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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388865	NC_000007.14:g.142667241G>A	LOC123956253, MTRNR2L6 +1 more	Single nucleotide variant	not specified	GUncertain significance
Select item 2280947	NC_000007.14:g.142667298G>T	LOC123956253, MTRNR2L6 +1 more	Single nucleotide variant	not specified	GUncertain significance
Select item 1698632	NM_002769.4(PRSS1):c.-28_-8del21	PRSS1, TRB	Deletion	Hereditary pancreatitis +1 more	GUncertain significance
Select item 2448230	NM_002769.5(PRSS1):c.-4C>A	PRSS1, TRB	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1784190	NM_002769.5(PRSS1):c.-1C>T	PRSS1, TRB	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310635	NM_002769.5(PRSS1):c.5A>G (p.Asn2Ser)	PRSS1, TRB (N2S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1039809	NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys)	PRSS1, TRB (N2K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GConflicting classifications of pathogenicity
Select item 1769337	NM_002769.5(PRSS1):c.12C>A (p.Leu4=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1771762	NM_002769.5(PRSS1):c.13C>T (p.Leu5=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 2496905	NM_002769.5(PRSS1):c.15G>C (p.Leu5=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 2497526	NM_002769.5(PRSS1):c.16A>G (p.Ile6Val)	PRSS1, TRB (I6V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1062630	NM_002769.5(PRSS1):c.16A>T (p.Ile6Phe)	PRSS1, TRB (I6F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 3310654	NM_002769.5(PRSS1):c.17T>A (p.Ile6Asn)	PRSS1, TRB (I6N)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1789246	NM_002769.5(PRSS1):c.22A>G (p.Thr8Ala)	PRSS1, TRB (T8A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1792206	NM_002769.5(PRSS1):c.24C>G (p.Thr8=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1792201	NM_002769.5(PRSS1):c.24C>A (p.Thr8=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1796207	NM_002769.5(PRSS1):c.27T>C (p.Phe9=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3222794	NM_002769.5(PRSS1):c.28G>A (p.Val10Met)	PRSS1, TRB (V10M)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2563197	NM_002769.5(PRSS1):c.30G>T (p.Val10=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1729944	NM_002769.5(PRSS1):c.32C>G (p.Ala11Gly)	PRSS1, TRB (A11G)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1732051	NM_002769.5(PRSS1):c.34G>A (p.Ala12Thr)	TRB, PRSS1 (A12T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 580510	NM_002769.5(PRSS1):c.35C>T (p.Ala12Val)	PRSS1, TRB (A12V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 3310648	NM_002769.5(PRSS1):c.38C>A (p.Ala13Asp)	PRSS1, TRB (A13D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 569101	NM_002769.5(PRSS1):c.38C>T (p.Ala13Val)	PRSS1, TRB (A13V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1737824	NM_002769.5(PRSS1):c.40C>A (p.Leu14Ile)	PRSS1, TRB (L14I)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 939930	NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)	TRB, PRSS1 (L14V)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GConflicting classifications of pathogenicity
Select item 528768	NM_002769.5(PRSS1):c.40C>T (p.Leu14Phe)	PRSS1, TRB (L14F)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1047032	NM_002769.5(PRSS1):c.40+1G>A	PRSS1, TRB	Single nucleotide variant (splice donor variant)	Hereditary pancreatitis	GUncertain significance
Select item 528770	NM_002769.5(PRSS1):c.40+3_40+6del	TRB, PRSS1	Deletion (splice donor variant)	Hereditary pancreatitis	GUncertain significance
Select item 416606	NM_002769.5(PRSS1):c.40+10A>G	PRSS1, TRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 824642	NM_002769.5(PRSS1):c.41-5del	TRB, PRSS1	Deletion (intron variant)	Hereditary pancreatitis	GUncertain significance
Select item 1741027	NM_002769.5(PRSS1):c.44C>T (p.Ala15Val)	PRSS1, TRB (A15V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1741809	NM_002769.5(PRSS1):c.45T>A (p.Ala15=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 38363	NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)	PRSS1, TRB (A16V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3222813	NM_002769.5(PRSS1):c.48C>A (p.Ala16=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 825271	NM_002769.5(PRSS1):c.48C>T (p.Ala16=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 1206231	NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser)	PRSS1, TRB (P17S)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GBenign/Likely benign
Select item 2497444	NM_002769.5(PRSS1):c.50C>A (p.Pro17His)	PRSS1, TRB (P17H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1745334	NM_002769.5(PRSS1):c.50C>G (p.Pro17Arg)	PRSS1, TRB (P17R)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 811412	NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu)	PRSS1, TRB (P17L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1746008	NM_002769.5(PRSS1):c.51C>A (p.Pro17=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1746698	NM_002769.5(PRSS1):c.52T>C (p.Phe18Leu)	PRSS1, TRB (F18L)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1374275	NM_002769.5(PRSS1):c.54del (p.Phe18fs)	PRSS1, TRB (F18fs)	Deletion (frameshift variant)	Hereditary pancreatitis	GUncertain significance
Select item 3222817	NM_002769.5(PRSS1):c.55G>C (p.Asp19His)	PRSS1, TRB (D19H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1749143	NM_002769.5(PRSS1):c.56A>G (p.Asp19Gly)	PRSS1, TRB (D19G)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1750393	NM_002769.5(PRSS1):c.58G>C (p.Asp20His)	PRSS1, TRB (D20H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1511516	NM_002769.5(PRSS1):c.58G>A (p.Asp20Asn)	PRSS1, TRB (D20N)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1752175	NM_002769.5(PRSS1):c.61G>C (p.Asp21His)	PRSS1, TRB (D21H)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1752709	NM_002769.5(PRSS1):c.62A>T (p.Asp21Val)	PRSS1, TRB (D21V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2448229	NM_002769.5(PRSS1):c.67A>G (p.Lys23Glu)	PRSS1, TRB (K23E)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1756567	NM_002769.5(PRSS1):c.69G>A (p.Lys23=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3310627	NM_002769.5(PRSS1):c.70A>C (p.Ile24Leu)	PRSS1, TRB (I24L)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1757660	NM_002769.5(PRSS1):c.71T>A (p.Ile24Asn)	TRB, PRSS1 (I24N)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1758179	NM_002769.5(PRSS1):c.72C>A (p.Ile24=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 917814	NM_002769.5(PRSS1):c.72C>T (p.Ile24=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1758735	NM_002769.5(PRSS1):c.73G>T (p.Val25Phe)	PRSS1, TRB (V25F)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1758729	NM_002769.5(PRSS1):c.73G>C (p.Val25Leu)	PRSS1, TRB (V25L)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 459187	NM_002769.5(PRSS1):c.73G>A (p.Val25Ile)	PRSS1, TRB (V25I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2497438	NM_002769.5(PRSS1):c.74T>C (p.Val25Ala)	PRSS1, TRB (V25A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 618849	NM_002769.5(PRSS1):c.75T>C (p.Val25=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1388598	NM_002769.5(PRSS1):c.76G>C (p.Gly26Arg)	PRSS1, TRB (G26R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1760685	NM_002769.5(PRSS1):c.77G>A (p.Gly26Glu)	PRSS1, TRB (G26E)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222828	NM_002769.5(PRSS1):c.78G>A (p.Gly26=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1535649	NM_002769.5(PRSS1):c.81C>T (p.Gly27=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 827569	NM_002769.5(PRSS1):c.82T>G (p.Tyr28Asp)	PRSS1, TRB (Y28D)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1763631	NM_002769.5(PRSS1):c.84C>T (p.Tyr28=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 2621917	NM_002769.5(PRSS1):c.86A>G (p.Asn29Ser)	PRSS1, TRB (N29S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 11877	NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	PRSS1, TRB (N29I)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +3 more	GPathogenic
Select item 1542797	NM_002769.5(PRSS1):c.87C>T (p.Asn29=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign
Select item 651036	NM_002769.5(PRSS1):c.87C>G (p.Asn29Lys)	PRSS1, TRB (N29K)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1765055	NM_002769.5(PRSS1):c.88T>A (p.Cys30Ser)	PRSS1, TRB (C30S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 823221	NM_002769.5(PRSS1):c.91GAG[1] (p.Glu32del)	PRSS1, TRB (E32del)	Microsatellite (inframe_deletion)	Hereditary pancreatitis	GUncertain significance
Select item 1766474	NM_002769.5(PRSS1):c.92A>T (p.Glu31Val)	PRSS1, TRB (E31V)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222829	NM_002769.5(PRSS1):c.93G>C (p.Glu31Asp)	PRSS1, TRB (E31D)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 496180	NM_002769.5(PRSS1):c.93G>A (p.Glu31=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1767510	NM_002769.5(PRSS1):c.95A>G (p.Glu32Gly)	PRSS1, TRB (E32G)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 2496907	NM_002769.5(PRSS1):c.98A>C (p.Asn33Thr)	PRSS1, TRB (N33T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222784	NM_002769.5(PRSS1):c.104T>C (p.Val35Ala)	PRSS1, TRB (V35A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1779751	NM_002769.5(PRSS1):c.105C>G (p.Val35=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 459181	NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg)	PRSS1, TRB (P36R)	Single nucleotide variant (missense variant)	Hereditary pancreatitis +1 more	GUncertain significance
Select item 1788793	NM_002769.5(PRSS1):c.108C>T (p.Pro36=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 3310640	NM_002769.5(PRSS1):c.111C>G (p.Tyr37Ter)	PRSS1, TRB (Y37*)	Single nucleotide variant (nonsense +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3222785	NM_002769.5(PRSS1):c.111C>T (p.Tyr37=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1721622	NM_002769.5(PRSS1):c.112C>A (p.Gln38Lys)	PRSS1, TRB (Q38K)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1497768	NM_002769.5(PRSS1):c.112C>G (p.Gln38Glu)	PRSS1, TRB (Q38E)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1733681	NM_002769.5(PRSS1):c.114G>A (p.Gln38=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 2496909	NM_002769.5(PRSS1):c.118T>A (p.Ser40Thr)	PRSS1, TRB (S40T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1744634	NM_002769.5(PRSS1):c.118T>G (p.Ser40Ala)	PRSS1, TRB (S40A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1948384	NM_002769.5(PRSS1):c.119C>G (p.Ser40Cys)	PRSS1, TRB (S40C)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1039031	NM_002769.5(PRSS1):c.119C>A (p.Ser40Tyr)	PRSS1, TRB (S40Y)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 1749800	NM_002769.5(PRSS1):c.120C>T (p.Ser40=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 416607	NM_002769.5(PRSS1):c.121C>T (p.Leu41=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +1 more	GBenign/Likely benign
Select item 1758003	NM_002769.5(PRSS1):c.123G>C (p.Leu41=)	TRB, PRSS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1757927	NM_002769.5(PRSS1):c.123G>A (p.Leu41=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 2563189	NM_002769.5(PRSS1):c.125A>G (p.Asn42Ser)	PRSS1, TRB (N42S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 3310636	NM_002769.5(PRSS1):c.127T>G (p.Ser43Ala)	PRSS1, TRB (S43A)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1769329	NM_002769.5(PRSS1):c.129T>C (p.Ser43=)	PRSS1, TRB	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 1769626	NM_002769.5(PRSS1):c.130G>A (p.Gly44Ser)	PRSS1, TRB (G44S)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GUncertain significance
Select item 1770096	NM_002769.5(PRSS1):c.132C>A (p.Gly44=)	TRB, PRSS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary pancreatitis	GLikely benign
Select item 574110	NM_002769.5(PRSS1):c.132C>G (p.Gly44=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis	GLikely benign

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