ClinVar for MedGen (Select 1950) - 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 375763	NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu)	SMCHD1 (Q400L)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +2 more	GPathogenic
Select item 375760	NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)	SMCHD1 (Q345R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 267805	46;XY;t(7;12)(q21.13;q24)dn		Translocation	Intellectual disability +3 more	GUncertain significance

Format

Sort by

Choose Destination