"PRKCD-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 791076	NM_006254.4(PRKCD):c.315+9C>A	PRKCD	Single nucleotide variant (intron variant)	PRKCD-related disorder +1 more	GBenign/Likely benign
Select item 750676	NM_006254.4(PRKCD):c.315+10G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +1 more	GLikely benign
Select item 3051635	NM_006254.4(PRKCD):c.495C>T (p.Phe165=)	PRKCD	Single nucleotide variant (synonymous variant)	PRKCD-related disorder	GLikely benign
Select item 755612	NM_006254.4(PRKCD):c.915C>T (p.Ala305=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +1 more	GLikely benign
Select item 474764	NM_006254.4(PRKCD):c.1176G>A (p.Glu392=)	PRKCD	Single nucleotide variant (synonymous variant)	PRKCD-related disorder +1 more	GLikely benign
Select item 474765	NM_006254.4(PRKCD):c.1260+6C>T	PRKCD	Single nucleotide variant (intron variant)	PRKCD-related disorder +1 more	GBenign/Likely benign
Select item 726735	NM_006254.4(PRKCD):c.1500C>T (p.Phe500=)	PRKCD	Single nucleotide variant (synonymous variant)	PRKCD-related disorder +1 more	GLikely benign
Select item 716710	NM_006254.4(PRKCD):c.1554+8G>A	PRKCD	Single nucleotide variant (intron variant)	PRKCD-related disorder +1 more	GBenign
Select item 3061566	NM_006254.4(PRKCD):c.1614G>A (p.Leu538=)	PRKCD	Single nucleotide variant (synonymous variant)	PRKCD-related disorder	GLikely benign