C5680044[trait identifier] AND "Institute of Human Genetics, Universit - 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 242606	NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)	TTC7A (K606R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal defects and immunodeficiency syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 242605	NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)	TTC7A (S672P +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal defects and immunodeficiency syndrome 1 +4 more	GConflicting classifications of pathogenicity