"Sema4, Sema4"[submitter] AND "CTRC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1582714	NM_007272.3(CTRC):c.21C>T (p.Leu7=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 292909	NM_007272.3(CTRC):c.216C>T (p.Ala72=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GLikely benign
Select item 439575	NM_007272.3(CTRC):c.640-12G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 240766	NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)	CTRC (E225A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368835	NM_007272.3(CTRC):c.*83T>C	CTRC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1283221	NM_007272.3(CTRC):c.*86A>G	CTRC	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

ClinVar