Related gene-specific medical variations for Gene (Select 11330) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681027	NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)	CTRC (S16I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2428696	NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)	CTRC (C155Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely pathogenic
Select item 2428662	NM_007272.3(CTRC):c.357-3C>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 995684	NM_007272.3(CTRC):c.493+38G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 995679	NM_007272.3(CTRC):c.793-42G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GBenign
Select item 994374	NM_007272.3(CTRC):c.640-40G>C	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 994092	NM_007272.3(CTRC):c.40+18G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 994021	NM_007272.3(CTRC):c.793-45G>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GBenign
Select item 994018	NM_007272.3(CTRC):c.716C>T (p.Ser239Phe)	CTRC (S239F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 993960	NM_007272.3(CTRC):c.639+45A>G	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 811708	NM_007272.3(CTRC):c.357-44C>G	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GBenign
Select item 811608	NM_007272.3(CTRC):c.747G>T (p.Pro249=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 810964	NM_007272.3(CTRC):c.249T>C (p.Arg83=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 810961	NM_007272.3(CTRC):c.40+24G>A	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 618055	NM_007272.3(CTRC):c.752T>C (p.Val251Ala)	CTRC (V251A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618053	NM_007272.3(CTRC):c.696T>C (p.Phe232=)	CTRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 439573	NM_007272.3(CTRC):c.640-40G>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 439570	NM_007272.3(CTRC):c.640-34del	CTRC	Deletion (intron variant)	Hereditary pancreatitis	GBenign
Select item 439568	NM_007272.3(CTRC):c.640-41G>T	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign
Select item 439566	NM_007272.3(CTRC):c.640-42G>C	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	GLikely benign

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Links from Gene

Items: 20