GPLD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic
Select item 149747	GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)x1	ACOT13, ALDH5A1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 151607	GRCh38/hg38 6p22.3(chr6:24281919-24479832)x1	DCDC2, GPLD1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 2265707	NM_001503.4(GPLD1):c.2488G>A (p.Gly830Arg)	GPLD1 (G830R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356648	NM_001503.4(GPLD1):c.2486C>G (p.Ser829Cys)	GPLD1 (S829C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730949	NM_001503.4(GPLD1):c.2442del (p.Val815fs)	GPLD1 (V815fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3101334	NM_001503.4(GPLD1):c.2397G>C (p.Arg799Ser)	GPLD1 (R799S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373130	NM_001503.4(GPLD1):c.2312T>C (p.Met771Thr)	GPLD1 (M771T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101333	NM_001503.4(GPLD1):c.2311A>G (p.Met771Val)	GPLD1 (M771V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377993	NM_001503.4(GPLD1):c.2294A>G (p.Glu765Gly)	GPLD1 (E765G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215566	NM_001503.4(GPLD1):c.2183A>G (p.Asp728Gly)	GPLD1 (D728G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233216	NM_001503.4(GPLD1):c.2140C>T (p.Arg714Cys)	GPLD1 (R714C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101331	NM_001503.4(GPLD1):c.2132G>T (p.Gly711Val)	GPLD1 (G711V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545801	NM_001503.4(GPLD1):c.2078G>A (p.Arg693His)	GPLD1 (R693H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370716	NM_001503.4(GPLD1):c.2050G>A (p.Val684Met)	GPLD1 (V684M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355182	NM_001503.4(GPLD1):c.1946C>T (p.Thr649Ile)	GPLD1 (T649I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101329	NM_001503.4(GPLD1):c.1894G>T (p.Gly632Cys)	GPLD1 (G632C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101328	NM_001503.4(GPLD1):c.1870G>C (p.Val624Leu)	GPLD1 (V624L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205166	NM_001503.4(GPLD1):c.1844G>A (p.Arg615Gln)	GPLD1 (R615Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101327	NM_001503.4(GPLD1):c.1836A>C (p.Leu612Phe)	GPLD1 (L612F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399773	NM_001503.4(GPLD1):c.1777A>C (p.Thr593Pro)	GPLD1 (T593P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232310	NM_001503.4(GPLD1):c.1751T>G (p.Leu584Arg)	GPLD1 (L584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326273	NM_001503.4(GPLD1):c.1684C>G (p.Leu562Val)	GPLD1 (L562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101326	NM_001503.4(GPLD1):c.1637T>C (p.Ile546Thr)	GPLD1 (I546T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260715	NM_001503.4(GPLD1):c.1604C>G (p.Pro535Arg)	GPLD1 (P535R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535543	NM_001503.4(GPLD1):c.1420G>A (p.Val474Met)	GPLD1 (V474M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540123	NM_001503.4(GPLD1):c.1378A>G (p.Asn460Asp)	GPLD1 (N460D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517282	NM_001503.4(GPLD1):c.1346G>A (p.Arg449Gln)	GPLD1 (R449Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101325	NM_001503.4(GPLD1):c.1312C>T (p.His438Tyr)	GPLD1 (H438Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484255	NM_001503.4(GPLD1):c.1300G>A (p.Asp434Asn)	GPLD1 (D434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470330	NM_001503.4(GPLD1):c.1195G>A (p.Val399Met)	GPLD1 (V399M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101324	NM_001503.4(GPLD1):c.1184A>G (p.His395Arg)	GPLD1 (H395R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391482	NM_001503.4(GPLD1):c.1153A>G (p.Met385Val)	GPLD1 (M385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526467	NM_001503.4(GPLD1):c.1093G>A (p.Val365Ile)	GPLD1 (V365I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522611	NM_001503.4(GPLD1):c.1028A>G (p.Tyr343Cys)	GPLD1 (Y343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283817	NM_001503.4(GPLD1):c.883C>A (p.Gln295Lys)	GPLD1 (Q295K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548811	NM_001503.4(GPLD1):c.865G>A (p.Gly289Ser)	GPLD1 (G289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101339	NM_001503.4(GPLD1):c.790C>A (p.Leu264Ile)	GPLD1 (L264I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399741	NM_001503.4(GPLD1):c.778A>G (p.Asn260Asp)	GPLD1 (N260D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101338	NM_001503.4(GPLD1):c.757G>A (p.Asp253Asn)	GPLD1 (D253N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101337	NM_001503.4(GPLD1):c.700A>G (p.Thr234Ala)	GPLD1 (T234A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101336	NM_001503.4(GPLD1):c.664A>G (p.Met222Val)	GPLD1 (M222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101335	NM_001503.4(GPLD1):c.562G>T (p.Asp188Tyr)	GPLD1 (D188Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268901	NM_001503.4(GPLD1):c.542G>A (p.Arg181His)	GPLD1 (R181H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554247	NM_001503.4(GPLD1):c.404T>C (p.Leu135Pro)	GPLD1 (L135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292802	NM_001503.4(GPLD1):c.335C>T (p.Thr112Ile)	GPLD1 (T112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270519	NM_001503.4(GPLD1):c.263A>G (p.His88Arg)	GPLD1 (H88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312287	NM_001503.4(GPLD1):c.250T>C (p.Ser84Pro)	GPLD1 (S84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233297	NM_001503.4(GPLD1):c.220A>G (p.Ile74Val)	GPLD1 (I74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101330	NM_001503.4(GPLD1):c.190A>G (p.Ile64Val)	GPLD1 (I64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513804	NM_001503.4(GPLD1):c.176C>T (p.Ala59Val)	GPLD1 (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527052	NM_001503.4(GPLD1):c.136C>T (p.Arg46Cys)	GPLD1 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216496	NM_001503.4(GPLD1):c.89T>G (p.Val30Gly)	GPLD1 (V30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656285	NM_001503.4(GPLD1):c.84A>G (p.Thr28=)	GPLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1191435	NC_000006.12:g.24494624T>C	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GLikely benign
Select item 1276556	NC_000006.12:g.24494696C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1281626	NC_000006.12:g.24494747C>G	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1233201	NC_000006.12:g.24494776C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1282291	NC_000006.12:g.24494822C>G	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GBenign
Select item 1199105	NC_000006.12:g.24494888C>T	ALDH5A1, GPLD1	Single nucleotide variant	not provided	GLikely benign
Select item 3035102	NM_001080.3(ALDH5A1):c.-9G>A	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (5 prime UTR variant)	ALDH5A1-related disorder	GLikely benign
Select item 1918257	NM_001080.3(ALDH5A1):c.2T>C (p.Met1Thr)	ALDH5A1, GPLD1 +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2161688	NM_001080.3(ALDH5A1):c.5C>T (p.Ala2Val)	ALDH5A1, GPLD1 +1 more (A2V)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 288703	NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)	ALDH5A1, GPLD1 +1 more (C4G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2421737	NM_001080.3(ALDH5A1):c.12C>T (p.Cys4=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 459979	NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)	ALDH5A1, GPLD1 +1 more (I5V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 459983	NM_001080.3(ALDH5A1):c.18G>T (p.Trp6Cys)	ALDH5A1, GPLD1 +1 more (W6C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 837293	NM_001080.3(ALDH5A1):c.20T>G (p.Leu7Arg)	ALDH5A1, GPLD1 +1 more (L7R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 529496	NM_001080.3(ALDH5A1):c.21G>A (p.Leu7=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1095033	NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)	ALDH5A1, GPLD1 +1 more (R8W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2065862	NM_001080.3(ALDH5A1):c.24G>C (p.Arg8=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1608608	NM_001080.3(ALDH5A1):c.24G>T (p.Arg8=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1921050	NM_001080.3(ALDH5A1):c.27C>G (p.Ser9Arg)	ALDH5A1, GPLD1 +1 more (S9R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 657214	NM_001080.3(ALDH5A1):c.28T>A (p.Cys10Ser)	ALDH5A1, GPLD1 +1 more (C10S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1075244	NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs)	GPLD1, ALDH5A1 +1 more (A12fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 597221	NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)	ALDH5A1, GPLD1 +1 more (G11E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1058384	NM_001080.3(ALDH5A1):c.37C>T (p.Arg13Trp)	GPLD1, LOC129995978 +1 more (R13W)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency +1 more	GUncertain significance
Select item 1564590	NM_001080.3(ALDH5A1):c.42C>T (p.Arg14=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 837332	NM_001080.3(ALDH5A1):c.44T>G (p.Leu15Arg)	GPLD1, LOC129995978 +1 more (L15R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2195043	NM_001080.3(ALDH5A1):c.46G>C (p.Gly16Arg)	ALDH5A1, GPLD1 +1 more (G16R)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1306020	NM_001080.3(ALDH5A1):c.46G>A (p.Gly16Arg)	ALDH5A1, GPLD1 +1 more (G16R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284542	NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu)	ALDH5A1, GPLD1 +1 more (S17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 529491	NM_001080.3(ALDH5A1):c.51G>A (p.Ser17=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1582665	NM_001080.3(ALDH5A1):c.54G>A (p.Thr18=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 732290	NM_001080.3(ALDH5A1):c.54G>T (p.Thr18=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2005503	NM_001080.3(ALDH5A1):c.56T>C (p.Phe19Ser)	GPLD1, LOC129995978 +1 more (F19S)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 1062221	NM_001080.3(ALDH5A1):c.58C>G (p.Pro20Ala)	ALDH5A1, GPLD1 +1 more (P20A)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 459991	NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp)	ALDH5A1, GPLD1 +1 more (G21D)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 2856278	NM_001080.3(ALDH5A1):c.63C>G (p.Gly21=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1498289	NM_001080.3(ALDH5A1):c.71_76dup (p.Leu24_Arg25dup)	ALDH5A1, GPLD1 +1 more	Duplication (inframe_insertion)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2071889	NM_001080.3(ALDH5A1):c.73C>G (p.Arg25Gly)	ALDH5A1, GPLD1 +1 more (R25G)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 2038984	NM_001080.3(ALDH5A1):c.79del (p.Arg27fs)	ALDH5A1, GPLD1 +1 more (R27fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic
Select item 1596933	NM_001080.3(ALDH5A1):c.75C>T (p.Arg25=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 1112924	NM_001080.3(ALDH5A1):c.75C>A (p.Arg25=)	ALDH5A1, GPLD1 +1 more	Single nucleotide variant (synonymous variant)	Succinate-semialdehyde dehydrogenase deficiency	GLikely benign
Select item 3109823	NM_001080.3(ALDH5A1):c.77C>A (p.Pro26His)	ALDH5A1, GPLD1 +1 more (P26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1368215	NM_001080.3(ALDH5A1):c.79C>T (p.Arg27Cys)	ALDH5A1, GPLD1 +1 more (R27C)	Single nucleotide variant (missense variant)	Succinate-semialdehyde dehydrogenase deficiency	GUncertain significance
Select item 848219	NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)	ALDH5A1, GPLD1 +1 more (R27G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506510	NM_001080.3(ALDH5A1):c.85_116del (p.Gly29fs)	ALDH5A1, GPLD1 +1 more (G29fs)	Deletion (frameshift variant)	Succinate-semialdehyde dehydrogenase deficiency	GPathogenic

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