ClinVar for MedGen (Select 163408) - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805790	NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)	ST3GAL3 (R173C +14 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 12	GLikely pathogenic
Select item 691768	NM_133443.4(GPT2):c.266A>G (p.Glu89Gly)	GPT2 (E89G)	Single nucleotide variant (5 prime UTR variant +1 more)	Frequent falls +3 more	GUncertain significance
Select item 268023	46;X;t(X;21)(q26.1;q21.22)dn		Translocation	Delayed speech and language development +15 more	GUncertain significance

Format

Sort by

Choose Destination

ClinVar