"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2058960	NM_006254.4(PRKCD):c.339G>A (p.Lys113=)	LOC129936895, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1420228	NM_006254.4(PRKCD):c.340G>C (p.Val114Leu)	LOC129936895, PRKCD (V130L +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2734365	NM_006254.4(PRKCD):c.343T>C (p.Leu115=)	LOC129936895, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2962824	NM_006254.4(PRKCD):c.360T>C (p.Tyr120=)	PRKCD, LOC129936895	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 779593	NM_006254.4(PRKCD):c.372C>T (p.Asp124=)	LOC129936895, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 853731	NM_006254.4(PRKCD):c.373G>A (p.Val125Met)	LOC129936895, PRKCD (V125M +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1358064	NM_006254.4(PRKCD):c.376G>T (p.Asp126Tyr)	LOC129936895, PRKCD (D142Y +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1398667	NM_006254.4(PRKCD):c.376+6A>G	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1563139	NM_006254.4(PRKCD):c.376+9T>C	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2059017	NM_006254.4(PRKCD):c.376+12C>T	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1661319	NM_006254.4(PRKCD):c.376+13T>G	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2766705	NM_006254.4(PRKCD):c.376+15G>T	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2176586	NM_006254.4(PRKCD):c.376+16G>T	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GBenign