"GeneDx"[submitter] AND "LOC126806211"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 1221998	NM_020458.4(TTC7A):c.518-315A>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259638	NM_020458.4(TTC7A):c.518-124C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239651	NM_020458.4(TTC7A):c.518-120del	LOC126806211, TTC7A	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1186583	NM_020458.4(TTC7A):c.518-88C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791075	NM_020458.4(TTC7A):c.556C>T (p.Arg186Cys)	LOC126806211, TTC7A (R152C +1 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal defects and immunodeficiency syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1278014	NM_020458.4(TTC7A):c.648+72C>T	LOC126806211, TTC7A	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar