"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CTRC"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292903	NM_007272.3(CTRC):c.25G>T (p.Ala9Ser)	CTRC (A9S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292904	NM_007272.3(CTRC):c.26C>T (p.Ala9Val)	CTRC (A9V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 654653	NM_007272.3(CTRC):c.35C>T (p.Ala12Val)	CTRC (A12V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 824639	NM_007272.3(CTRC):c.41-5C>A	CTRC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163624	NM_007272.3(CTRC):c.86G>T (p.Arg29Leu)	CTRC (R29L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 847694	NM_007272.3(CTRC):c.109C>T (p.Arg37Trp)	CTRC (R37W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1780169	NM_007272.3(CTRC):c.178G>A (p.Gly60Ser)	CTRC (G60S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1163625	NM_007272.3(CTRC):c.185C>G (p.Thr62Ser)	CTRC (T62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163725	NM_007272.3(CTRC):c.194C>T (p.Ala65Val)	CTRC (A65V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 874807	NM_007272.3(CTRC):c.205G>A (p.Val69Ile)	CTRC (V69I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163726	NM_007272.3(CTRC):c.247C>T (p.Arg83Cys)	CTRC (R83C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 641331	NM_007272.3(CTRC):c.251T>C (p.Val84Ala)	CTRC (V84A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1731840	NM_007272.3(CTRC):c.347T>C (p.Leu116Pro)	CTRC (L116P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811638	NM_007272.3(CTRC):c.356G>A (p.Arg119His)	CTRC (R119H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1740761	NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)	CTRC (L149F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874809	NM_007272.3(CTRC):c.485G>A (p.Arg162His)	CTRC (R162H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 3379418	NM_007272.3(CTRC):c.550G>T (p.Ala184Ser)	CTRC (A184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693826	NM_007272.3(CTRC):c.557G>A (p.Cys186Tyr)	CTRC (C186Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958514	NM_007272.3(CTRC):c.643G>A (p.Asp215Asn)	CTRC (D215N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420177	NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)	CTRC (G217R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163727	NM_007272.3(CTRC):c.658C>G (p.Leu220Val)	CTRC (L220V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683701	NM_007272.3(CTRC):c.661A>T (p.Asn221Tyr)	CTRC (N221Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581364	NM_007272.3(CTRC):c.719G>A (p.Arg240Gln)	CTRC (R240Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 827004	NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)	CTRC (R246L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 827156	NM_007272.3(CTRC):c.761G>C (p.Arg254Pro)	CTRC (R254P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1163728	NM_007272.3(CTRC):c.764T>A (p.Val255Glu)	CTRC (V255E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 26