C0014544[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14278	NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	MTR (P1173L +2 more)	Single nucleotide variant (missense variant)	MTR-related disorder +4 more	GPathogenic
Select item 692025	NM_001353345.2(SETD1B):c.1526_1527del (p.Glu509fs)	SETD1B (E509fs)	Deletion (frameshift variant)	Epilepsy	GLikely pathogenic
Select item 206364	NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)	PCDH19 (N340S)	Single nucleotide variant (missense variant)	PCDH19-related epilepsy syndrome +4 more	GPathogenic

Format

Sort by

Choose Destination