ClinVar for MedGen (Select 356898) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327574	NM_005359.6(SMAD4):c.692G>T (p.Gly231Val)	SMAD4 (G231V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1050750	NM_000455.5(STK11):c.-2_290+1013del	LOC125371447, LOC130062896 +1 more	Deletion (splice donor variant +1 more)	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 1049800	NM_005359.6(SMAD4):c.1183G>C (p.Gly395Arg)	SMAD4 (G395R)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 1049254	NM_000455.5(STK11):c.291-2_374+91del	STK11	Deletion (splice acceptor variant +1 more)	Generalized juvenile polyposis/juvenile polyposis coli	GLikely pathogenic
Select item 1020271	NC_000018.9:g.(?_48556583)_(48603156_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1011182	NC_000018.10:g.(?_51030213)_(51078467_?)dup	SMAD4	Duplication	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GUncertain significance
Select item 1011071	NC_000010.11:g.(?_86755016)_(86756919_?)dup	BMPR1A	Duplication	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1007543	NC_000010.10:g.(?_88598623)_(88649987_?)dup	BMPR1A	Duplication	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GUncertain significance
Select item 987795	NM_005359.6(SMAD4):c.1392del (p.Val465fs)	SMAD4 (V465fs)	Deletion (frameshift variant)	Generalized juvenile polyposis/juvenile polyposis coli	GLikely pathogenic
Select item 981981	NC_000010.11:g.(86838980_86875866)_(86876086_86890061)del	BMPR1A	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 979071	NM_004329.3(BMPR1A):c.1533del (p.Arg511fs)	BMPR1A (R511fs)	Deletion (frameshift variant)	Generalized juvenile polyposis/juvenile polyposis coli	GLikely pathogenic
Select item 978679	NM_004329.3(BMPR1A):c.1114A>T (p.Lys372Ter)	BMPR1A (K372*)	Single nucleotide variant (nonsense)	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 959367	NM_005359.6(SMAD4):c.477G>C (p.Lys159Asn)	SMAD4 (K159N)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 942650	NM_005359.6(SMAD4):c.1308+1704_1565del	SMAD4	Deletion (splice acceptor variant +1 more)	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 933206	NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter)	SMAD4 (G168*)	Single nucleotide variant (nonsense)	Generalized juvenile polyposis/juvenile polyposis coli	GLikely pathogenic
Select item 892539	NM_005359.6(SMAD4):c.*5745T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892482	NM_005359.6(SMAD4):c.*5549A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892481	NM_005359.6(SMAD4):c.*5547A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892266	NM_005359.6(SMAD4):c.*2941A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892096	NM_005359.6(SMAD4):c.*1386G>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 892059	NM_005359.6(SMAD4):c.*936A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 892014	NM_005359.6(SMAD4):c.*363C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891793	NM_005359.6(SMAD4):c.-127G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891345	NM_005359.6(SMAD4):c.*5710T>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891344	NM_005359.6(SMAD4):c.*5631A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891286	NM_005359.6(SMAD4):c.*5542C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891181	NM_005359.6(SMAD4):c.*4262T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891180	NM_005359.6(SMAD4):c.*4066C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891129	NM_005359.6(SMAD4):c.*3226G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 891042	NM_005359.6(SMAD4):c.*2897G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890980	NM_005359.6(SMAD4):c.*2217G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 890916	NM_005359.6(SMAD4):c.*1786A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890862	NM_005359.6(SMAD4):c.*1315G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890822	NM_005359.6(SMAD4):c.*745C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890821	NM_005359.6(SMAD4):c.*720G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890775	NM_005359.6(SMAD4):c.*332A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890774	NM_005359.6(SMAD4):c.*259T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 890628	NM_005359.6(SMAD4):c.*3950A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890563	NM_005359.6(SMAD4):c.*3223A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890485	NM_005359.6(SMAD4):c.*2675A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890411	NM_005359.6(SMAD4):c.*2215C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890356	NM_005359.6(SMAD4):c.*1661C>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890355	NM_005359.6(SMAD4):c.*1659C>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GBenign
Select item 890354	NM_005359.6(SMAD4):c.*1608T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890298	NM_005359.6(SMAD4):c.*1141A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 890254	NM_005359.6(SMAD4):c.*704G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890202	NM_005359.6(SMAD4):c.*245T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 890155	NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn)	SMAD4 (S517N)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +5 more	GUncertain significance
Select item 889979	NM_005359.6(SMAD4):c.-400C>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889978	NM_005359.6(SMAD4):c.-401C>T	SMAD4	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GBenign/Likely benign
Select item 889799	NM_005359.6(SMAD4):c.*5609T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889739	NM_005359.6(SMAD4):c.*5541G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889738	NM_005359.6(SMAD4):c.*5534C>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889607	NM_005359.6(SMAD4):c.*605A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889606	NM_005359.6(SMAD4):c.*580A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889605	NM_005359.6(SMAD4):c.*579G>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889543	NM_005359.6(SMAD4):c.*170A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889477	NM_005359.6(SMAD4):c.1447+15C>A	SMAD4	Single nucleotide variant (intron variant)	Myhre syndrome +3 more	GConflicting classifications of pathogenicity
Select item 889358	NM_005359.6(SMAD4):c.-69G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance
Select item 889298	NM_005359.6(SMAD4):c.-504A>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889297	NM_005359.6(SMAD4):c.-531G>C	SMAD4	Single nucleotide variant (5 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889242	NM_005359.6(SMAD4):c.*6522C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 889181	NM_005359.6(SMAD4):c.*5833G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 889106	NM_005359.6(SMAD4):c.*5557A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889105	NM_005359.6(SMAD4):c.*5555A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889104	NM_005359.6(SMAD4):c.*5553A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 889049	NM_005359.6(SMAD4):c.*5282T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888985	NM_005359.6(SMAD4):c.*4707G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888930	NM_005359.6(SMAD4):c.*3746A>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +2 more	GUncertain significance
Select item 888929	NM_005359.6(SMAD4):c.*3679A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888928	NM_005359.6(SMAD4):c.*3662C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GBenign
Select item 888863	NM_005359.6(SMAD4):c.*3109T>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888777	NM_005359.6(SMAD4):c.*2561G>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888707	NM_005359.6(SMAD4):c.*2099G>A	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888706	NM_005359.6(SMAD4):c.*1874C>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 888651	NM_005359.6(SMAD4):c.*1513A>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888650	NM_005359.6(SMAD4):c.*1502T>C	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888649	NM_005359.6(SMAD4):c.*1499T>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888596	NM_005359.6(SMAD4):c.*1036C>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 888595	NM_005359.6(SMAD4):c.*969A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +2 more	GUncertain significance
Select item 880368	NM_004329.3(BMPR1A):c.*1194A>G	BMPR1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880367	NM_004329.3(BMPR1A):c.*1056A>C	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 880283	NM_004329.3(BMPR1A):c.-468G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 880282	NM_004329.3(BMPR1A):c.-500A>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 880281	NM_004329.3(BMPR1A):c.-534G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 879168	NM_004329.3(BMPR1A):c.*869T>G	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 879167	NM_004329.3(BMPR1A):c.*662A>G	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 878574	NM_004329.3(BMPR1A):c.*654A>G	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GBenign
Select item 878573	NM_004329.3(BMPR1A):c.*641A>C	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 878572	NM_004329.3(BMPR1A):c.*545G>A	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 877547	NM_004329.3(BMPR1A):c.*335G>T	BMPR1A	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 877501	NM_004329.3(BMPR1A):c.-314C>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 877500	NM_004329.3(BMPR1A):c.-336C>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 851605	NM_005359.6(SMAD4):c.787+2T>C	SMAD4	Single nucleotide variant (splice donor variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GLikely pathogenic
Select item 832888	NC_000010.11:g.(?_86668692)_(86954160_?)del	BMPR1A, LDB3 +1 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 832863	NC_000010.11:g.(?_86875868)_(86876095_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome +1 more	GPathogenic
Select item 832708	NC_000010.11:g.(?_86912230)_(86919479_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome +1 more	GLikely pathogenic
Select item 832499	NC_000010.11:g.(?_86755016)_(86923719_?)del	BMPR1A	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 831874	NC_000010.11:g.(?_86755016)_(86923719_?)dup	BMPR1A	Duplication	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 831665	NC_000018.10:g.(?_51029921)_(51078477_?)del	SMAD4	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic

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