ClinVar for MedGen (Select 389187) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17131111.	NM_000876.4(IGF2R):c.3574C>T (p.Gln1192Ter) GRCh37: Chr6:160482952 GRCh38: Chr6:160061920	IGF2R	Q1192*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131102.	NM_001017372.3(SLC27A6):c.452_453insAGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGTTTACAC (p.Cys151Ter) GRCh37: Chr5:128302282-128302283 GRCh38: Chr5:128966589-128966590	SLC27A6	C151*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131093.	NM_003502.4(AXIN1):c.260_272del (p.Glu87fs) GRCh37: Chr16:396754-396766 GRCh38: Chr16:346754-346766	AXIN1	E87fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131084.	NM_003502.4(AXIN1):c.275_278del (p.Leu92fs) GRCh37: Chr16:396748-396751 GRCh38: Chr16:346748-346751	AXIN1	L92fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131075.	NM_000038.6(APC):c.765_766dup (p.Asp256fs) GRCh37: Chr5:112137010-112137011 GRCh38: Chr5:112801313-112801314	APC	D197fs, D228fs, D231fs, D238fs, D256fs, D266fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131066.	NM_000508.5(FGA):c.1898ATG[1] (p.Asp634del) GRCh37: Chr4:155505974-155505976 GRCh38: Chr4:154584822-154584824	FGA	D634del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131057.	NM_018406.7(MUC4):c.11625_11720del (p.Gly3877_Thr3908del) GRCh37: Chr3:195506731-195506826 GRCh38: Chr3:195779860-195779955	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131048.	NM_006015.6(ARID1A):c.3524del (p.Pro1175fs) GRCh37: Chr1:27099103 GRCh38: Chr1:26772612	ARID1A, LOC126805670	P1175fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 17131039.	NM_000384.3(APOB):c.9316AAC[1] (p.Asn3107del) GRCh37: Chr2:21230419-21230421 GRCh38: Chr2:21007547-21007549	APOB	N3107del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171310210.	NM_000477.7(ALB):c.494_498del (p.Glu165fs) GRCh37: Chr4:74275083-74275087 GRCh38: Chr4:73409366-73409370	ALB	E165fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171310111.	NM_000477.7(ALB):c.490_492del (p.Tyr164del) GRCh37: Chr4:74275079-74275081 GRCh38: Chr4:73409362-73409364	ALB	Y164del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171310012.	NM_018406.7(MUC4):c.9164_9259del (p.Asn3055_Ala3086del) GRCh37: Chr3:195509192-195509287 GRCh38: Chr3:195782321-195782416	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309913.	NM_018406.7(MUC4):c.9817_9864del (p.Ala3273_Ser3288del) GRCh37: Chr3:195508587-195508634 GRCh38: Chr3:195781716-195781763	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309814.	NM_018406.7(MUC4):c.9889_9905del (p.Leu3297fs) GRCh37: Chr3:195508546-195508562 GRCh38: Chr3:195781675-195781691	MUC4	L3297fs, L4871fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309715.	NM_021738.3(SVIL):c.139G>C (p.Asp47His) GRCh37: Chr10:29843733 GRCh38: Chr10:29554804	SVIL	D47H	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309616.	NM_004883.3(NRG2):c.1989_1990insT (p.Pro664fs) GRCh37: Chr5:139228065-139228066 GRCh38: Chr5:139848480-139848481	NRG2	P598fs, P658fs, P664fs, P666fs, P672fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309517.	NM_152641.4(ARID2):c.4609A>T (p.Arg1537Ter) GRCh37: Chr12:46246515 GRCh38: Chr12:45852732	ARID2	R1537*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309418.	NM_018406.7(MUC4):c.4765_4812del (p.Asp1589_Thr1604del) GRCh37: Chr3:195513639-195513686 GRCh38: Chr3:195786768-195786815	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309319.	NM_203500.2(KEAP1):c.442_508del (p.Gly148fs) GRCh37: Chr19:10610202-10610268 GRCh38: Chr19:10499526-10499592	KEAP1	G148fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309220.	NM_018406.7(MUC4):c.8234_8326del (p.Val2745_Ser2776delinsAla) GRCh37: Chr3:195510125-195510217 GRCh38: Chr3:195783254-195783346	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309121.	NM_018406.7(MUC4):c.11529_11624del (p.Ile3845_Thr3876del) GRCh37: Chr3:195506827-195506922 GRCh38: Chr3:195779956-195780051	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171309022.	NM_004961.4(GABRE):c.64G>T (p.Gly22Ter) GRCh37: ChrX:151138867 GRCh38: ChrX:151970395	GABRE	G22*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308923.	NM_152641.4(ARID2):c.4940_4947del (p.Ser1647fs) GRCh37: Chr12:46285579-46285586 GRCh38: Chr12:45891796-45891803	ARID2	S1647fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308824.	NM_021871.4(FGA):c.675_676del (p.Lys225fs) GRCh37: Chr4:155507905-155507906 GRCh38: Chr4:154586753-154586754	FGA	K225fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308725.	NM_018406.7(MUC4):c.8694_8695insGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCT (p.Pro2898_Leu2899insValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuPro) GRCh37: Chr3:195509756-195509757 GRCh38: Chr3:195782885-195782886	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308626.	NM_000797.4(DRD4):c.806_807insCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCGGCCT (p.Pro270_Arg271insProAspProCysGlyProAspCysAlaProAlaAlaProGlyLeuPro) GRCh37: Chr11:640042-640043 GRCh38: Chr11:640042-640043	DRD4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308527.	NM_000797.4(DRD4):c.807_902del (p.Arg271_Pro302del) GRCh37: Chr11:640004-640099 GRCh38: Chr11:640004-640099	DRD4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308428.	NM_018406.7(MUC4):c.10349_10350insCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATC (p.Thr3460_Asp3461insSerProSerSerAlaSerThrGlyHisThrThrProLeuProValThr) GRCh37: Chr3:195508101-195508102 GRCh38: Chr3:195781230-195781231	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308329.	NM_006015.6(ARID1A):c.2343del (p.His782fs) GRCh37: Chr1:27088734 GRCh38: Chr1:26762243	ARID1A	H782fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308230.	NM_018406.7(MUC4):c.9996_9997insGACACTTCCTCAGCATCCACAGGTCATGCCACCCCTCTTCATGTCACC (p.Thr3332_Ser3333insAspThrSerSerAlaSerThrGlyHisAlaThrProLeuHisValThr) GRCh37: Chr3:195508454-195508455 GRCh38: Chr3:195781583-195781584	MUC4		Hepatocellular carcinoma, Lung cancer	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308131.	NM_018406.7(MUC4):c.10426_10431del (p.Thr3476_Ser3477del) GRCh37: Chr3:195508020-195508025 GRCh38: Chr3:195781149-195781154	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171308032.	NM_001389556.1(UBXN11):c.1464_1541del (p.Gly490_Pro515del) GRCh37: Chr1:26608812-26608889 GRCh38: Chr1:26282321-26282398	UBXN11		Hepatocellular carcinoma, Lung cancer, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307933.	NM_018406.7(MUC4):c.6814_6957del (p.Ser2272_Thr2319del) GRCh37: Chr3:195511494-195511637 GRCh38: Chr3:195784623-195784766	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307834.	NM_021738.3(SVIL):c.2596G>T (p.Gly866Ter) GRCh37: Chr10:29812947 GRCh38: Chr10:29524018	SVIL	G440, G472, G556, G866	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307735.	NM_018406.7(MUC4):c.8477_8572del (p.Phe2826_Val2857del) GRCh37: Chr3:195509879-195509974 GRCh38: Chr3:195783008-195783103	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307636.	NM_004883.3(NRG2):c.247del (p.Ala83fs) GRCh37: Chr5:139422408 GRCh38: Chr5:140042823	NRG2	A83fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307537.	NM_018406.7(MUC4):c.5052_5053insAGCACTTCCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCCTGTCACC (p.Thr1684_Gly1685insSerThrSerSerAlaSerThrGlyHisAlaThrProLeuProValThrAspAsnSerSerValSerThrGlyHisAlaThrProLeuProValThr) GRCh37: Chr3:195513398-195513399 GRCh38: Chr3:195786527-195786528	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307438.	NM_018406.7(MUC4):c.11257_11258insTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCAG (p.Ser3752_Ala3753insValSerThrGlyHisValThrProLeuHisValThrSerProSerSer) GRCh37: Chr3:195507193-195507194 GRCh38: Chr3:195780322-195780323	MUC4		Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307339.	NM_000797.4(DRD4):c.850_851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG (p.Ser284fs) GRCh37: Chr11:640099-640100 GRCh38: Chr11:640099-640100	DRD4	S284fs	Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307240.	NM_018406.7(MUC4):c.12333_12334insACTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACG (p.Thr4111_Pro4112insThrLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSerPheSerSerValSerThrGlyAspThrThr) GRCh37: Chr3:195506117-195506118 GRCh38: Chr3:195779246-195779247	LOC126806930, MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307141.	NM_003502.4(AXIN1):c.37G>T (p.Gly13Ter) GRCh37: Chr16:396989 GRCh38: Chr16:346989	AXIN1	G13*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171307042.	NM_018406.7(MUC4):c.8110_8253del (p.Ser2704_Thr2751del) GRCh37: Chr3:195510198-195510341 GRCh38: Chr3:195783327-195783470	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306943.	NM_000477.7(ALB):c.659dup (p.Arg221fs) GRCh37: Chr4:74276071-74276072 GRCh38: Chr4:73410354-73410355	ALB	R221fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306844.	NM_018406.7(MUC4):c.5052_5053insAGCACTTCCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACC (p.Thr1684_Gly1685insSerThrSerSerAlaSerThrGlyHisAlaThrProLeuProValThrAspAsnSerSerValSerThrGlyHisAlaThrProLeuProValThr) GRCh37: Chr3:195513398-195513399 GRCh38: Chr3:195786527-195786528	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306745.	NM_018406.7(MUC4):c.10262_10263insGGCCACCCCTCTTCCTGTCACCGA (p.His3421delinsGlnAlaThrProLeuProValThrAsp) GRCh37: Chr3:195508188-195508189 GRCh38: Chr3:195781317-195781318	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306646.	NM_152641.4(ARID2):c.3176_3177del (p.Leu1059fs) GRCh37: Chr12:46245082-46245083 GRCh38: Chr12:45851299-45851300	ARID2	L1059fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306547.	NM_018406.7(MUC4):c.5853_5854insTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACACCACC (p.Thr1951_Pro1952insSerLeuProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProValThrIleProSerSerAlaSerSerGlyHisThrThr) GRCh37: Chr3:195512597-195512598 GRCh38: Chr3:195785726-195785727	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306448.	NM_018406.7(MUC4):c.8464_8557del (p.Ala2822fs) GRCh37: Chr3:195509894-195509987 GRCh38: Chr3:195783023-195783116	MUC4	A2822fs, A4091fs	Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306349.	NM_018406.7(MUC4):c.9661_9804del (p.Ser3221_Thr3268del) GRCh37: Chr3:195508647-195508790 GRCh38: Chr3:195781776-195781919	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306250.	NM_001395426.1(PDE4DIP):c.525C>G (p.Ile175Met) GRCh37: Chr1:144952581 GRCh38: Chr1:148931908	PDE4DIP	I109M, I112M, I138M, I159M, I175M, I209M, I246M, I77M	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306151.	NM_018406.7(MUC4):c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA (p.Ser3736_Ala3737insSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer) GRCh37: Chr3:195507242-195507243 GRCh38: Chr3:195780371-195780372	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171306052.	NM_018406.7(MUC4):c.5037_5038insTCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGTCATGCCACC (p.Thr1679_Pro1680insSerLeuProValThrSerThrSerSerAlaSerThrGlyHisAlaThrProLeuProValThrAspAsnSerSerValSerThrGlyHisAlaThr) GRCh37: Chr3:195513413-195513414 GRCh38: Chr3:195786542-195786543	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305953.	NM_018406.7(MUC4):c.5853_5854insTCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTCACACCACC (p.Thr1951_Pro1952insSerLeuProValThrAspAlaSerSerValProThrGlyHisAlaThrSerLeuProValThrIleProSerSerAlaSerSerGlyHisThrThr) GRCh37: Chr3:195512597-195512598 GRCh38: Chr3:195785726-195785727	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305854.	NM_018406.7(MUC4):c.8936_9031del (p.Asp2979_Pro3010del) GRCh37: Chr3:195509420-195509515 GRCh38: Chr3:195782549-195782644	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305755.	NM_018406.7(MUC4):c.10190_10285del (p.Asn3397_Thr3428del) GRCh37: Chr3:195508166-195508261 GRCh38: Chr3:195781295-195781390	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305656.	NM_003194.5(TBP):c.231_246del (p.Gln77fs) GRCh37: Chr6:170871055-170871070 GRCh38: Chr6:170561967-170561982	LOC108663996, TBP	Q57fs, Q77fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305557.	NM_018406.7(MUC4):c.3310_3453del (p.Ser1104_Thr1151del) GRCh37: Chr3:195514998-195515141 GRCh38: Chr3:195788127-195788270	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305458.	NM_018406.7(MUC4):c.7701_7702insTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCGACACTTCC (p.Ser2567_Ala2568insSerValSerThrGlyHisAlaThrProLeuHisValThrAspThrSer) GRCh37: Chr3:195510749-195510750 GRCh38: Chr3:195783878-195783879	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305359.	NM_018406.7(MUC4):c.8974_8975insCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCC (p.Thr2991_Leu2992insProLeuProValThrAspThrSerSerAlaSerThrGlyHisAlaThr) GRCh37: Chr3:195509476-195509477 GRCh38: Chr3:195782605-195782606	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305260.	NM_130760.3(MADCAM1):c.717_718insCCTCCCAACACCACCTCCCCGGAG (p.Glu239_Ser240insProProAsnThrThrSerProGlu) GRCh37: Chr19:501701-501702 GRCh38: Chr19:501701-501702	MADCAM1, MADCAM1-AS1		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305161.	NM_018406.7(MUC4):c.11188_11189insCTGTCACCAGCCCTTCCTCATCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTC (p.Leu3729_His3730insProValThrSerProSerSerSerSerThrGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeu) GRCh37: Chr3:195507262-195507263 GRCh38: Chr3:195780391-195780392	MUC4		Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171305062.	NM_018406.7(MUC4):c.11208_11209insTCATCCGCAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA (p.Ser3736_Ala3737insSerSerAlaGlyGlnAlaThrProLeuProValThrSerThrSerSerValSerThrGlyHisValThrProLeuHisValThrSerProSerSer) GRCh37: Chr3:195507242-195507243 GRCh38: Chr3:195780371-195780372	MUC4		Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304963.	NM_014208.3(DSPP):c.3165_3166insG (p.Asn1056fs) GRCh37: Chr4:88536979-88536980 GRCh38: Chr4:87615827-87615828	DSPP	N1056fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304864.	NM_003194.5(TBP):c.231_255del (p.Gln77fs) GRCh37: Chr6:170871055-170871079 GRCh38: Chr6:170561967-170561991	LOC108663996, TBP	Q57fs, Q77fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304765.	NM_018406.7(MUC4):c.12254_12255insCACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCA (p.Asp4085_Ala4086insThrSerSerAlaSerThrGlyHisAlaThrProLeuHis) GRCh37: Chr3:195506196-195506197 GRCh38: Chr3:195779325-195779326	LOC126806930, MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304666.	NM_006015.6(ARID1A):c.5895_5902del (p.Pro1966fs) GRCh37: Chr1:27106284-27106291 GRCh38: Chr1:26779793-26779800	ARID1A	P1749fs, P1966fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304567.	NM_018406.7(MUC4):c.10592_10593insAGGTCACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCAC (p.Ser3541_Leu3542insPheSerSerValSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerValSerThrGlyHisAlaThrProLeuProValThrSer) GRCh37: Chr3:195507858-195507859 GRCh38: Chr3:195780987-195780988	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304468.	NM_018406.7(MUC4):c.10688_10689insCGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCAC (p.Gly3564_Gln3565insHisAlaThrProLeuProValThrAspThrSerSerAlaSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGly) GRCh37: Chr3:195507762-195507763 GRCh38: Chr3:195780891-195780892	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304369.	NM_003502.4(AXIN1):c.333T>A (p.Cys111Ter) GRCh37: Chr16:396693 GRCh38: Chr16:346693	AXIN1	C111*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304270.	NM_004961.4(GABRE):c.385G>T (p.Glu129Ter) GRCh37: ChrX:151131073 GRCh38: ChrX:151962601	GABRE	E129*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304171.	NM_018406.7(MUC4):c.6780_6875del (p.Asp2261_Thr2292del) GRCh37: Chr3:195511576-195511671 GRCh38: Chr3:195784705-195784800	MUC4		Lung cancer, Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171304072.	NM_018406.7(MUC4):c.7117_7212del (p.Ser2373_Thr2404del) GRCh37: Chr3:195511239-195511334 GRCh38: Chr3:195784368-195784463	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303973.	NM_018406.7(MUC4):c.7701_7702insTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACC (p.Ser2567_Ala2568insSerValSerThrGlyHisAlaThrProLeuHisValThrSerProSerSerAlaSerThrGlyHisAlaThrProLeuProValThr) GRCh37: Chr3:195510749-195510750 GRCh38: Chr3:195783878-195783879	MUC4		Hepatocellular carcinoma, Lung cancer	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303874.	NM_018406.7(MUC4):c.8933_9076del (p.Pro2978_Leu3025del) GRCh37: Chr3:195509375-195509518 GRCh38: Chr3:195782504-195782647	MUC4		Hepatocellular carcinoma, Lung cancer	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303775.	NM_130760.3(MADCAM1):c.761AGGAGCCTCCCGACACCACCTCCC[3] (p.Ser261_Pro262insGlnGluProProAspThrThrSerGlnGluProProAspThrThrSer) GRCh37: Chr19:501743-501744 GRCh38: Chr19:501743-501744	MADCAM1, MADCAM1-AS1		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303676.	NM_004883.3(NRG2):c.73AGC[5] (p.Ser30del) GRCh37: Chr5:139422565-139422567 GRCh38: Chr5:140042980-140042982	NRG2	S30del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303577.	NM_004594.3(SLC9A5):c.2270del (p.Cys757fs) GRCh37: Chr16:67304692 GRCh38: Chr16:67270789	SLC9A5	C461fs, C462fs, C656fs, C756fs, C757fs, V632fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303478.	NM_004594.3(SLC9A5):c.2261C>G (p.Ser754Cys) GRCh37: Chr16:67304683 GRCh38: Chr16:67270780	SLC9A5	P629A, S458C, S459C, S653C, S753C, S754C	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303379.	NM_000596.4(IGFBP1):c.232T>G (p.Cys78Gly) GRCh37: Chr7:45928483 GRCh38: Chr7:45888884	IGFBP1	C78G	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303280.	NM_000876.4(IGF2R):c.413T>A (p.Leu138Gln) GRCh37: Chr6:160430165 GRCh38: Chr6:160009133	IGF2R	L138Q	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303181.	NM_000546.6(TP53):c.109del (p.Ser37fs) GRCh37: Chr17:7579578 GRCh38: Chr17:7676260	TP53	S37fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171303082.	NM_001395426.1(PDE4DIP):c.4261C>T (p.Arg1421Ter) GRCh37: Chr1:144879387 GRCh38: Chr1:149005085	PDE4DIP	R1310, R1311, R1355, R1381, R1384, R1407, R1420, R1421, R1455, R1491, R1492, R1517, R1518*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302983.	NM_016151.4(TAOK2):c.1430G>T (p.Arg477Leu) GRCh37: Chr16:29996541 GRCh38: Chr16:29985220	TAOK2	R477L	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302884.	NM_000038.6(APC):c.7346G>T (p.Ser2449Ile) GRCh37: Chr5:112178637 GRCh38: Chr5:112842940	APC	S2065I, S2166I, S2289I, S2320I, S2323I, S2348I, S2358I, S2366I, S2390I, S2408I, S2421I, S2424I, S2431I, S2439I, S2442I, S2449I, S2459I, S2467I, S2477I	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302785.	NM_001206998.2(ZNRF3):c.1651AGC[5] (p.Ser557del) GRCh37: Chr22:29445819-29445821 GRCh38: Chr22:29049831-29049833	ZNRF3	S457del, S557del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302686.	NM_018406.7(MUC4):c.11691_11738del (p.Arg3900_Thr3915del) GRCh37: Chr3:195506713-195506760 GRCh38: Chr3:195779842-195779889	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302587.	NM_014208.3(DSPP):c.3264_3317del (p.Asn1092_Ser1109del) GRCh37: Chr4:88537073-88537126 GRCh38: Chr4:87615921-87615974	DSPP		Hepatocellular carcinoma, Lung cancer	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302488.	NM_203500.2(KEAP1):c.512G>A (p.Cys171Tyr) GRCh37: Chr19:10610198 GRCh38: Chr19:10499522	KEAP1	C171Y	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302389.	NM_004883.3(NRG2):c.97AGC[8] (p.Ser41del) GRCh37: Chr5:139422532-139422534 GRCh38: Chr5:140042947-140042949	NRG2	S41del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302290.	NM_003502.4(AXIN1):c.1651G>T (p.Glu551Ter) GRCh37: Chr16:347855 GRCh38: Chr16:297855	AXIN1	E551*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302191.	NM_152641.4(ARID2):c.1177G>T (p.Glu393Ter) GRCh37: Chr12:46231337 GRCh38: Chr12:45837554	ARID2	E393*	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171302092.	NM_000384.3(APOB):c.6181G>T (p.Asp2061Tyr) GRCh37: Chr2:21233559 GRCh38: Chr2:21010687	APOB	D2061Y	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171301993.	NM_018406.7(MUC4):c.8221del (p.Glu2741fs) GRCh37: Chr3:195510230 GRCh38: Chr3:195783359	MUC4	D3962fs, E2741fs	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171301894.	NM_014208.3(DSPP):c.3291_3293del (p.Asp1098del) GRCh37: Chr4:88537105-88537107 GRCh38: Chr4:87615953-87615955	DSPP	D1098del	Hepatocellular carcinoma, Lung cancer	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171301795.	NM_018406.7(MUC4):c.3098_3193del (p.Glu1033_Ser1064del) GRCh37: Chr3:195515258-195515353 GRCh38: Chr3:195788387-195788482	MUC4		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171301696.	NM_001003891.3(MED15):c.534GCA[6] (p.Gln188del) GRCh37: Chr22:20918817-20918819 GRCh38: Chr22:20564530-20564532	MED15	Q117del, Q162del, Q188del	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171301597.	NM_018406.7(MUC4):c.6861_7003del (p.Pro2288fs) GRCh37: Chr3:195511448-195511590 GRCh38: Chr3:195784577-195784719	MUC4	P2288fs, P3349fs	Lung cancer, Hepatocellular carcinoma, Small cell lung carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171301498.	NM_018406.7(MUC4):c.7005del (p.Pro2336fs) GRCh37: Chr3:195511446 GRCh38: Chr3:195784575	MUC4	P2336fs, P3397fs	Hepatocellular carcinoma, Small cell lung carcinoma, Lung cancer	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 171301399.	NM_001170.3(AQP7):c.582C>A (p.Asn194Lys) GRCh37: Chr9:33385808 GRCh38: Chr9:33385810	AQP7	N137K, N193K, N194K	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided
Select item 1713012100.	NM_080386.4(TUBA3D):c.466C>T (p.Arg156Trp) GRCh37: Chr2:132237732 GRCh38: Chr2:131480159	MZT2A, TUBA3D	R156W	Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)	no assertion criteria provided

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