ClinVar for Gene (Select 5337) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372251	NM_002662.5(PLD1):c.845T>C (p.Phe282Ser)	PLD1 (F282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367277	NM_002662.5(PLD1):c.1244T>A (p.Ile415Asn)	PLD1 (I415N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347681	NM_002662.5(PLD1):c.879G>A (p.Thr293=)	PLD1	Single nucleotide variant (synonymous variant)	PLD1-related disorder	GLikely benign
Select item 3342192	NM_002662.5(PLD1):c.1436G>T (p.Gly479Val)	PLD1 (G479V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3307411	NM_002662.5(PLD1):c.2401A>G (p.Ile801Val)	PLD1 (I763V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307410	NM_002662.5(PLD1):c.1715A>G (p.His572Arg)	PLD1 (H572R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307409	NM_002662.5(PLD1):c.22C>T (p.Arg8Trp)	PLD1 (R8W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251798	NM_002662.5(PLD1):c.2034del (p.Trp678fs)	PLD1 (W640fs +1 more)	Deletion (frameshift variant)	Cardiac valvular defect, developmental	GPathogenic
Select item 3239271	NM_002662.5(PLD1):c.472C>T (p.Arg158Ter)	PLD1 (R158*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3239237	NM_002662.5(PLD1):c.1978C>T (p.Leu660Phe)	PLD1 (L622F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235803	NM_002662.5(PLD1):c.2593+1G>A	PLD1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3214633	NM_002662.5(PLD1):c.950G>A (p.Arg317Gln)	PLD1 (R317Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214632	NM_002662.5(PLD1):c.89C>G (p.Thr30Arg)	PLD1 (T30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214630	NM_002662.5(PLD1):c.515G>C (p.Arg172Thr)	PLD1 (R172T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214629	NM_002662.5(PLD1):c.268C>T (p.Arg90Cys)	PLD1 (R90C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214628	NM_002662.5(PLD1):c.2481C>G (p.Phe827Leu)	PLD1 (F827L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214627	NM_002662.5(PLD1):c.2389A>G (p.Ile797Val)	PLD1 (I759V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3214626	NM_002662.5(PLD1):c.2322G>C (p.Arg774Ser)	PLD1 (R736S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214625	NM_002662.5(PLD1):c.2135G>A (p.Arg712Gln)	PLD1 (R674Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214624	NM_002662.5(PLD1):c.1961T>A (p.Phe654Tyr)	PLD1 (F616Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214623	NM_002662.5(PLD1):c.1882C>T (p.Arg628Cys)	PLD1 (R590C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214622	NM_002662.5(PLD1):c.1251A>G (p.Ile417Met)	PLD1 (I417M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214620	NM_002662.5(PLD1):c.1177G>T (p.Val393Leu)	PLD1 (V393L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214619	NM_002662.5(PLD1):c.1066G>A (p.Val356Ile)	PLD1 (V356I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068185	NM_002662.5(PLD1):c.1042G>T (p.Glu348Ter)	PLD1 (E348*)	Single nucleotide variant (nonsense)	Cardiac valvular defect, developmental	GUncertain significance
Select item 3043004	NM_002662.5(PLD1):c.1299C>T (p.Tyr433=)	PLD1	Single nucleotide variant (synonymous variant)	PLD1-related disorder	GLikely benign
Select item 3040790	NM_002662.5(PLD1):c.2429+4del	PLD1	Deletion (intron variant)	PLD1-related disorder	GLikely benign
Select item 3040689	NM_002662.5(PLD1):c.2429+6del	PLD1	Deletion (intron variant)	PLD1-related disorder	GLikely benign
Select item 3039085	NM_002662.5(PLD1):c.1959C>T (p.Val653=)	PLD1	Single nucleotide variant (synonymous variant)	PLD1-related disorder	GLikely benign
Select item 3026964	NM_002662.5(PLD1):c.2430-4G>T	PLD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021429	NM_002662.5(PLD1):c.666-16T>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2997351	NM_002662.5(PLD1):c.3036T>C (p.Asn1012=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973340	NM_002662.5(PLD1):c.1146-7G>T	PLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963398	NM_002662.5(PLD1):c.786A>G (p.Leu262=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903572	NM_002662.5(PLD1):c.2178del (p.Ala727fs)	PLD1 (A689fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2898086	NM_002662.5(PLD1):c.15C>T (p.Asn5=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892944	NM_002662.5(PLD1):c.2316C>T (p.Asn772=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889578	NM_002662.5(PLD1):c.1145+8T>C	PLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861204	NM_002662.5(PLD1):c.3009G>A (p.Arg1003=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854792	NM_002662.5(PLD1):c.3082G>A (p.Glu1028Lys)	PLD1 (E990K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835444	NM_002662.5(PLD1):c.2832A>G (p.Lys944=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722110	NM_002662.5(PLD1):c.2768G>A (p.Arg923His)	PLD1 (R885H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2716110	NM_002662.5(PLD1):c.528C>T (p.Phe176=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695360	NM_002662.5(PLD1):c.2451A>G (p.Val817=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671754	NM_002662.5(PLD1):c.3000+2T>A	PLD1	Single nucleotide variant (splice donor variant)	Cardiac valvular defect, developmental	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2662041	NM_002662.5(PLD1):c.2225T>G (p.Val742Gly)	PLD1 (V704G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654278	NM_002662.5(PLD1):c.2436C>G (p.Asn812Lys)	PLD1 (N774K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654277	NM_002662.5(PLD1):c.2681A>G (p.Tyr894Cys)	PLD1 (Y856C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634209	NM_002662.5(PLD1):c.2236C>T (p.Arg746Cys)	PLD1 (R708C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2632123	NM_002662.5(PLD1):c.385G>A (p.Glu129Lys)	PLD1 (E129K)	Single nucleotide variant (missense variant)	PLD1-related disorder	GUncertain significance
Select item 2628816	NM_002662.5(PLD1):c.2750G>A (p.Arg917His)	PLD1 (R879H +1 more)	Single nucleotide variant (missense variant)	PLD1-related disorder	GUncertain significance
Select item 2601315	NM_002662.5(PLD1):c.1387C>T (p.His463Tyr)	PLD1 (H463Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582575	NM_002662.5(PLD1):c.3094C>T (p.Arg1032Ter)	PLD1 (R1032* +1 more)	Single nucleotide variant (nonsense)	Cardiac valvular defect, developmental +1 more	GConflicting classifications of pathogenicity
Select item 2582520	NM_002662.5(PLD1):c.1403T>A (p.Val468Asp)	PLD1 (V468D)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 2561116	NM_002662.5(PLD1):c.2293G>A (p.Ala765Thr)	PLD1 (A727T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559106	NM_002662.5(PLD1):c.2398G>A (p.Ala800Thr)	PLD1 (A762T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555913	NM_002662.5(PLD1):c.679A>G (p.Met227Val)	PLD1 (M227V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551323	NM_002662.5(PLD1):c.2727T>G (p.Ile909Met)	PLD1 (I909M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538918	NM_002662.5(PLD1):c.3008G>A (p.Arg1003Gln)	PLD1 (R1003Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538184	NM_002662.5(PLD1):c.764T>C (p.Leu255Ser)	PLD1 (L255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535574	NM_002662.5(PLD1):c.2834A>G (p.Glu945Gly)	PLD1 (E907G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523760	NM_002662.5(PLD1):c.1333A>G (p.Ile445Val)	PLD1 (I445V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511537	NM_002662.5(PLD1):c.808G>A (p.Gly270Ser)	PLD1 (G270S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507533	NM_002662.5(PLD1):c.1823A>G (p.His608Arg)	PLD1 (H608R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2507100	NM_002662.5(PLD1):c.2150C>T (p.Pro717Leu)	PLD1 (P679L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500481	NM_002662.5(PLD1):c.2084G>A (p.Arg695His)	PLD1 (R657H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499180	NM_002662.5(PLD1):c.2106C>A (p.Asn702Lys)	PLD1 (N664K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495373	NM_002662.5(PLD1):c.3095G>A (p.Arg1032Gln)	PLD1 (R994Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489095	NM_002662.5(PLD1):c.486T>A (p.Ser162Arg)	PLD1 (S162R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488864	NM_002662.5(PLD1):c.1558A>G (p.Met520Val)	PLD1 (M520V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482926	NM_002662.5(PLD1):c.2873A>G (p.Gln958Arg)	PLD1 (Q920R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475420	NM_002662.5(PLD1):c.916C>T (p.Leu306Phe)	PLD1 (L306F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469369	NM_002662.5(PLD1):c.962G>A (p.Gly321Glu)	PLD1 (G321E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460572	NM_002662.5(PLD1):c.2849G>A (p.Arg950Gln)	PLD1 (R950Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457299	NM_002662.5(PLD1):c.149A>G (p.Lys50Arg)	PLD1 (K50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445423	NM_002662.5(PLD1):c.1062-2A>T	PLD1	Single nucleotide variant (splice acceptor variant)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 2441876	NM_002662.5(PLD1):c.2602C>T (p.Gln868Ter)	PLD1 (Q830* +1 more)	Single nucleotide variant (nonsense)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 2434926	NM_002662.5(PLD1):c.280A>G (p.Thr94Ala)	PLD1 (T94A)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental	GUncertain significance
Select item 2434925	NM_002662.5(PLD1):c.2134C>T (p.Arg712Trp)	PLD1 (R674W +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental	GUncertain significance
Select item 2434924	NM_002662.5(PLD1):c.2284A>G (p.Ile762Val)	PLD1 (I724V +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental	GUncertain significance
Select item 2424514	NC_000003.11:g.(?_171376983)_(171417636_?)dup	PLD1	Duplication	not provided	GUncertain significance
Select item 2424512	NC_000003.11:g.(?_171376983)_(171410252_?)del	PLD1	Deletion	not provided	GPathogenic
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2420569	NM_002662.5(PLD1):c.2890C>T (p.Leu964Phe)	PLD1 (L926F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2407030	NM_002662.5(PLD1):c.440C>T (p.Thr147Met)	PLD1 (T147M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406958	NM_002662.5(PLD1):c.3141C>G (p.Phe1047Leu)	PLD1 (F1009L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2384810	NM_002662.5(PLD1):c.676A>G (p.Ile226Val)	PLD1 (I226V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367894	NM_002662.5(PLD1):c.3122G>A (p.Arg1041His)	PLD1 (R1003H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357213	NM_002662.5(PLD1):c.2848C>T (p.Arg950Trp)	PLD1 (R950W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345272	NM_002662.5(PLD1):c.2018C>T (p.Thr673Met)	PLD1 (T673M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2338756	NM_002662.5(PLD1):c.965C>A (p.Ala322Asp)	PLD1 (A322D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324052	NM_002662.5(PLD1):c.740G>A (p.Cys247Tyr)	PLD1 (C247Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319803	NM_002662.5(PLD1):c.1564T>A (p.Ser522Thr)	PLD1 (S522T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315071	NM_002662.5(PLD1):c.2290G>A (p.Ala764Thr)	PLD1 (A764T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2313253	NM_002662.5(PLD1):c.1318C>G (p.Arg440Gly)	PLD1 (R440G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305214	NM_002662.5(PLD1):c.884A>G (p.Tyr295Cys)	PLD1 (Y295C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290179	NM_002662.5(PLD1):c.1943A>G (p.Asp648Gly)	PLD1 (D610G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289713	NM_002662.5(PLD1):c.2984C>T (p.Ala995Val)	PLD1 (A957V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281203	NM_002662.5(PLD1):c.1193G>A (p.Arg398His)	PLD1 (R398H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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