"Revvity Omics, Revvity"[submitter] AND "PCDH19"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 852688	NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)	PCDH19 (R1094C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 655932	NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)	PCDH19 (R1044C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2434606	NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)	PCDH19 (P1020R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1324858	NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs)	PCDH19 (S1015fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2434605	NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn)	PCDH19 (D1001N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1482897	NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His)	PCDH19 (N834H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 856452	NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)	LOC125467768, PCDH19 (F853L +1 more)	Single nucleotide variant (missense variant)	PCDH19-related disorder +1 more	GUncertain significance
Select item 2434607	NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)	PCDH19 (I710M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 2434602	NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)	PCDH19 (G686S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 380283	NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met)	PCDH19 (I552M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1324859	NM_001184880.2(PCDH19):c.1556del (p.Arg519fs)	PCDH19 (R519fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 2689669	NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)	PCDH19 (P363T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 206321	NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	PCDH19 (N232S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1324857	NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter)	PCDH19 (Y204*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 2434604	NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)	PCDH19 (T17M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance