PLD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2736892	NM_012268.4(PLD3):c.17T>G (p.Met6Arg)	PLD3 (M6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879438	NM_012268.4(PLD3):c.25dup (p.Glu9fs)	PLD3 (E9fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3000650	NM_012268.4(PLD3):c.27+3A>G	PLD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2842453	NM_012268.4(PLD3):c.27+15G>T	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012234	NM_012268.4(PLD3):c.28C>G (p.Leu10Val)	PLD3 (L10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046314	NM_012268.4(PLD3):c.45G>A (p.Glu15=)	PLD3	Single nucleotide variant (synonymous variant)	PLD3-related disorder	GLikely benign
Select item 2525755	NM_012268.4(PLD3):c.50C>T (p.Pro17Leu)	PLD3 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2046284	NM_012268.4(PLD3):c.51C>T (p.Pro17=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2175370	NM_012268.4(PLD3):c.52G>A (p.Ala18Thr)	PLD3 (A18T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897729	NM_012268.4(PLD3):c.77T>C (p.Ile26Thr)	PLD3 (I26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683500	NM_012268.4(PLD3):c.79G>A (p.Glu27Lys)	PLD3 (E27K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410185	NM_012268.4(PLD3):c.83C>T (p.Ala28Val)	PLD3 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2694880	NM_012268.4(PLD3):c.102G>A (p.Lys34=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1992157	NM_012268.4(PLD3):c.102+11T>G	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871364	NM_012268.4(PLD3):c.102+17_102+22del	PLD3	Deletion (intron variant)	not provided	GLikely benign
Select item 1917763	NM_012268.4(PLD3):c.103-17CCT[2]	PLD3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1954147	NM_012268.4(PLD3):c.103-11C>T	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3214647	NM_012268.4(PLD3):c.115G>A (p.Val39Ile)	PLD3 (V39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3003020	NM_012268.4(PLD3):c.118C>T (p.Leu40=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894191	NM_012268.4(PLD3):c.129C>T (p.Leu43=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196427	NM_012268.4(PLD3):c.150C>T (p.Phe50=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232196	NM_012268.4(PLD3):c.164C>T (p.Thr55Ile)	PLD3 (T55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2800108	NM_012268.4(PLD3):c.165T>C (p.Thr55=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988701	NM_012268.4(PLD3):c.186C>T (p.Tyr62=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046591	NM_012268.4(PLD3):c.187G>A (p.Gly63Ser)	PLD3 (G63S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2068317	NM_012268.4(PLD3):c.189C>T (p.Gly63=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782185	NM_012268.4(PLD3):c.199C>T (p.Leu67Phe)	PLD3 (L67F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906878	NM_012268.4(PLD3):c.218G>C (p.Arg73Pro)	PLD3 (R73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168601	NM_012268.4(PLD3):c.220C>T (p.Pro74Ser)	PLD3 (P74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055115	NM_012268.4(PLD3):c.226C>G (p.Pro76Ala)	PLD3 (P76A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2270104	NM_012268.4(PLD3):c.232T>C (p.Tyr78His)	PLD3 (Y78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2173507	NM_012268.4(PLD3):c.245+7G>T	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997738	NM_012268.4(PLD3):c.245+12G>T	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987545	NM_012268.4(PLD3):c.246-5C>A	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191676	NM_012268.4(PLD3):c.246-5C>T	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2143700	NM_012268.4(PLD3):c.246-5C>G	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966787	NM_012268.4(PLD3):c.246-4C>G	PLD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2286840	NM_012268.4(PLD3):c.290A>G (p.Asn97Ser)	PLD3 (N97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081582	NM_012268.4(PLD3):c.341C>T (p.Ala114Val)	PLD3 (A114V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3307427	NM_012268.4(PLD3):c.343G>A (p.Gly115Ser)	PLD3 (G115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605104	NM_012268.4(PLD3):c.347C>T (p.Ala116Val)	PLD3 (A116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649875	NM_012268.4(PLD3):c.348G>A (p.Ala116=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2250512	NM_012268.4(PLD3):c.401C>A (p.Thr134Asn)	PLD3 (T134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2160088	NM_012268.4(PLD3):c.408G>A (p.Thr136=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511405	NM_012268.4(PLD3):c.410A>G (p.Gln137Arg)	PLD3 (Q137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2413985	NM_012268.4(PLD3):c.430-15C>G	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2044702	NM_012268.4(PLD3):c.430-5C>T	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1995573	NM_012268.4(PLD3):c.430-5C>G	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2906332	NM_012268.4(PLD3):c.430-4G>T	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2042186	NM_012268.4(PLD3):c.430-4G>A	MIR6796, PLD3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1956439	NM_012268.4(PLD3):c.440T>C (p.Val147Ala)	PLD3 (V147A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2043811	NM_012268.4(PLD3):c.471G>A (p.Lys157=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2054536	NM_012268.4(PLD3):c.475G>A (p.Val159Met)	PLD3 (V159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887550	NM_012268.4(PLD3):c.481G>A (p.Val161Ile)	PLD3 (V161I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054549	NM_012268.4(PLD3):c.489C>G (p.Ile163Met)	PLD3 (I163M)	Single nucleotide variant (missense variant)	PLD3-related disorder	GLikely benign
Select item 2835746	NM_012268.4(PLD3):c.506G>C (p.Ser169Thr)	PLD3 (S169T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901813	NM_012268.4(PLD3):c.531G>T (p.Leu177=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3214652	NM_012268.4(PLD3):c.542T>G (p.Leu181Arg)	PLD3 (L181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1914377	NM_012268.4(PLD3):c.549C>T (p.Ser183=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2805762	NM_012268.4(PLD3):c.550+3G>A	PLD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1968296	NM_012268.4(PLD3):c.550+11del	PLD3	Deletion (intron variant)	not provided	GBenign
Select item 1956430	NM_012268.4(PLD3):c.550+10G>A	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962054	NM_012268.4(PLD3):c.550+16A>G	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906357	NM_012268.4(PLD3):c.551-19C>T	PLD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989644	NM_012268.4(PLD3):c.551-13C>T	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3307426	NM_012268.4(PLD3):c.576G>A (p.Met192Ile)	PLD3 (M192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2905443	NM_012268.4(PLD3):c.595G>A (p.Val199Ile)	PLD3 (V199I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705294	NM_012268.4(PLD3):c.602A>T (p.His201Leu)	PLD3 (H201L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 46	GUncertain significance
Select item 2005713	NM_012268.4(PLD3):c.606C>T (p.Thr202=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983041	NM_012268.4(PLD3):c.615G>A (p.Trp205Ter)	PLD3 (W205*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia 46	GUncertain significance
Select item 2354161	NM_012268.4(PLD3):c.628A>G (p.Thr210Ala)	PLD3 (T210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1967353	NM_012268.4(PLD3):c.651C>T (p.Ala217=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044348	NM_012268.4(PLD3):c.655A>G (p.Met219Val)	PLD3 (M219V)	Single nucleotide variant (missense variant)	PLD3-related disorder	GUncertain significance
Select item 2736893	NM_012268.4(PLD3):c.665G>A (p.Arg222His)	PLD3 (R222H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960515	NM_012268.4(PLD3):c.678+16G>A	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 120224	NM_012268.4(PLD3):c.694G>A (p.Val232Met)	PLD3 (V232M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2182805	NM_012268.4(PLD3):c.696G>C (p.Val232=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921879	NM_012268.4(PLD3):c.707A>G (p.Asn236Ser)	PLD3 (N236S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062803	NM_012268.4(PLD3):c.724C>G (p.Arg242Gly)	PLD3 (R242G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141180	NM_012268.4(PLD3):c.725G>A (p.Arg242Gln)	PLD3 (R242Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821320	NM_012268.4(PLD3):c.734C>T (p.Thr245Ile)	PLD3 (T245I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957240	NM_012268.4(PLD3):c.734C>A (p.Thr245Asn)	PLD3 (T245N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110501	NM_012268.4(PLD3):c.765C>A (p.Gly255=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217486	NM_012268.4(PLD3):c.779C>G (p.Ser260Cys)	PLD3 (S260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1914105	NM_012268.4(PLD3):c.788C>T (p.Ser263Leu)	LOC121852988, PLD3 (S263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885616	NM_012268.4(PLD3):c.814C>T (p.Arg272Cys)	LOC121852988, PLD3 (R272C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686093	NM_012268.4(PLD3):c.851A>G (p.Asn284Ser)	LOC121852988, PLD3 (N284S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1952630	NM_012268.4(PLD3):c.877G>A (p.Ala293Thr)	LOC121852988, PLD3 (A293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908297	NM_012268.4(PLD3):c.879G>A (p.Ala293=)	LOC121852988, PLD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2106010	NM_012268.4(PLD3):c.880-13C>A	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779312	NM_012268.4(PLD3):c.880-9C>T	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985142	NM_012268.4(PLD3):c.880-8G>A	PLD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878316	NM_012268.4(PLD3):c.881G>C (p.Ser294Thr)	PLD3 (S294T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060536	NM_012268.4(PLD3):c.899G>A (p.Cys300Tyr)	PLD3 (C300Y)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2089619	NM_012268.4(PLD3):c.912C>T (p.Arg304=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446268	NM_012268.4(PLD3):c.923T>C (p.Leu308Pro)	PLD3 (L308P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 46	GUncertain significance
Select item 1965132	NM_012268.4(PLD3):c.930T>C (p.Ala310=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860891	NM_012268.4(PLD3):c.936C>T (p.Leu312=)	PLD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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