"Sema4, Sema4"[submitter] AND "LOC111674463"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1144671	NM_000492.3(CFTR):c.-1043dup	CFTR, LOC111674463	Duplication	Cystic fibrosis +2 more	GConflicting classifications of pathogenicity
Select item 189027	NM_000492.3(CFTR):c.-461A>G	CFTR, LOC111674463	Single nucleotide variant	Hereditary pancreatitis +3 more	GConflicting classifications of pathogenicity
Select item 237853	NM_000492.3(CFTR):c.-288G>C	CFTR, LOC111674463	Single nucleotide variant	Hereditary pancreatitis +3 more	GBenign/Likely benign
Select item 93148	NM_000492.4(CFTR):c.-8G>C	CFTR, LOC111674463	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign/Likely benign

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