Related gene-specific medical variations for Gene (Select 7289) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065833	NM_003324.5(TULP3):c.1145G>A (p.Arg382Gln)	TULP3 (R382Q)	Single nucleotide variant (missense variant)	Hepatorenocardiac degenerative fibrosis	GUncertain significance
Select item 1693114	NM_003324.5(TULP3):c.1144C>T (p.Arg382Trp)	TULP3 (R382W)	Single nucleotide variant (missense variant)	Hepatorenocardiac degenerative fibrosis	GPathogenic
Select item 1687113	NM_003324.5:c.(41+1_42-1)_(696+1_697-1)del	TULP3	Deletion	Hepatorenocardiac degenerative fibrosis	GPathogenic

Format

Sort by

Choose Destination