C4479549[trait identifier] AND "Department of Paediatrics and Adolesce - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1202596	NM_017799.4(TMEM260):c.193-2A>G	TMEM260	Single nucleotide variant (splice acceptor variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1202597	NM_017799.4(TMEM260):c.1744G>C (p.Glu582Gln)	TMEM260 (E582Q)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic