"Ambry Genetics"[submitter] AND "CTRC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240761	NM_007272.3(CTRC):c.-59C>T	CTRC	Single nucleotide variant	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 2626250	NM_007272.3(CTRC):c.-2C>T	CTRC	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784194	NM_007272.3(CTRC):c.-1C>T	CTRC	Single nucleotide variant (5 prime UTR variant)	Hereditary pancreatitis	GUncertain significance
Select item 1784172	NM_007272.3(CTRC):c.1A>G (p.Met1Val)	CTRC (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1798675	NM_007272.3(CTRC):c.2T>C (p.Met1Thr)	CTRC (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely pathogenic
Select item 2624555	NM_007272.3(CTRC):c.6G>A (p.Leu2=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1761606	NM_007272.3(CTRC):c.7G>T (p.Gly3Cys)	CTRC (G3C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626259	NM_007272.3(CTRC):c.8G>A (p.Gly3Asp)	CTRC (G3D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1747184	NM_007272.3(CTRC):c.11T>C (p.Ile4Thr)	CTRC (I4T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1769354	NM_007272.3(CTRC):c.12C>T (p.Ile4=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3270187	NM_007272.3(CTRC):c.13A>G (p.Thr5Ala)	CTRC (T5A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2449709	NM_007272.3(CTRC):c.13A>C (p.Thr5Pro)	CTRC (T5P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1771755	NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)	CTRC (T5S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 416443	NM_007272.3(CTRC):c.15T>C (p.Thr5=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3226054	NM_007272.3(CTRC):c.16G>A (p.Val6Ile)	CTRC (V6I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1787580	NM_007272.3(CTRC):c.21C>A (p.Leu7=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1582714	NM_007272.3(CTRC):c.21C>T (p.Leu7=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1059745	NM_007272.3(CTRC):c.22G>A (p.Ala8Thr)	CTRC (A8T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1790704	NM_007272.3(CTRC):c.23C>G (p.Ala8Gly)	CTRC (A8G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
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 1794896	NM_007272.3(CTRC):c.26C>A (p.Ala9Glu)	CTRC (A9E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	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 2626266	NM_007272.3(CTRC):c.27G>C (p.Ala9=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 416445	NM_007272.3(CTRC):c.27G>A (p.Ala9=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 1798638	NM_007272.3(CTRC):c.29T>C (p.Leu10Pro)	CTRC (L10P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1727604	NM_007272.3(CTRC):c.30C>G (p.Leu10=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1728799	NM_007272.3(CTRC):c.31T>C (p.Leu11=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1731045	NM_007272.3(CTRC):c.33G>C (p.Leu11Phe)	CTRC (L11F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1731031	NM_007272.3(CTRC):c.33G>A (p.Leu11=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
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 3270181	NM_007272.3(CTRC):c.38G>A (p.Cys13Tyr)	CTRC (C13Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 410882	NM_007272.3(CTRC):c.39T>C (p.Cys13=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 662237	NM_007272.3(CTRC):c.40+4A>G	CTRC	Single nucleotide variant (intron variant)	Hereditary pancreatitis	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 292905	NM_007272.3(CTRC):c.46A>G (p.Ser16Gly)	CTRC (S16G)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
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 1743942	NM_007272.3(CTRC):c.48C>T (p.Ser16=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1743935	NM_007272.3(CTRC):c.48C>G (p.Ser16Arg)	CTRC (S16R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 582232	NM_007272.3(CTRC):c.52G>A (p.Gly18Arg)	CTRC (G18R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1747953	NM_007272.3(CTRC):c.54G>A (p.Gly18=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449713	NM_007272.3(CTRC):c.55G>A (p.Val19Met)	CTRC (V19M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1748564	NM_007272.3(CTRC):c.55G>T (p.Val19Leu)	CTRC (V19L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2452656	NM_007272.3(CTRC):c.56T>C (p.Val19Ala)	CTRC (V19A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1749750	NM_007272.3(CTRC):c.57dup (p.Pro20fs)	CTRC (P20fs)	Duplication (frameshift variant)	Hereditary pancreatitis	GPathogenic
Select item 834628	NM_007272.3(CTRC):c.58C>T (p.Pro20Ser)	CTRC (P20S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1753301	NM_007272.3(CTRC):c.63C>T (p.Ser21=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564424	NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)	CTRC (F22L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1754972	NM_007272.3(CTRC):c.66C>T (p.Phe22=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 292906	NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)	CTRC (P23L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1756582	NM_007272.3(CTRC):c.69G>T (p.Pro23=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 702853	NM_007272.3(CTRC):c.69G>A (p.Pro23=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1758191	NM_007272.3(CTRC):c.72C>T (p.Pro24=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2564422	NM_007272.3(CTRC):c.73A>G (p.Asn25Asp)	CTRC (N25D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1760205	NM_007272.3(CTRC):c.76C>T (p.Leu26=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1760693	NM_007272.3(CTRC):c.77T>C (p.Leu26Pro)	CTRC (L26P)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1761102	NM_007272.3(CTRC):c.78A>G (p.Leu26=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 873856	NM_007272.3(CTRC):c.81C>T (p.Ser27=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1762834	NM_007272.3(CTRC):c.82G>T (p.Ala28Ser)	CTRC (A28S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 292907	NM_007272.3(CTRC):c.82G>A (p.Ala28Thr)	CTRC (A28T)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1763237	NM_007272.3(CTRC):c.83C>T (p.Ala28Val)	CTRC (A28V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1559137	NM_007272.3(CTRC):c.84C>T (p.Ala28=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 3270190	NM_007272.3(CTRC):c.85C>A (p.Arg29=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 576351	NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)	CTRC (R29*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis +1 more	GPathogenic/Likely pathogenic
Select item 1397450	NM_007272.3(CTRC):c.86G>A (p.Arg29Gln)	CTRC (R29Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
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 2497347	NM_007272.3(CTRC):c.89T>C (p.Val30Ala)	CTRC (V30A)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226092	NM_007272.3(CTRC):c.91G>A (p.Val31Met)	CTRC (V31M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1773718	NM_007272.3(CTRC):c.103G>A (p.Asp35Asn)	CTRC (D35N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 2915456	NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)	CTRC (A36S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1788818	NM_007272.3(CTRC):c.108C>T (p.Ala36=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
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 240762	NM_007272.3(CTRC):c.110G>A (p.Arg37Gln)	CTRC (R37Q)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GBenign/Likely benign
Select item 1797328	NM_007272.3(CTRC):c.111G>A (p.Arg37=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2626254	NM_007272.3(CTRC):c.114C>T (p.Pro38=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2449705	NM_007272.3(CTRC):c.118A>C (p.Ser40Arg)	CTRC (S40R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1749722	NM_007272.3(CTRC):c.120C>A (p.Ser40Arg)	CTRC (S40R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226050	NM_007272.3(CTRC):c.127T>C (p.Trp43Arg)	CTRC (W43R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626263	NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)	CTRC (W43*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GLikely pathogenic
Select item 1709448	NM_007272.3(CTRC):c.129G>T (p.Trp43Cys)	CTRC (W43C)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1421306	NM_007272.3(CTRC):c.130del (p.Gln44fs)	CTRC (Q44fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 2921107	NM_007272.3(CTRC):c.132G>A (p.Gln44=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 3270197	NM_007272.3(CTRC):c.133A>G (p.Ile45Val)	CTRC (I45V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3226051	NM_007272.3(CTRC):c.133A>T (p.Ile45Phe)	CTRC (I45F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1770577	NM_007272.3(CTRC):c.134T>A (p.Ile45Asn)	CTRC (I45N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2497349	NM_007272.3(CTRC):c.137C>T (p.Ser46Phe)	CTRC (S46F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1771505	NM_007272.3(CTRC):c.138C>T (p.Ser46=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 567210	NM_007272.3(CTRC):c.139C>T (p.Leu47Phe)	CTRC (L47F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1042277	NM_007272.3(CTRC):c.143A>G (p.Gln48Arg)	CTRC (Q48R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2626260	NM_007272.3(CTRC):c.144G>A (p.Gln48=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1517914	NM_007272.3(CTRC):c.145T>C (p.Tyr49His)	CTRC (Y49H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 2452648	NM_007272.3(CTRC):c.147C>T (p.Tyr49=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2914076	NM_007272.3(CTRC):c.150C>G (p.Leu50=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 2626265	NM_007272.3(CTRC):c.150C>T (p.Leu50=)	CTRC	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1774386	NM_007272.3(CTRC):c.151A>G (p.Lys51Glu)	CTRC (K51E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 660659	NM_007272.3(CTRC):c.154A>G (p.Asn52Asp)	CTRC (N52D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 292908	NM_007272.3(CTRC):c.156C>T (p.Asn52=)	CTRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1775664	NM_007272.3(CTRC):c.157G>C (p.Asp53His)	CTRC (D53H)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1775661	NM_007272.3(CTRC):c.157G>A (p.Asp53Asn)	CTRC (D53N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GLikely benign
Select item 3226052	NM_007272.3(CTRC):c.159C>G (p.Asp53Glu)	CTRC (D53E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 851628	NM_007272.3(CTRC):c.161C>T (p.Thr54Met)	CTRC (T54M)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance

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