"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522194	NM_020458.4(TTC7A):c.649-10C>T	TTC7A	Single nucleotide variant (intron variant)	Multiple gastrointestinal atresias	GBenign/Likely benign
Select item 458792	NM_020458.4(TTC7A):c.1026C>T (p.Ile342=)	TTC7A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 458793	NM_020458.4(TTC7A):c.1095G>T (p.Val365=)	TTC7A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 528467	NM_020458.4(TTC7A):c.1348G>A (p.Val450Met)	TTC7A (V450M +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias +2 more	GBenign/Likely benign
Select item 528470	NM_020458.4(TTC7A):c.1449G>A (p.Gly483=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias	GLikely benign
Select item 779629	NM_020458.4(TTC7A):c.2085C>G (p.Pro695=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias +1 more	GBenign/Likely benign
Select item 528472	NM_020458.4(TTC7A):c.2211G>A (p.Ala737=)	TTC7A	Single nucleotide variant (synonymous variant)	Multiple gastrointestinal atresias +1 more	GBenign/Likely benign

ClinVar