ClinVar for MedGen (Select 452348) - 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 523383	NM_000969.5(RPL5):c.74-1G>C	DIPK1A, RPL5	Single nucleotide variant (splice acceptor variant +1 more)	Aplastic anemia +16 more	GPathogenic
Select item 267801	46;X;t(X;8;2)(Xpter>Xq21.2::2q14.2>2qter;8qter>8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)dn		Translocation	3-4 toe syndactyly +6 more	GUncertain significance