C1848137[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 701449	NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)	PCDH19 (R1060H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 93673	NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)	LOC125467768, PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +3 more	GBenign/Likely benign
Select item 408902	NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)	LOC125467768, PCDH19 (I734fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 941449	NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)	PCDH19 (R602*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 449356	NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)	PCDH19 (P567L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9 +1 more	GPathogenic/Likely pathogenic
Select item 93671	NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)	PCDH19	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 93670	NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)	PCDH19	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 93678	NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +2 more	GBenign/Likely benign
Select item 93677	NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)	PCDH19	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 9 +3 more	GBenign
Select item 206292	NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser)	PCDH19 (N75S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 93680	NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)	PCDH19	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign