30038[HGNC] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3307185	NM_178034.4(PLA2G4D):c.2444G>C (p.Arg815Thr)	PLA2G4D (R815T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531378	NM_178034.4(PLA2G4D):c.2393A>T (p.Gln798Leu)	PLA2G4D (Q798L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214136	NM_178034.4(PLA2G4D):c.2365G>A (p.Val789Met)	PLA2G4D (V789M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548805	NM_178034.4(PLA2G4D):c.2347C>G (p.Arg783Gly)	PLA2G4D (R783G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307189	NM_178034.4(PLA2G4D):c.2279C>T (p.Thr760Ile)	PLA2G4D (T760I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399331	NM_178034.4(PLA2G4D):c.2240G>A (p.Arg747His)	PLA2G4D (R747H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215437	NM_178034.4(PLA2G4D):c.2174C>T (p.Pro725Leu)	PLA2G4D (P725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214135	NM_178034.4(PLA2G4D):c.2167G>A (p.Glu723Lys)	PLA2G4D (E723K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214134	NM_178034.4(PLA2G4D):c.2164C>T (p.Pro722Ser)	PLA2G4D (P722S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645232	NM_178034.4(PLA2G4D):c.2157C>T (p.Pro719=)	PLA2G4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278189	NM_178034.4(PLA2G4D):c.2140C>T (p.His714Tyr)	PLA2G4D (H714Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326274	NM_178034.4(PLA2G4D):c.2114A>G (p.Gln705Arg)	PLA2G4D (Q705R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222514	NM_178034.4(PLA2G4D):c.2108G>A (p.Ser703Asn)	PLA2G4D (S703N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409828	NM_178034.4(PLA2G4D):c.2101G>C (p.Glu701Gln)	PLA2G4D (E701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360906	NM_178034.4(PLA2G4D):c.2087C>T (p.Pro696Leu)	PLA2G4D (P696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381575	NM_178034.4(PLA2G4D):c.2072G>A (p.Arg691Gln)	PLA2G4D (R691Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214132	NM_178034.4(PLA2G4D):c.2033C>T (p.Ala678Val)	PLA2G4D (A678V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214131	NM_178034.4(PLA2G4D):c.1999G>C (p.Asp667His)	PLA2G4D (D667H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214130	NM_178034.4(PLA2G4D):c.1991G>A (p.Arg664His)	PLA2G4D (R664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214129	NM_178034.4(PLA2G4D):c.1990C>T (p.Arg664Cys)	PLA2G4D (R664C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293566	NM_178034.4(PLA2G4D):c.1982G>A (p.Arg661Gln)	PLA2G4D (R661Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346178	NM_178034.4(PLA2G4D):c.1975A>G (p.Met659Val)	PLA2G4D (M659V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346565	NM_178034.4(PLA2G4D):c.1942G>A (p.Ala648Thr)	PLA2G4D (A648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559319	NM_178034.4(PLA2G4D):c.1802G>T (p.Arg601Leu)	PLA2G4D (R601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251676	NM_178034.4(PLA2G4D):c.1801C>T (p.Arg601Cys)	PLA2G4D (R601C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214127	NM_178034.4(PLA2G4D):c.1748C>T (p.Thr583Met)	PLA2G4D (T583M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412273	NM_178034.4(PLA2G4D):c.1712C>T (p.Ser571Phe)	PLA2G4D (S571F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307184	NM_178034.4(PLA2G4D):c.1703C>T (p.Ser568Leu)	PLA2G4D (S568L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307193	NM_178034.4(PLA2G4D):c.1666A>C (p.Lys556Gln)	PLA2G4D (K556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214126	NM_178034.4(PLA2G4D):c.1627A>G (p.Thr543Ala)	PLA2G4D (T543A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490974	NM_178034.4(PLA2G4D):c.1584C>G (p.Ser528Arg)	PLA2G4D (S528R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214125	NM_178034.4(PLA2G4D):c.1553C>A (p.Pro518His)	PLA2G4D (P518H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214124	NM_178034.4(PLA2G4D):c.1513G>A (p.Glu505Lys)	PLA2G4D (E505K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375549	NM_178034.4(PLA2G4D):c.1507G>A (p.Gly503Ser)	PLA2G4D (G503S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212325	NM_178034.4(PLA2G4D):c.1499A>G (p.Glu500Gly)	PLA2G4D (E500G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214123	NM_178034.4(PLA2G4D):c.1480G>C (p.Gly494Arg)	PLA2G4D (G494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306513	NM_178034.4(PLA2G4D):c.1476G>T (p.Lys492Asn)	PLA2G4D (K492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596186	NM_178034.4(PLA2G4D):c.1470C>A (p.Phe490Leu)	PLA2G4D (F490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214121	NM_178034.4(PLA2G4D):c.1454C>G (p.Pro485Arg)	PLA2G4D (P485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214120	NM_178034.4(PLA2G4D):c.1423C>G (p.Leu475Val)	PLA2G4D (L475V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307188	NM_178034.4(PLA2G4D):c.1361G>A (p.Arg454Gln)	PLA2G4D (R454Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307187	NM_178034.4(PLA2G4D):c.1360C>T (p.Arg454Trp)	PLA2G4D (R454W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342770	NM_178034.4(PLA2G4D):c.1297G>A (p.Glu433Lys)	PLA2G4D (E433K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486560	NM_178034.4(PLA2G4D):c.1286C>T (p.Ala429Val)	PLA2G4D (A429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489281	NM_178034.4(PLA2G4D):c.1262C>T (p.Pro421Leu)	PLA2G4D (P421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214119	NM_178034.4(PLA2G4D):c.1229G>A (p.Arg410Gln)	PLA2G4D (R410Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3214118	NM_178034.4(PLA2G4D):c.1217C>A (p.Ala406Glu)	PLA2G4D (A406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537970	NM_178034.4(PLA2G4D):c.1177G>T (p.Ala393Ser)	PLA2G4D (A393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598049	NM_178034.4(PLA2G4D):c.1166G>A (p.Arg389Gln)	PLA2G4D (R389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214117	NM_178034.4(PLA2G4D):c.1163C>A (p.Ala388Asp)	PLA2G4D (A388D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307186	NM_178034.4(PLA2G4D):c.1128G>C (p.Trp376Cys)	PLA2G4D (W376C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214116	NM_178034.4(PLA2G4D):c.1091C>T (p.Thr364Met)	PLA2G4D (T364M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645233	NM_178034.4(PLA2G4D):c.1023C>T (p.His341=)	PLA2G4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3307191	NM_178034.4(PLA2G4D):c.1019G>A (p.Gly340Asp)	PLA2G4D (G340D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214115	NM_178034.4(PLA2G4D):c.1018G>A (p.Gly340Ser)	PLA2G4D (G340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307192	NM_178034.4(PLA2G4D):c.1003A>G (p.Met335Val)	PLA2G4D (M335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2617634	NM_178034.4(PLA2G4D):c.934G>T (p.Asp312Tyr)	PLA2G4D (D312Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214144	NM_178034.4(PLA2G4D):c.923C>G (p.Ala308Gly)	PLA2G4D (A308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353481	NM_178034.4(PLA2G4D):c.919C>A (p.Gln307Lys)	PLA2G4D (Q307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214143	NM_178034.4(PLA2G4D):c.888G>C (p.Arg296Ser)	PLA2G4D (R296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338703	NM_178034.4(PLA2G4D):c.845T>C (p.Leu282Pro)	PLA2G4D (L282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605810	NM_178034.4(PLA2G4D):c.817G>A (p.Gly273Ser)	PLA2G4D (G273S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283366	NM_178034.4(PLA2G4D):c.758T>C (p.Val253Ala)	PLA2G4D (V253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250430	NM_178034.4(PLA2G4D):c.746T>C (p.Ile249Thr)	PLA2G4D (I249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262078	NM_178034.4(PLA2G4D):c.712G>T (p.Gly238Trp)	PLA2G4D (G238W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214142	NM_178034.4(PLA2G4D):c.670A>G (p.Arg224Gly)	PLA2G4D (R224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330975	NM_178034.4(PLA2G4D):c.665G>A (p.Arg222His)	PLA2G4D (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531379	NM_178034.4(PLA2G4D):c.621C>G (p.Phe207Leu)	PLA2G4D (F207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538003	NM_178034.4(PLA2G4D):c.587C>T (p.Thr196Ile)	PLA2G4D (T196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645234	NM_178034.4(PLA2G4D):c.561G>C (p.Leu187=)	PLA2G4D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289696	NM_178034.4(PLA2G4D):c.459C>A (p.Asn153Lys)	LOC125078065, PLA2G4D (N153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318403	NM_178034.4(PLA2G4D):c.445A>G (p.Asn149Asp)	LOC125078065, PLA2G4D (N149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214140	NM_178034.4(PLA2G4D):c.418A>T (p.Met140Leu)	PLA2G4D (M140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403315	NM_178034.4(PLA2G4D):c.387+14T>G	PLA2G4D	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2226830	NM_178034.4(PLA2G4D):c.346C>T (p.Pro116Ser)	PLA2G4D (P116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600714	NM_178034.4(PLA2G4D):c.332T>G (p.Ile111Ser)	PLA2G4D (I111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533228	NM_178034.4(PLA2G4D):c.317A>T (p.Lys106Met)	PLA2G4D (K106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214138	NM_178034.4(PLA2G4D):c.276C>G (p.Ile92Met)	PLA2G4D (I92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214137	NM_178034.4(PLA2G4D):c.243A>T (p.Gln81His)	PLA2G4D (Q81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370614	NM_178034.4(PLA2G4D):c.167G>A (p.Gly56Glu)	PLA2G4D (G56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279630	NM_178034.4(PLA2G4D):c.47G>C (p.Gly16Ala)	PLA2G4D (G16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214139	NM_178034.4(PLA2G4D):c.29C>A (p.Pro10His)	PLA2G4D (P10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207758	NM_178034.4(PLA2G4D):c.6G>C (p.Glu2Asp)	PLA2G4D (E2D)	Single nucleotide variant (missense variant)	not specified	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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +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 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	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

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Items: 98