C1848137[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870350	NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs)	LOC125467768, PCDH19 (S852fs +1 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 813750	NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)	LOC125467768, PCDH19 (S844fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 981482	NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)	PCDH19 (L640P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 206329	NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)	PCDH19 (E414*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 813757	NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)	PCDH19 (S403fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GLikely pathogenic
Select item 620031	NM_001184880.2(PCDH19):c.971del (p.Asn324fs)	PCDH19 (N324fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 813748	NM_001184880.2(PCDH19):c.745del (p.Glu249fs)	PCDH19 (E249fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1264344	NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs)	PCDH19 (S202fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 996747	NM_001184880.2(PCDH19):c.463G>C (p.Asp155His)	PCDH19 (D155H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 619130	NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)	PCDH19 (Y154*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9 +1 more	GPathogenic/Likely pathogenic