ClinVar for MedGen (Select 965772) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425860	NC_000015.9:g.(?_32976738)_(33023486_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425859	NC_000015.9:g.(?_32393486)_(34030811_?)dup	ARHGAP11A, CHRNA7 +5 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425858	NC_000015.9:g.(?_32971947)_(33023446_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425857	NC_000015.9:g.(?_32983891)_(33023446_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425856	NC_000015.9:g.(?_32976738)_(33023446_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425855	NC_000015.9:g.(?_33004838)_(33004937_?)dup	GREM1	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425854	NC_000015.9:g.(?_32964889)_(33878337_?)dup	GREM1, RYR3 +1 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2425853	NC_000015.9:g.(?_32964889)_(32976890_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1411764	NC_000015.9:g.(?_32964839)_(33004986_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1411763	NC_000015.9:g.(?_32983891)_(32988830_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1411760	NC_000015.9:g.(?_32964889)_(33009478_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1411758	NC_000015.9:g.(?_32964889)_(32994756_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1241475	NM_013372.7(GREM1):c.-2+2140A>G	GREM1	Single nucleotide variant (intron variant)	Familial colorectal cancer +1 more	GBenign
Select item 1062673	NC_000015.9:g.(?_32964889)_(33004937_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1062672	NC_000015.9:g.(?_32964740)_(33002449_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1040887	NC_000015.9:g.(?_32964889)_(33012502_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1040886	NC_000015.9:g.(?_32964889)_(32988830_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1024935	NC_000015.9:g.(?_32964889)_(33010736_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1004166	NC_000015.9:g.(?_32964889)_(33010412_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 950629	NM_006231.4(POLE):c.5477G>C (p.Arg1826Pro)	POLE (R1826P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873427	NM_000251.3(MSH2):c.2635-24A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 873426	NM_000249.4(MLH1):c.1732-264A>T	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 847974	NM_002691.4(POLD1):c.2434C>A (p.Leu812Met)	POLD1 (L838M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 841975	NM_006231.4(POLE):c.349T>G (p.Ser117Ala)	POLE (S117A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 832812	NC_000015.10:g.(?_32672539)_(32679935_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 832797	NC_000015.10:g.(?_32679746)_(32712736_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GPathogenic
Select item 832500	NC_000015.10:g.(?_32679746)_(32702555_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GPathogenic
Select item 831612	NC_000015.10:g.(?_32696494)_(32731245_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 831190	NC_000015.10:g.(?_32696494)_(32718535_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 830504	NC_000015.10:g.(?_32694020)_(32731255_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 830437	NC_000015.10:g.(?_32672688)_(32731245_?)dup	GREM1, SCG5	Duplication	Familial colorectal cancer	GUncertain significance
Select item 656826	NC_000015.9:g.(?_32976738)_(33023456_?)dup	ARHGAP11A-SCG5, GREM1 +3 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 644488	NM_006231.4(POLE):c.5060C>T (p.Ser1687Phe)	POLE (S1687F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 584988	NM_002691.4(POLD1):c.2874G>A (p.Leu958=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 584987	NM_002691.4(POLD1):c.1687-2A>G	POLD1	Single nucleotide variant (splice acceptor variant)	Familial colorectal cancer	GUncertain significance
Select item 584986	NM_002691.4(POLD1):c.189G>T (p.Glu63Asp)	POLD1 (E63D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 584837	NM_006231.4(POLE):c.1741G>T (p.Ala581Ser)	POLE (A581S)	Single nucleotide variant (missense variant)	Familial colorectal cancer +1 more	GUncertain significance
Select item 584836	NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu)	POLE (Q1239E)	Single nucleotide variant (missense variant)	Familial colorectal cancer	GUncertain significance
Select item 584835	NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala)	POLE (E1241A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 584834	NM_006231.4(POLE):c.4476C>G (p.His1492Gln)	POLE (H1492Q)	Single nucleotide variant (missense variant)	Familial colorectal cancer +1 more	GUncertain significance
Select item 584833	NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn)	POLE (I1585N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 584832	NM_006231.4(POLE):c.4945A>G (p.Met1649Val)	POLE (M1649V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 584831	NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr)	POLE (A1883T)	Single nucleotide variant (missense variant)	Familial colorectal cancer	GUncertain significance
Select item 584830	NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del)	POLE (E1966del)	Microsatellite (inframe_deletion)	Colorectal cancer, susceptibility to, 12 +1 more	GUncertain significance
Select item 584829	NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter)	POLE (R2145*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 583730	NC_000015.9:g.(?_32964740)_(33023456_?)dup	SCG5-AS1, ARHGAP11A-SCG5 +4 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 571244	NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg)	POLE (Q1763R)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +2 more	GUncertain significance
Select item 543045	NC_000015.9:g.(?_32988695)_(33004759_?)dup	ARHGAP11A-SCG5, GREM1 +2 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 540672	NM_006231.4(POLE):c.5573G>A (p.Arg1858His)	POLE (R1858H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 537130	NM_002691.4(POLD1):c.589A>C (p.Ser197Arg)	POLD1 (S197R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GConflicting classifications of pathogenicity
Select item 484444	NM_006231.4(POLE):c.6747+5G>A	POLE	Single nucleotide variant (intron variant)	Familial colorectal cancer +2 more	GUncertain significance
Select item 476579	NC_000015.9:g.(?_32971947)_(33004759_?)dup	ARHGAP11A-SCG5, GREM1 +2 more	Duplication	Familial colorectal cancer	GPathogenic
Select item 476578	NC_000015.9:g.(?_32964740)_(33004759_?)dup	ARHGAP11A-SCG5, GREM1 +3 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 476577	NC_000015.9:g.(?_32964740)_(32988830_?)dup	ARHGAP11A-SCG5, GREM1 +2 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 473670	NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)	POLE (R1508G)	Single nucleotide variant (missense variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GUncertain significance
Select item 473626	NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys)	POLE (R1289C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 473601	NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del)	POLE (K1182del)	Microsatellite (inframe_deletion)	Familial colorectal cancer +2 more	GUncertain significance
Select item 473571	NM_006231.4(POLE):c.3076_3096dup (p.Asp1026_Leu1032dup)	POLE	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 473569	NM_006231.4(POLE):c.2T>A (p.Met1Lys)	LOC130009266, POLE (M1K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 469173	NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile)	POLD1 (S370I)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 439277	NM_006231.4(POLE):c.5398G>A (p.Val1800Met)	POLE (V1800M)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 422465	NM_002691.4(POLD1):c.2987C>T (p.Thr996Met)	POLD1 (T1022M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 411568	NM_000038.6(APC):c.3437G>A (p.Arg1146His)	APC (R1128H +12 more)	Single nucleotide variant (missense variant)	Familial colorectal cancer +5 more	GUncertain significance
Select item 408119	NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys)	POLD1 (R1053C +1 more)	Single nucleotide variant (missense variant +1 more)	POLD1-related condition +3 more	GUncertain significance
Select item 408091	NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly)	POLD1 (R843G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 407963	NM_002691.4(POLD1):c.511G>T (p.Ala171Ser)	POLD1 (A171S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 405850	NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys)	POLE (Y2194C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 405830	NM_006231.4(POLE):c.3745G>A (p.Val1249Met)	POLE (V1249M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 405791	NM_006231.4(POLE):c.2209A>G (p.Thr737Ala)	POLE (T737A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 405774	NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)	POLE (S549P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 405736	NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)	POLE (N1448S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity
Select item 405735	NM_006231.4(POLE):c.2099C>T (p.Pro700Leu)	POLE (P700L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 405704	NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)	POLE (R2149C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 405694	NM_006231.4(POLE):c.5429A>T (p.His1810Leu)	POLE (H1810L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 405691	NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)	POLE (A512T)	Single nucleotide variant (missense variant)	POLE-related condition +5 more	GConflicting classifications of pathogenicity
Select item 405681	NM_006231.4(POLE):c.720+1G>A	POLE	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 405601	NM_006231.4(POLE):c.5575C>G (p.Leu1859Val)	POLE (L1859V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 405600	NM_006231.4(POLE):c.5312C>T (p.Thr1771Met)	POLE (T1771M)	Single nucleotide variant (missense variant)	POLE-related condition +3 more	GUncertain significance
Select item 281399	NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)	GREM1 (P35A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 246387	NM_002691.4(POLD1):c.934G>A (p.Val312Met)	POLD1 (V312M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 246358	NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys)	POLE (S1391C)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +3 more	GUncertain significance
Select item 240611	NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)	POLE (K2223R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 240545	NM_006231.4(POLE):c.4901G>A (p.Arg1634His)	POLE (R1634H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 240439	NM_006231.4(POLE):c.2645A>G (p.Asn882Ser)	POLE (N882S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 240437	NM_006231.4(POLE):c.2602C>T (p.Leu868=)	POLE	Single nucleotide variant (synonymous variant)	Colorectal cancer, susceptibility to, 12 +5 more	GConflicting classifications of pathogenicity
Select item 240427	NM_006231.4(POLE):c.2171C>T (p.Ala724Val)	POLE (A724V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 240414	NM_006231.4(POLE):c.1993C>T (p.Arg665Trp)	POLE (R665W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 240403	NM_006231.4(POLE):c.1717C>T (p.Arg573Trp)	POLE (R573W)	Single nucleotide variant (missense variant)	POLE-related condition +2 more	GUncertain significance
Select item 240391	NM_006231.4(POLE):c.139C>T (p.Arg47Trp)	POLE (R47W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 240386	NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)	POLE (A430T)	Single nucleotide variant (missense variant)	POLE-related condition +4 more	GConflicting classifications of pathogenicity
Select item 239352	NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)	POLD1 (R174Q)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 239341	NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu)	POLD1 (R1098L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial colorectal cancer +3 more	GUncertain significance
Select item 239295	NM_002691.4(POLD1):c.2470A>G (p.Met824Val)	POLD1 (M824V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 239244	NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)	POLD1 (R521Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer +4 more	GConflicting classifications of pathogenicity
Select item 233120	NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)	MLH1 (A608V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 225288	NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	POLD1 (V70F)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +6 more	GConflicting classifications of pathogenicity
Select item 224589	NM_006231.4(POLE):c.940T>G (p.Ser314Ala)	POLE (S314A)	Single nucleotide variant (missense variant)	POLE-related condition +5 more	GConflicting classifications of pathogenicity
Select item 224588	NM_006231.4(POLE):c.844C>T (p.Pro282Ser)	POLE (P282S)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to, 12 +4 more	GConflicting classifications of pathogenicity

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