"GeneDx"[submitter] AND "PLD1"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 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 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 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 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 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 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 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 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 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 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 1266232	NM_002662.5(PLD1):c.2544-253C>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1033939	NM_002662.5(PLD1):c.2543+1G>T	PLD1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1259963	NM_002662.5(PLD1):c.2458G>A (p.Val820Met)	PLD1 (V782M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 1227816	NM_002662.5(PLD1):c.2230-214C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1245583	NM_002662.5(PLD1):c.2115+173del	PLD1	Deletion (intron variant)	not provided	GBenign
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 1310434	NM_002662.5(PLD1):c.2098C>T (p.Arg700Cys)	PLD1 (R662C +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 1222338	NM_002662.5(PLD1):c.1997-202G>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261759	NM_002662.5(PLD1):c.1996+331C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231532	NM_002662.5(PLD1):c.1996+76A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289108	NM_002662.5(PLD1):c.1996+33T>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309145	NM_002662.5(PLD1):c.1982A>T (p.Asp661Val)	PLD1 (D623V +1 more)	Single nucleotide variant (missense variant)	Cardiac valvular defect, developmental +1 more	GUncertain significance
Select item 1306848	NM_002662.5(PLD1):c.1981G>C (p.Asp661His)	PLD1 (D623H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276405	NM_002662.5(PLD1):c.1884T>C (p.Arg628=)	PLD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1269634	NM_002662.5(PLD1):c.1864G>T (p.Ala622Ser)	PLD1 (A622S)	Single nucleotide variant (missense variant +1 more)	Cardiac valvular defect, developmental +1 more	GBenign
Select item 1246670	NM_002662.5(PLD1):c.1540-50C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305896	NM_002662.5(PLD1):c.1416del (p.Gln472fs)	PLD1 (Q472fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1702537	NM_002662.5(PLD1):c.1352C>T (p.Pro451Leu)	PLD1 (P451L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237392	NM_002662.5(PLD1):c.1339-154G>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1231845	NM_002662.5(PLD1):c.1228-257G>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233379	NM_002662.5(PLD1):c.1228-294C>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253444	NM_002662.5(PLD1):c.1228-325G>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272644	NM_002662.5(PLD1):c.1146-228GA[13]	PLD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1255153	NM_002662.5(PLD1):c.1062-133C>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268736	NM_002662.5(PLD1):c.912-46A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276101	NM_002662.5(PLD1):c.912-82G>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1244374	NM_002662.5(PLD1):c.758+195G>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288831	NM_002662.5(PLD1):c.758+99A>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1587784	NM_002662.5(PLD1):c.709G>T (p.Gly237Cys)	PLD1 (G237C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1271490	NM_002662.5(PLD1):c.666-57G>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280254	NM_002662.5(PLD1):c.666-173del	PLD1	Deletion (intron variant)	not provided	GBenign
Select item 1269915	NM_002662.5(PLD1):c.666-196C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279242	NM_002662.5(PLD1):c.665+211C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245742	NM_002662.5(PLD1):c.665+201G>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178842	NM_002662.5(PLD1):c.665+73C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313339	NM_002662.5(PLD1):c.607-2A>C	PLD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1227688	NM_002662.5(PLD1):c.607-89A>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241311	NM_002662.5(PLD1):c.607-113T>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247498	NM_002662.5(PLD1):c.540+256T>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295123	NM_002662.5(PLD1):c.540+252A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253013	NM_002662.5(PLD1):c.540+219C>A	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265925	NM_002662.5(PLD1):c.540+10T>C	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179385	NM_002662.5(PLD1):c.289-224C>T	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286604	NM_002662.5(PLD1):c.288+134A>G	PLD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 74