ClinVar for MedGen (Select 853666) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn		Translocation	Oligohydramnios +29 more	GPathogenic
Select item 267834	46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn		Translocation	Atrial septal defect, ostium secundum type +18 more	GLikely pathogenic
Select item 5664	NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)	SPAST (D441G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

Format

Sort by

Choose Destination