ClinVar for MedGen (Select 42455) - 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 2571623	NM_003112.5(SP4):c.90dup (p.Asn31Ter)	SP4 (N14* +1 more)	Duplication (nonsense +2 more)	Attention deficit hyperactivity disorder +5 more	GUncertain significance
Select item 267841	46;XX;t(7;13)(p13;q34)dn		Translocation	Downslanted palpebral fissures +18 more	GPathogenic