C2713442[trait identifier] AND "ClinGen InSiGHT Hereditary Colorectal - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 628229	NM_000038.6(APC):c.32dup (p.Gln12fs)	APC (Q12fs)	Duplication (frameshift variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 631238	NM_000038.6(APC):c.123A>G (p.Ala41=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 628873	NM_000038.6(APC):c.235A>G (p.Ser79Gly)	APC (S89G +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 135695	NM_000038.6(APC):c.295C>T (p.Arg99Trp)	APC (R99W +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 41529	NM_000038.6(APC):c.420G>C (p.Glu140Asp)	APC (E140D +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 181781	NM_000038.6(APC):c.423-4del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 824698	NM_000038.6(APC):c.423-11A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 217982	NM_000038.6(APC):c.423-3_423-2del	APC	Deletion (splice acceptor variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 804	NM_000038.6(APC):c.509_512del (p.Asp170fs)	APC (D170fs +3 more)	Microsatellite (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database
Select item 411469	NM_000038.6(APC):c.532-8G>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database
Select item 537703	NC_000005.9:g.(?_112116481)_(112179829_?)dup	APC	Duplication	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 218000	NM_000038.6(APC):c.645+1G>A	APC	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 215569	NM_000038.6(APC):c.645+9C>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 92349	NM_000038.6(APC):c.705A>G (p.Leu235=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 220329	NM_000038.6(APC):c.715G>C (p.Ala239Pro)	APC (A239P +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 827113	NM_000038.6(APC):c.754A>G (p.Thr252Ala)	APC (T227A +5 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 418007	NM_000038.6(APC):c.835-8A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 184999	NM_000038.6(APC):c.847C>T (p.Arg283Ter)	APC (R265* +5 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database
Select item 187754	NM_000038.6(APC):c.995G>A (p.Arg332Gln)	APC (R314Q +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 822187	NM_000038.6(APC):c.1105TTG[1] (p.Leu370del)	APC (L311del +6 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 438864	NM_000038.6(APC):c.1240del (p.Arg414fs)	APC (R131fs +10 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 797	NM_000038.6(APC):c.1240C>T (p.Arg414Cys)	APC (R414C +10 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 215553	NM_000038.6(APC):c.1242C>T (p.Arg414=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 826	NM_000038.6(APC):c.1311_1312+1del	APC	Deletion (splice donor variant)	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database
Select item 42238	NM_000038.6(APC):c.1458T>C (p.Tyr486=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 482257	NM_000038.6(APC):c.1487C>T (p.Thr496Ile)	APC (T478I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 140764	NM_000038.6(APC):c.1549-13A>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 649594	NM_000038.6(APC):c.1626G>C (p.Gln542His)	APC (Q501H +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 230944	NM_000038.6(APC):c.1626+2T>G	APC	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 411555	NM_000038.6(APC):c.1626+3A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 490221	NM_000038.6(APC):c.1627G>T (p.Val543Phe)	APC (V525F +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 42239	NM_000038.6(APC):c.1635G>A (p.Ala545=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 231116	NM_000038.6(APC):c.1746A>G (p.Glu582=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 2442314	NM_000038.6(APC):c.1900dup (p.Ser634fs)	APC (S351fs +12 more)	Duplication (frameshift variant)	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database
Select item 419202	NM_000038.6(APC):c.1956C>T (p.His652=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 142010	NM_000038.6(APC):c.2476T>G (p.Leu826Val)	APC (L808V +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 1393312	NM_000038.6(APC):c.3077A>G (p.Asn1026Ser)	APC (N1001S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 428167	NM_000038.6(APC):c.3077A>C (p.Asn1026Thr)	APC (N1008T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 469904	NM_000038.6(APC):c.3083G>T (p.Ser1028Ile)	APC (S937I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 428186	NM_000038.6(APC):c.3083G>A (p.Ser1028Asn)	APC (S1010N +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 862543	NM_000038.6(APC):c.3084T>G (p.Ser1028Arg)	APC (S1000R +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 233215	NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)	APC (S1010R +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 816	NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	APC (E1149fs +12 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 1 +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 411419	NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)	APC (P1467S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 133530	NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)	APC (A1456T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 140839	NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)	APC (C1560G +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 486786	NM_000038.6(APC):c.4778del (p.Lys1593fs)	APC (K1492fs +12 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database
Select item 183069	NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr)	APC (D1618Y +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 21030	NM_000038.6(APC):c.5465T>A (p.Val1822Asp)	APC (V1804D +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 411472	NM_000038.6(APC):c.5761G>A (p.Gly1921Ser)	APC (G1921S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 140994	NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)	APC	Microsatellite (inframe_insertion)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 371858	NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del)	APC	Deletion (inframe_deletion)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 41516	NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)	APC (S2621C +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 411374	NM_000038.6(APC):c.8438C>A (p.Thr2813Lys)	APC (T2813K +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 486740	NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter)	APC (Y2820* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 950642	NM_000038.6(APC):c.8530T>G (p.Ter2844Glu)	APC	Single nucleotide variant (stop lost)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 2442316	Single allele		Deletion	Familial adenomatous polyposis 1	GLikely pathogenic FDA Recognized database
Select item 2442315	Single allele		Deletion	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database

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Items: 58