"Baylor Genetics"[submitter] AND "TTC7A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190395	NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	TTC7A (E71K +1 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal defect and immunodeficiency syndrome +1 more	GConflicting classifications of pathogenicity
Select item 572873	NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile)	TTC7A (V363I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 642279	NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)	TTC7A (L124P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029304	NM_020458.4(TTC7A):c.1919+869C>T	TTC7A (Q652*)	Single nucleotide variant (nonsense +1 more)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1032842	NM_020458.4(TTC7A):c.2105G>A (p.Gly702Asp)	TTC7A (G348D +3 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 828027	NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)	TTC7A (A478V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar