C3553762[trait identifier] AND "Institute of Human Genetics, Cologne U - 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 1700017	NM_003238.6(TGFB2):c.932+4A>G	TGFB2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 4	GUncertain significance
Select item 545671	NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)	TGFB2 (C411S +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 4	GUncertain significance