G4D):c.1507G>A (p.Gly503Ser)	PLA2G4D (G503S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370614	NM_178034.4(PLA2G4D):c.167G>A (p.Gly56Glu)	PLA2G4D (G56E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360906	NM_178034.4(PLA2G4D):c.2087C>T (p.Pro696Leu)	PLA2G4D (P696L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353481	NM_178034.4(PLA2G4D):c.919C>A (p.Gln307Lys)	PLA2G4D (Q307K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346565	NM_178034.4(PLA2G4D):c.1942G>A (p.Ala648Thr)	PLA2G4D (A648T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346178	NM_178034.4(PLA2G4D):c.1975A>G (p.Met659Val)	PLA2G4D (M659V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342770	NM_178034.4(PLA2G4D):c.1297G>A (p.Glu433Lys)	PLA2G4D (E433K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338703	NM_178034.4(PLA2G4D):c.845T>C (p.Leu282Pro)	PLA2G4D (L282P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330975	NM_178034.4(PLA2G4D):c.665G>A (p.Arg222His)	PLA2G4D (R222H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326274	NM_178034.4(PLA2G4D):c.2114A>G (p.Gln705Arg)	PLA2G4D (Q705R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318403	NM_178034.4(PLA2G4D):c.445A>G (p.Asn149Asp)	LOC125078065, PLA2G4D (N149D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306513	NM_178034.4(PLA2G4D):c.1476G>T (p.Lys492Asn)	PLA2G4D (K492N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293566	NM_178034.4(PLA2G4D):c.1982G>A (p.Arg661Gln)	PLA2G4D (R661Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289696	NM_178034.4(PLA2G4D):c.459C>A (p.Asn153Lys)	LOC125078065, PLA2G4D (N153K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283366	NM_178034.4(PLA2G4D):c.758T>C (p.Val253Ala)	PLA2G4D (V253A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279630	NM_178034.4(PLA2G4D):c.47G>C (p.Gly16Ala)	PLA2G4D (G16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278189	NM_178034.4(PLA2G4D):c.2140C>T (p.His714Tyr)	PLA2G4D (H714Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262078	NM_178034.4(PLA2G4D):c.712G>T (p.Gly238Trp)	PLA2G4D (G238W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251676	NM_178034.4(PLA2G4D):c.1801C>T (p.Arg601Cys)	PLA2G4D (R601C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250430	NM_178034.4(PLA2G4D):c.746T>C (p.Ile249Thr)	PLA2G4D (I249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226830	NM_178034.4(PLA2G4D):c.346C>T (p.Pro116Ser)	PLA2G4D (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222514	NM_178034.4(PLA2G4D):c.2108G>A (p.Ser703Asn)	PLA2G4D (S703N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215437	NM_178034.4(PLA2G4D):c.2174C>T (p.Pro725Leu)	PLA2G4D (P725L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212325	NM_178034.4(PLA2G4D):c.1499A>G (p.Glu500Gly)	PLA2G4D (E500G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207758	NM_178034.4(PLA2G4D):c.6G>C (p.Glu2Asp)	PLA2G4D (E2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980031	GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3	MGA, PLA2G4F +9 more	Copy number gain	not provided	GLikely benign
Select item 790690	NM_178034.4(PLA2G4D):c.997C>T (p.Arg333Trp)	PLA2G4D (R333W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768702	NM_178034.4(PLA2G4D):c.943C>T (p.Leu315=)	PLA2G4D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564195	GRCh37/hg19 15q15.1(chr15:42079854-42426833)x3	SPTBN5, PLA2G4E +5 more	Copy number gain	not provided	GUncertain significance
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 403315	NM_178034.4(PLA2G4D):c.387+14T>G	PLA2G4D	Single nucleotide variant (intron variant)	not specified	GBenign
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 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 57437	GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3	EHD4, EHD4-AS1 +31 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 63