"Ambry Genetics"[submitter] AND "GPLD1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2265707	NM_001503.4(GPLD1):c.2488G>A (p.Gly830Arg)	GPLD1 (G830R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356648	NM_001503.4(GPLD1):c.2486C>G (p.Ser829Cys)	GPLD1 (S829C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373130	NM_001503.4(GPLD1):c.2312T>C (p.Met771Thr)	GPLD1 (M771T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377993	NM_001503.4(GPLD1):c.2294A>G (p.Glu765Gly)	GPLD1 (E765G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215566	NM_001503.4(GPLD1):c.2183A>G (p.Asp728Gly)	GPLD1 (D728G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233216	NM_001503.4(GPLD1):c.2140C>T (p.Arg714Cys)	GPLD1 (R714C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545801	NM_001503.4(GPLD1):c.2078G>A (p.Arg693His)	GPLD1 (R693H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370716	NM_001503.4(GPLD1):c.2050G>A (p.Val684Met)	GPLD1 (V684M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2355182	NM_001503.4(GPLD1):c.1946C>T (p.Thr649Ile)	GPLD1 (T649I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205166	NM_001503.4(GPLD1):c.1844G>A (p.Arg615Gln)	GPLD1 (R615Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399773	NM_001503.4(GPLD1):c.1777A>C (p.Thr593Pro)	GPLD1 (T593P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232310	NM_001503.4(GPLD1):c.1751T>G (p.Leu584Arg)	GPLD1 (L584R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326273	NM_001503.4(GPLD1):c.1684C>G (p.Leu562Val)	GPLD1 (L562V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260715	NM_001503.4(GPLD1):c.1604C>G (p.Pro535Arg)	GPLD1 (P535R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535543	NM_001503.4(GPLD1):c.1420G>A (p.Val474Met)	GPLD1 (V474M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540123	NM_001503.4(GPLD1):c.1378A>G (p.Asn460Asp)	GPLD1 (N460D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517282	NM_001503.4(GPLD1):c.1346G>A (p.Arg449Gln)	GPLD1 (R449Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484255	NM_001503.4(GPLD1):c.1300G>A (p.Asp434Asn)	GPLD1 (D434N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470330	NM_001503.4(GPLD1):c.1195G>A (p.Val399Met)	GPLD1 (V399M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391482	NM_001503.4(GPLD1):c.1153A>G (p.Met385Val)	GPLD1 (M385V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526467	NM_001503.4(GPLD1):c.1093G>A (p.Val365Ile)	GPLD1 (V365I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522611	NM_001503.4(GPLD1):c.1028A>G (p.Tyr343Cys)	GPLD1 (Y343C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283817	NM_001503.4(GPLD1):c.883C>A (p.Gln295Lys)	GPLD1 (Q295K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548811	NM_001503.4(GPLD1):c.865G>A (p.Gly289Ser)	GPLD1 (G289S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399741	NM_001503.4(GPLD1):c.778A>G (p.Asn260Asp)	GPLD1 (N260D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268901	NM_001503.4(GPLD1):c.542G>A (p.Arg181His)	GPLD1 (R181H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2554247	NM_001503.4(GPLD1):c.404T>C (p.Leu135Pro)	GPLD1 (L135P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292802	NM_001503.4(GPLD1):c.335C>T (p.Thr112Ile)	GPLD1 (T112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270519	NM_001503.4(GPLD1):c.263A>G (p.His88Arg)	GPLD1 (H88R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312287	NM_001503.4(GPLD1):c.250T>C (p.Ser84Pro)	GPLD1 (S84P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233297	NM_001503.4(GPLD1):c.220A>G (p.Ile74Val)	GPLD1 (I74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513804	NM_001503.4(GPLD1):c.176C>T (p.Ala59Val)	GPLD1 (A59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527052	NM_001503.4(GPLD1):c.136C>T (p.Arg46Cys)	GPLD1 (R46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216496	NM_001503.4(GPLD1):c.89T>G (p.Val30Gly)	GPLD1 (V30G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 284542	NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu)	ALDH5A1, GPLD1 +1 more (S17L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 952923	NM_001080.3(ALDH5A1):c.115C>G (p.Pro39Ala)	ALDH5A1, GPLD1 +1 more (P39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2404696	NM_001080.3(ALDH5A1):c.128A>C (p.Gln43Pro)	ALDH5A1, GPLD1 +1 more (Q43P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 499425	NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile)	LOC129995978, ALDH5A1 +1 more (S63I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2210589	NM_001080.3(ALDH5A1):c.205T>G (p.Trp69Gly)	ALDH5A1, GPLD1 +1 more (W69G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226359	NM_001080.3(ALDH5A1):c.223A>C (p.Thr75Pro)	ALDH5A1, GPLD1 +1 more (T75P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 40