C3887898[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198157	NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	STXBP1 (R122* +2 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +10 more	GPathogenic
Select item 523440	NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile)	DYNC1H1 (M3310I)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GUncertain significance
Select item 50031	NM_000548.5(TSC2):c.4662+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Lymphangiomyomatosis +3 more	GPathogenic

Format

Sort by

Choose Destination

ClinVar