"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PLCD1"[ - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 762675	NM_006225.4(PLCD1):c.1914G>A (p.Gly638=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 786003	NM_006225.4(PLCD1):c.1854C>T (p.Arg618=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1074942	NM_006225.4(PLCD1):c.1738C>T (p.Gln580Ter)	PLCD1 (Q580* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 733776	NM_006225.4(PLCD1):c.1724-5T>C	PLCD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746748	NM_006225.4(PLCD1):c.1650C>T (p.Ile550=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708751	NM_006225.4(PLCD1):c.1629C>T (p.Asn543=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2064069	NM_006225.4(PLCD1):c.1588C>T (p.Arg530Ter)	PLCD1 (R551* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 789276	NM_006225.4(PLCD1):c.1554C>T (p.Tyr518=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 785038	NM_006225.4(PLCD1):c.1383C>T (p.Asp461=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 785039	NM_006225.4(PLCD1):c.895G>A (p.Gly299Ser)	PLCD1 (G320S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783997	NM_006225.4(PLCD1):c.877C>T (p.Arg293Cys)	PLCD1 (R314C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 738969	NM_006225.4(PLCD1):c.870A>C (p.Ala290=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 729308	NM_006225.4(PLCD1):c.849C>T (p.Asp283=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722257	NM_006225.4(PLCD1):c.797C>T (p.Ala266Val)	PLCD1 (A266V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 783370	NM_006225.4(PLCD1):c.735G>A (p.Ala245=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769602	NM_006225.4(PLCD1):c.666G>A (p.Ala222=)	PLCD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 722576	NM_006225.4(PLCD1):c.239G>A (p.Arg80His)	PLCD1 (R101H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 722932	NM_006225.4(PLCD1):c.35-4000A>G	PLCD1 (N28D)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1373543	NC_000003.11:g.(?_37034542)_(38835501_?)dup	ACAA1, ACVR2B +19 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 830760	NC_000003.12:g.(?_37452365)_(38950372_?)dup	ACVR2B, CTDSPL +15 more	Duplication	Heterotaxy, visceral, 4, autosomal	GUncertain significance
Select item 463218	NC_000003.11:g.(?_37493846)_(38991873_?)del	ACAA1, ACVR2B +15 more	Deletion	Brugada syndrome	GUncertain significance

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Items: 23