ClinVar for MedGen (Select 389187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627026	NM_003502.4(AXIN1):c.2167C>T (p.Arg723Ter)	AXIN1 (R723*)	Single nucleotide variant (nonsense +1 more)	Hepatocellular carcinoma	GUncertain significance
Select item 2206929	NM_003502.4(AXIN1):c.1118G>A (p.Arg373His)	AXIN1 (R373H)	Single nucleotide variant (missense variant +1 more)	Hepatocellular carcinoma +1 more	GUncertain significance
Select item 1703767	NM_005732.4(RAD50):c.2524+1_2524+9del	RAD50	Deletion (splice donor variant)	Hepatocellular carcinoma	GLikely pathogenic
Select item 1703766	NM_005732.4(RAD50):c.2046del (p.Val683fs)	RAD50 (V683fs)	Deletion (frameshift variant)	Hepatocellular carcinoma	GLikely pathogenic
Select item 1703765	NM_000535.7(PMS2):c.1144+250_2175-1948del	PMS2	Deletion (splice acceptor variant +1 more)	Hepatocellular carcinoma	GLikely pathogenic
Select item 1646016	NM_000038.6(APC):c.422+10C>G	APC	Single nucleotide variant (intron variant)	Desmoid disease, hereditary +5 more	GLikely benign
Select item 1599823	NM_001904.4(CTNNB1):c.1683+17A>G	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 1480925	NM_000245.4(MET):c.2893G>A (p.Gly965Ser)	MET (G535S +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +5 more	GUncertain significance
Select item 1403921	NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)	CTNNB1, LOC126806659 (H517R +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +7 more	GUncertain significance
Select item 1392042	NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)	APC (Q1487R +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1321122	NM_000038.6(APC):c.2573T>C (p.Ile858Thr)	APC (I575T +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GUncertain significance
Select item 1259287	NM_000376.3(VDR):c.1024+283G>A	VDR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252227	NM_000376.3(VDR):c.1025-49G>T	VDR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1173094	NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=)	IGF2R	Single nucleotide variant (synonymous variant)	Hepatocellular carcinoma	GUncertain significance
Select item 1173093	NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro)	IGF2R, LOC129997612 (R17P)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma	GUncertain significance
Select item 1043177	NM_001127511.3(APC):c.-142G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 1010774	NM_001127511.3(APC):c.-88T>G	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 971936	NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)	MET (N1392K +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 955497	NM_000038.6(APC):c.7946C>T (p.Pro2649Leu)	APC (P2489L +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 951459	NM_000546.6(TP53):c.677G>C (p.Gly226Ala)	TP53 (G187A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +12 more	GUncertain significance
Select item 946225	NM_000038.6(APC):c.3515A>T (p.His1172Leu)	APC (H1071L +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +6 more	GUncertain significance
Select item 923281	NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)	APC (G1947D +12 more)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GUncertain significance
Select item 915431	NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)	IGF2R, LOC129997612 (R18fs)	Microsatellite (frameshift variant)	Hepatocellular carcinoma	GLikely pathogenic
Select item 824911	NM_000245.4(MET):c.446A>G (p.Asn149Ser)	MET (N149S)	Single nucleotide variant (missense variant +1 more)	Osteofibrous dysplasia +5 more	GUncertain significance
Select item 822326	NM_000038.6(APC):c.835-17A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +6 more	GConflicting classifications of pathogenicity
Select item 802132	NM_000038.6(APC):c.423-4dup	APC	Duplication (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 801962	NM_001904.4(CTNNB1):c.1530dup (p.Val511fs)	CTNNB1, LOC126806659 (V511fs +1 more)	Duplication (frameshift variant)	Hepatocellular carcinoma	GLikely pathogenic
Select item 801961	NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)	CTNNB1 (V349fs +1 more)	Deletion (frameshift variant)	Hepatocellular carcinoma	GPathogenic
Select item 774502	NM_003502.4(AXIN1):c.2522G>A (p.Arg841Gln)	AXIN1 (R805Q +1 more)	Single nucleotide variant (missense variant +1 more)	Caudal duplication +2 more	GBenign/Likely benign
Select item 771011	NM_003502.4(AXIN1):c.2403G>A (p.Arg801=)	AXIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 731212	NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)	CTNNB1	Single nucleotide variant (synonymous variant)	Neoplasm of ovary +7 more	GBenign/Likely benign
Select item 657803	NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)	APC (K987T +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 634682	NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	TP53 (R141G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +13 more	GPathogenic/Likely pathogenic
Select item 625904	NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)	CASP8 (M53I +1 more)	Single nucleotide variant (missense variant +3 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 619767	NM_000038.6(APC):c.2114G>A (p.Ser705Asn)	APC (S687N +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GConflicting classifications of pathogenicity
Select item 618532	NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)	APC (N1263fs +12 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 581975	NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)	APC (Y2366C +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +6 more	GUncertain significance
Select item 568688	NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)	APC (P1203S +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 568449	NM_000245.4(MET):c.762A>C (p.Glu254Asp)	MET (E254D)	Single nucleotide variant (missense variant +1 more)	Papillary renal cell carcinoma type 1 +7 more	GConflicting classifications of pathogenicity
Select item 559636	NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)	CTNNB1, LOC126806659 (R474* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +11 more	GPathogenic
Select item 545962	NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)	APC (C1271* +12 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic
Select item 537673	NM_001127511.3(APC):c.-32C>T	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastric adenocarcinoma and proximal polyposis of the stomach +5 more	GUncertain significance
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	not provided +14 more	GUncertain significance
Select item 526637	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	PIK3CA (K884R)	Single nucleotide variant (missense variant)	Cowden syndrome +16 more	GUncertain significance
Select item 524889	NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)	MET (I1363T +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +7 more	GConflicting classifications of pathogenicity
Select item 524881	NM_000245.4(MET):c.1157T>G (p.Leu386Arg)	MET (L386R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 524880	NM_000245.4(MET):c.1862C>T (p.Thr621Ile)	MET (T621I +1 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 524868	NM_000245.4(MET):c.2375A>G (p.His792Arg)	MET (H810R +2 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma type 1 +5 more	GConflicting classifications of pathogenicity
Select item 499655	NM_001904.4(CTNNB1):c.1494dup (p.His499fs)	CTNNB1, LOC126806659 (H492fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 490261	NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)	APC (N1104S +12 more)	Single nucleotide variant (missense variant)	Colorectal cancer +7 more	GUncertain significance
Select item 489485	NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)	APC (T2225A +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 489471	NM_000038.6(APC):c.5615T>A (p.Val1872Asp)	APC (V1854D +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 486735	NM_000038.6(APC):c.6736G>A (p.Val2246Ile)	APC (V2246I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GConflicting classifications of pathogenicity
Select item 485750	NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)	MET (P1382S +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 485734	NM_000245.4(MET):c.818C>A (p.Thr273Asn)	MET (T273N)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 485090	NM_000038.6(APC):c.3490A>G (p.Ile1164Val)	APC (I1164V +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 482212	NM_000546.6(TP53):c.96+1G>T	TP53	Single nucleotide variant (splice donor variant)	Carcinoma of pancreas +12 more	GPathogenic/Likely pathogenic
Select item 470135	NM_000038.6(APC):c.8282C>T (p.Pro2761Leu)	APC (P2743L +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GUncertain significance
Select item 470090	NM_000038.6(APC):c.74_75del (p.Gln25fs)	APC (Q25fs)	Deletion (frameshift variant +2 more)	not provided +7 more	GPathogenic
Select item 470080	NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)	APC (S2371N +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +7 more	GUncertain significance
Select item 470078	NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)	APC (T2361S +12 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 469979	NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)	APC (K1598I +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +6 more	GUncertain significance
Select item 469859	NM_001127511.3(APC):c.-204A>G	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	APC-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 469849	NM_001127511.3(APC):c.-167G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 469828	NM_001127511.3(APC):c.-128G>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	APC-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 469802	NM_001127511.3(APC):c.1A>G (p.Met1Val)	APC (M1V)	Single nucleotide variant (missense variant +4 more)	Desmoid disease, hereditary +5 more	GUncertain significance
Select item 469731	NM_000038.6(APC):c.2160G>A (p.Met720Ile)	APC (M702I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 469719	NM_000038.6(APC):c.1762G>A (p.Val588Ile)	APC (V570I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +9 more	GConflicting classifications of pathogenicity
Select item 469700	NM_000038.6(APC):c.1193A>G (p.Lys398Arg)	APC (K380R +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 454219	NM_000245.4(MET):c.2684C>T (p.Thr895Met)	MET (T913M +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 454188	NM_000245.4(MET):c.142G>A (p.Ala48Thr)	MET (A48T)	Single nucleotide variant (missense variant +1 more)	Renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 450550	NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)	CTNNB1 (Y333* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 439411	NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=)	APC	Indel (synonymous variant +1 more)	Familial adenomatous polyposis 1 +6 more	GBenign/Likely benign
Select item 438787	NM_003011.4(SET):c.701A>G (p.Glu234Gly)	SET (E247G +3 more)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma	Gother
Select item 433656	NM_000038.6(APC):c.3901dup (p.Thr1301fs)	APC (T1200fs +12 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 428908	NM_000546.6(TP53):c.559+1G>A	TP53	Single nucleotide variant (splice donor variant)	Adrenocortical carcinoma, hereditary +13 more	GPathogenic/Likely pathogenic
Select item 428873	NM_000546.6(TP53):c.389T>C (p.Leu130Pro)	TP53 (L130P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic
Select item 428135	NM_000038.6(APC):c.2527A>G (p.Ser843Gly)	APC (S825G +12 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 419482	NM_000038.6(APC):c.813G>A (p.Met271Ile)	APC (M253I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GUncertain significance
Select item 411909	NM_000245.4(MET):c.143C>G (p.Ala48Gly)	MET (A48G)	Single nucleotide variant (intron variant +1 more)	Autosomal recessive nonsyndromic hearing loss 97 +5 more	GConflicting classifications of pathogenicity
Select item 411899	NM_000245.4(MET):c.2191C>T (p.Arg731Ter)	MET (R731* +1 more)	Single nucleotide variant (nonsense)	Osteofibrous dysplasia +5 more	GUncertain significance
Select item 411894	NM_000245.4(MET):c.799G>A (p.Glu267Lys)	MET (E267K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 97 +6 more	GUncertain significance
Select item 411891	NM_000245.4(MET):c.1933G>A (p.Gly645Arg)	MET (G645R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 411562	NM_000038.6(APC):c.4332A>T (p.Gln1444His)	APC (Q1426H +12 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 411500	NM_000038.6(APC):c.5011G>A (p.Ala1671Thr)	APC (A1653T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GUncertain significance
Select item 411486	NM_000038.6(APC):c.8281C>T (p.Pro2761Ser)	APC (P2761S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 411444	NM_000038.6(APC):c.212G>A (p.Arg71His)	APC (R71H +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +9 more	GConflicting classifications of pathogenicity
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 411364	NM_000038.6(APC):c.791A>G (p.Gln264Arg)	APC (Q246R +5 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +7 more	GConflicting classifications of pathogenicity
Select item 411335	NM_000038.6(APC):c.776G>A (p.Arg259Gln)	APC (R241Q +5 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +9 more	GUncertain significance
Select item 406605	NM_000546.6(TP53):c.760A>G (p.Ile254Val)	TP53 (I215V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 403909	NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)	PIK3CA (P377R)	Single nucleotide variant (missense variant)	PIK3CA-related disorder +14 more	GUncertain significance
Select item 389752	NM_000546.6(TP53):c.-12C>T	TP53	Single nucleotide variant (5 prime UTR variant)	Li-Fraumeni syndrome 1 +13 more	GConflicting classifications of pathogenicity
Select item 376692	NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)	TP53 (Y102N +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 376691	NM_000546.6(TP53):c.700T>C (p.Tyr234His)	TP53 (Y102H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376690	NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)	TP53 (Y102S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376689	NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)	TP53 (Y181D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376688	NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)	TP53 (Y181N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376687	NM_000546.6(TP53):c.658T>C (p.Tyr220His)	TP53 (Y181H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 376686	NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	TP53 (Y166D +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GConflicting classifications of pathogenicity

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