PLD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 1268822	NM_002662.5(PLD1):c.*262A>G	PLD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266999	NM_002662.5(PLD1):c.3186G>A (p.Gly1062=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1702839	NM_002662.5(PLD1):c.3125G>T (p.Gly1042Val)	PLD1 (G1004V +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2582575	NM_002662.5(PLD1):c.3094C>T (p.Arg1032Ter)	PLD1 (R1032* +1 more)	Single nucleotide variant (nonsense)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 775926	NM_002662.5(PLD1):c.3084A>G (p.Glu1028=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 708886	NM_002662.5(PLD1):c.3070G>A (p.Val1024Ile)	PLD1 (V1024I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1412549	NM_002662.5(PLD1):c.3052G>A (p.Asp1018Asn)	PLD1 (D1018N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997351	NM_002662.5(PLD1):c.3036T>C (p.Asn1012=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861204	NM_002662.5(PLD1):c.3009G>A (p.Arg1003=)	PLD1	Single nucleotide variant (synonymous variant)	PLD1-related disorder +1 more	GLikely benign
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 1224136	NM_002662.5(PLD1):c.3001-222A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231101	NM_002662.5(PLD1):c.3000+215A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1707078	NM_002662.5(PLD1):c.2978G>A (p.Arg993Gln)	PLD1 (R955Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 1227644	NM_002662.5(PLD1):c.2883-99A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289142	NM_002662.5(PLD1):c.2883-187G>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274084	NM_002662.5(PLD1):c.2882+93A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226207	NM_002662.5(PLD1):c.2882+88A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426091	NM_002662.5(PLD1):c.2882+2T>C	PLD1	Single nucleotide variant (splice donor variant)	Cardiac valvular defect, developmental	GPathogenic
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 1917562	NM_002662.5(PLD1):c.2867G>A (p.Arg956Gln)	PLD1 (R956Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399260	NM_002662.5(PLD1):c.2864T>C (p.Leu955Pro)	PLD1 (L955P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753438	NM_002662.5(PLD1):c.2852T>A (p.Phe951Tyr)	PLD1 (F913Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 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 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 2264095	NM_002662.5(PLD1):c.2748C>A (p.Asp916Glu)	PLD1 (D878E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1937410	NM_002662.5(PLD1):c.2729-11dup	PLD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1650309	NM_002662.5(PLD1):c.2729-14G>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1910191	NM_002662.5(PLD1):c.2715C>G (p.Asn905Lys)	PLD1 (N867K +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 1211263	NM_002662.5(PLD1):c.2681A>C (p.Tyr894Ser)	PLD1 (Y856S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2251030	NM_002662.5(PLD1):c.2680T>C (p.Tyr894His)	PLD1 (Y894H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1179602	NM_002662.5(PLD1):c.2667A>C (p.Val889=)	PLD1	Single nucleotide variant (synonymous variant)	Cardiac valvular defect, developmental +1 more	GBenign
Select item 1444487	NM_002662.5(PLD1):c.2620T>G (p.Ser874Ala)	PLD1 (S836A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1640864	NM_002662.5(PLD1):c.2594-14T>G	PLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3235803	NM_002662.5(PLD1):c.2593+1G>A	PLD1	Single nucleotide variant (splice donor variant)	Cardiac valvular defect, developmental	GLikely pathogenic
Select item 1558864	NM_002662.5(PLD1):c.2576G>A (p.Gly859Glu)	PLD1 (G821E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1033940	NM_002662.5(PLD1):c.2569A>G (p.Ile857Val)	PLD1 (I819V +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental +1 more	GConflicting classifications of pathogenicity
Select item 1672040	NM_002662.5(PLD1):c.2547C>T (p.Thr849=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039746	NM_002662.5(PLD1):c.2544-8A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266232	NM_002662.5(PLD1):c.2544-253C>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989219	NM_002662.5(PLD1):c.2543+16A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1033939	NM_002662.5(PLD1):c.2543+1G>T	PLD1	Single nucleotide variant (splice donor variant)	Cardiac valvular defect, developmental +1 more	GConflicting classifications of pathogenicity
Select item 2252861	NM_002662.5(PLD1):c.2540A>G (p.Tyr847Cys)	PLD1 (Y847C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208762	NM_002662.5(PLD1):c.2531A>G (p.His844Arg)	PLD1 (H844R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1704369	NM_002662.5(PLD1):c.2500G>A (p.Gly834Ser)	PLD1 (G834S +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental +2 more	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 1259963	NM_002662.5(PLD1):c.2458G>A (p.Val820Met)	PLD1 (V782M +1 more)	Single nucleotide variant (missense variant)	PLD1-related disorder +1 more	GBenign
Select item 1352632	NM_002662.5(PLD1):c.2452T>C (p.Tyr818His)	PLD1 (Y780H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695360	NM_002662.5(PLD1):c.2451A>G (p.Val817=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745571	NM_002662.5(PLD1):c.2439G>A (p.Gln813=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 932457	NM_002662.5(PLD1):c.2430-1G>A	PLD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 3026964	NM_002662.5(PLD1):c.2430-4G>T	PLD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1261059	NM_002662.5(PLD1):c.2430-118C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251568	NM_002662.5(PLD1):c.2430-164T>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040689	NM_002662.5(PLD1):c.2429+6del	PLD1	Deletion (intron 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 2074815	NM_002662.5(PLD1):c.2416del (p.Ile805_Leu806insTer)	PLD1	Deletion (nonsense)	not provided	GPathogenic
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 2267613	NM_002662.5(PLD1):c.2395G>A (p.Asp799Asn)	PLD1 (D761N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305778	NM_002662.5(PLD1):c.2391A>G (p.Ile797Met)	PLD1 (I759M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1600735	NM_002662.5(PLD1):c.2374G>C (p.Val792Leu)	PLD1 (V754L +1 more)	Single nucleotide variant (missense variant)	PLD1-related disorder +1 more	GBenign/Likely benign
Select item 1247511	NM_002662.5(PLD1):c.2341-150T>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233993	NM_002662.5(PLD1):c.2340+313C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1950012	NM_002662.5(PLD1):c.2340+14A>G	PLD1	Single nucleotide variant (intron variant)	not provided	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 2892944	NM_002662.5(PLD1):c.2316C>T (p.Asn772=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2046196	NM_002662.5(PLD1):c.2292C>T (p.Ala764=)	PLD1	Single nucleotide variant (synonymous variant)	PLD1-related disorder +1 more	GLikely benign
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 708887	NM_002662.5(PLD1):c.2289C>T (p.His763=)	PLD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1462497	NM_002662.5(PLD1):c.2248G>A (p.Asp750Asn)	PLD1 (D712N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2278869	NM_002662.5(PLD1):c.2237G>A (p.Arg746His)	PLD1 (R746H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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