"GeneDx"[submitter] AND "IFT46"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1257685	NC_000011.10:g.118572359dup	ARCN1, IFT46	Duplication	not provided	GBenign
Select item 1229114	NC_000011.10:g.118572348G>C	ARCN1, IFT46	Single nucleotide variant	not provided	GBenign
Select item 1273616	NC_000011.10:g.118572359del	ARCN1, IFT46	Deletion	not provided	GBenign
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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