"GeneDx"[submitter] AND "LOC129933677"[gene] - ClinVar

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	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 1268387	NM_001288953.2(TTC7A):c.83-9432A>G	LOC129933677, MCFD2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274211	NM_020458.3(TTC7A):c.-354C>A	TTC7A, LOC129933677 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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