ClinVar for MedGen (Select 398651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340529	NM_000038.6(APC):c.5038_5039del (p.Gln1680fs)	APC (Q1296fs +18 more)	Microsatellite (frameshift variant +1 more)	Familial adenomatous polyposis 1	GLikely pathogenic
Select item 3255180	NM_000038.6(APC):c.351_355del (p.Phe118fs)	APC (F118fs +3 more)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3254694	NM_000038.6(APC):c.532-1G>C	APC	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 1	GPathogenic
Select item 3254533	NM_000038.6(APC):c.8499C>T (p.Arg2833=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254532	NM_000038.6(APC):c.7110T>C (p.Gly2370=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254526	NM_000038.6(APC):c.5592T>C (p.Ser1864=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254523	NM_000038.6(APC):c.5364T>C (p.Arg1788=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254521	NM_000038.6(APC):c.8499C>A (p.Arg2833=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254515	NM_000038.6(APC):c.5256A>G (p.Gln1752=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254514	NM_000038.6(APC):c.5958T>C (p.Pro1986=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254511	NM_000038.6(APC):c.5808A>G (p.Ser1936=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254481	NM_000038.6(APC):c.8211G>A (p.Glu2737=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254480	NM_000038.6(APC):c.8364A>G (p.Pro2788=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254479	NM_000038.6(APC):c.8172C>T (p.Ser2724=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254478	NM_000038.6(APC):c.8142T>C (p.Arg2714=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254477	NM_000038.6(APC):c.8022T>C (p.Ser2674=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254476	NM_000038.6(APC):c.7875T>C (p.Ser2625=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254475	NM_000038.6(APC):c.7638C>A (p.Thr2546=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254474	NM_000038.6(APC):c.7477C>T (p.Leu2493=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254473	NM_000038.6(APC):c.7224T>C (p.Asn2408=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254472	NM_000038.6(APC):c.7158G>A (p.Lys2386=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254471	NM_000038.6(APC):c.6705A>C (p.Gly2235=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254470	NM_000038.6(APC):c.6702A>C (p.Pro2234=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254469	NM_000038.6(APC):c.6682A>C (p.Arg2228=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254468	NM_000038.6(APC):c.6370T>C (p.Leu2124=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254467	NM_000038.6(APC):c.6390T>C (p.Ser2130=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254466	NM_000038.6(APC):c.6213A>C (p.Ile2071=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254465	NM_000038.6(APC):c.6180T>C (p.Asn2060=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254464	NM_000038.6(APC):c.5901C>G (p.Ser1967=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254463	NM_000038.6(APC):c.5889T>C (p.Phe1963=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254462	NM_000038.6(APC):c.5727G>A (p.Lys1909=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254461	NM_000038.6(APC):c.5721T>C (p.Ala1907=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 3254460	NM_000038.6(APC):c.5391T>C (p.Asn1797=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254459	NM_000038.6(APC):c.5166T>C (p.Asp1722=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254452	NM_000038.6(APC):c.7788A>G (p.Ser2596=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254448	NM_000038.6(APC):c.7857A>G (p.Glu2619=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254446	NM_000038.6(APC):c.6024T>C (p.Ala2008=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254442	NM_000038.6(APC):c.6378A>G (p.Arg2126=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254441	NM_000038.6(APC):c.6870C>T (p.Ser2290=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254437	NM_000038.6(APC):c.5466C>T (p.Val1822=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254436	NM_000038.6(APC):c.6924C>G (p.Thr2308=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254434	NM_000038.6(APC):c.5613T>C (p.Asp1871=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254426	NM_000038.6(APC):c.6214T>C (p.Leu2072=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254413	NM_000038.6(APC):c.8310C>T (p.His2770=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254402	NM_000038.6(APC):c.3968_3976delinsGTGC (p.Val1323fs)	APC (V1040fs +18 more)	Indel (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3254401	NM_000038.6(APC):c.3077del (p.Asn1026fs)	APC (N1001fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3254390	NM_000038.6(APC):c.601dup (p.Glu201fs)	APC (E142fs +3 more)	Duplication (frameshift variant +2 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3254353	NM_000038.6(APC):c.6996T>G (p.Gly2332=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254346	NM_000038.6(APC):c.6822C>G (p.Ala2274=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254322	NM_000038.6(APC):c.5235G>A (p.Lys1745=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254314	NM_000038.6(APC):c.6750C>G (p.Gly2250=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254285	NM_000038.6(APC):c.6360T>A (p.Ala2120=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254273	NM_000038.6(APC):c.6804C>A (p.Thr2268=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254258	NM_000038.6(APC):c.8091A>T (p.Ser2697=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254243	NM_000038.6(APC):c.7881T>A (p.Ser2627=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254237	NM_000038.6(APC):c.8529T>A (p.Val2843=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254233	NM_000038.6(APC):c.6087T>A (p.Ser2029=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254232	NM_000038.6(APC):c.7896A>C (p.Ser2632=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254230	NM_000038.6(APC):c.6183_6186delinsGAAG (p.Glu2061_Lys2062=)	APC	Indel (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254228	NM_000038.6(APC):c.8529T>G (p.Val2843=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254224	NM_000038.6(APC):c.6162A>C (p.Ser2054=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254217	NM_000038.6(APC):c.8325G>C (p.Gly2775=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254208	NM_000038.6(APC):c.6501T>A (p.Ile2167=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254206	NM_000038.6(APC):c.5367A>C (p.Val1789=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254192	NM_000038.6(APC):c.3700del (p.Ser1234fs)	APC (S1074fs +18 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3254190	NM_000038.6(APC):c.5669del (p.Glu1889_Ser1890insTer)	APC	Deletion (nonsense +1 more)	Familial adenomatous polyposis 1	GPathogenic
Select item 3254181	NM_000038.6(APC):c.8505T>A (p.Ser2835=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254175	NM_000038.6(APC):c.5403T>A (p.Ala1801=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254166	NM_000038.6(APC):c.8526T>A (p.Ser2842=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254163	NM_000038.6(APC):c.5700A>G (p.Leu1900=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254159	NM_000038.6(APC):c.8001C>T (p.Asn2667=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254156	NM_000038.6(APC):c.6657A>C (p.Ala2219=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254149	NM_000038.6(APC):c.8355T>C (p.Asn2785=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254146	NM_000038.6(APC):c.7509A>T (p.Gly2503=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254145	NM_000038.6(APC):c.8205A>T (p.Gly2735=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254144	NM_000038.6(APC):c.5340A>T (p.Pro1780=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254140	NM_000038.6(APC):c.6909A>T (p.Gly2303=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 3254139	NM_000038.6(APC):c.6852T>C (p.Pro2284=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254133	NM_000038.6(APC):c.6756C>T (p.Pro2252=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254124	NM_000038.6(APC):c.8037T>G (p.Thr2679=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254115	NM_000038.6(APC):c.7947T>C (p.Pro2649=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254107	NM_000038.6(APC):c.8130T>C (p.Ser2710=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254097	NM_000038.6(APC):c.8031T>G (p.Gly2677=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254094	NM_000038.6(APC):c.7950T>G (p.Ala2650=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254093	NM_000038.6(APC):c.7407T>G (p.Ser2469=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254092	NM_000038.6(APC):c.7260T>G (p.Ser2420=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254091	NM_000038.6(APC):c.6927T>G (p.Pro2309=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254090	NM_000038.6(APC):c.6852T>G (p.Pro2284=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254089	NM_000038.6(APC):c.6456T>G (p.Pro2152=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254088	NM_000038.6(APC):c.6582T>G (p.Val2194=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254087	NM_000038.6(APC):c.6882G>A (p.Gly2294=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254086	NM_000038.6(APC):c.5916C>A (p.Leu1972=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254085	NM_000038.6(APC):c.5220T>G (p.Pro1740=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254082	NM_000038.6(APC):c.6498A>T (p.Arg2166=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254066	NM_000038.6(APC):c.5535T>C (p.His1845=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254063	NM_000038.6(APC):c.6486T>C (p.Asn2162=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254061	NM_000038.6(APC):c.7360A>C (p.Arg2454=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254060	NM_000038.6(APC):c.7380T>A (p.Ala2460=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254054	NM_000038.6(APC):c.6906A>G (p.Ser2302=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign
Select item 3254052	NM_000038.6(APC):c.5997A>G (p.Pro1999=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1	GBenign

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