ClinVar for Gene (Select 4089) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378930	NC_000018.10:g.51058125del	SMAD4	Deletion	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 3365709	NM_005359.6(SMAD4):c.787+3A>G	SMAD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365257	NM_005359.6(SMAD4):c.1108G>A (p.Val370Ile)	SMAD4 (V370I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364031	NM_005359.6(SMAD4):c.832C>T (p.Pro278Ser)	SMAD4 (P278S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363719	NM_005359.6(SMAD4):c.938C>T (p.Pro313Leu)	SMAD4 (P313L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360611	NM_005359.6(SMAD4):c.1655A>G (p.Asp552Gly)	SMAD4 (D552G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3347489	NM_005359.6(SMAD4):c.427C>A (p.Leu143Ile)	SMAD4 (L143I)	Single nucleotide variant (missense variant +1 more)	SMAD4-related disorder	GUncertain significance
Select item 3341089	R496C	SMAD4	Single nucleotide variant	Myhre syndrome	GPathogenic
Select item 3339679	NM_005359.6(SMAD4):c.604_605insAGATCGGAAGAGCACACGTCGCTCTTCCGATCTTTAG (p.Ala202fs)	SMAD4 (A202fs)	Insertion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 3257817	NM_005359.6(SMAD4):c.1398del (p.Gly467fs)	SMAD4 (G467fs)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3257816	NM_005359.6(SMAD4):c.1255G>C (p.Gly419Arg)	SMAD4 (G419R)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3257815	NM_005359.6(SMAD4):c.1000C>T (p.Gln334Ter)	SMAD4 (Q334*)	Single nucleotide variant (nonsense +1 more)	Neoplasm	OLikely oncogenic
Select item 3257814	NM_005359.6(SMAD4):c.575_576del (p.Thr192fs)	SMAD4 (T192fs)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3257813	NM_005359.6(SMAD4):c.380G>C (p.Cys127Ser)	SMAD4 (C127S)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3257812	NM_005359.6(SMAD4):c.326T>G (p.Leu109Arg)	SMAD4 (L109R)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3257811	NM_005359.6(SMAD4):c.33_45del (p.Ser12fs)	SMAD4 (S12fs)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3256221	NM_005359.6(SMAD4):c.1309-2dup	SMAD4	Duplication (splice acceptor variant)	not specified	GUncertain significance
Select item 3256220	NM_005359.6(SMAD4):c.1140-35T>C	SMAD4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3255066	NM_005359.6(SMAD4):c.1259G>T (p.Arg420Leu)	SMAD4 (R420L)	Single nucleotide variant (missense variant +1 more)	Myhre syndrome	GUncertain significance
Select item 3254386	NM_005359.6(SMAD4):c.753_760delinsGTAG (p.Asn251_Thr254delinsLysTer)	SMAD4	Indel (nonsense +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3254368	NM_005359.6(SMAD4):c.624dup (p.Thr209fs)	SMAD4 (T209fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3254301	NM_005359.6(SMAD4):c.1059C>A (p.Tyr353Ter)	SMAD4 (Y353*)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3254075	NM_005359.6(SMAD4):c.737del (p.Pro246fs)	SMAD4 (P246fs)	Deletion (frameshift variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3242739	NC_000018.9:g.(?_48565515)_(48591839_?)del	SMAD4	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3242738	NC_000018.9:g.(?_48591773)_(48604837_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome	GUncertain significance
Select item 3242737	NC_000018.9:g.(?_48573290)_(48573685_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome	GLikely benign
Select item 3242736	NC_000018.9:g.(?_48604616)_(48604847_?)dup	SMAD4	Duplication	Juvenile polyposis syndrome	GLikely benign
Select item 3242735	NC_000018.9:g.(?_48573290)_(48575704_?)del	SMAD4	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3242733	NC_000018.9:g.(?_48556583)_(48593567_?)del	SMAD4	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3240523	NM_005359.6(SMAD4):c.719T>G (p.Ile240Arg)	SMAD4 (I240R)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3240522	NM_005359.6(SMAD4):c.359A>T (p.Asp120Val)	SMAD4 (D120V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3240521	NM_005359.6(SMAD4):c.899A>T (p.His300Leu)	SMAD4 (H300L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3240520	NM_005359.6(SMAD4):c.1373C>T (p.Ala458Val)	SMAD4 (A458V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3238438	NM_005359.6(SMAD4):c.982T>C (p.Tyr328His)	SMAD4 (Y328H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238437	NM_005359.6(SMAD4):c.955+5G>T	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238436	NM_005359.6(SMAD4):c.920A>T (p.Glu307Val)	SMAD4 (E307V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238434	NM_005359.6(SMAD4):c.881T>C (p.Met294Thr)	SMAD4 (M294T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238433	NM_005359.6(SMAD4):c.881dup (p.Met294fs)	SMAD4 (M294fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3238432	NM_005359.6(SMAD4):c.848A>T (p.His283Leu)	SMAD4 (H283L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238431	NM_005359.6(SMAD4):c.848A>C (p.His283Pro)	SMAD4 (H283P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238430	NM_005359.6(SMAD4):c.840G>A (p.Leu280=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238428	NM_005359.6(SMAD4):c.831A>G (p.Thr277=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238427	NM_005359.6(SMAD4):c.801C>T (p.Thr267=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238426	NM_005359.6(SMAD4):c.757T>A (p.Phe253Ile)	SMAD4 (F253I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238425	NM_005359.6(SMAD4):c.690_692dup (p.Gly231_Ser232insGly)	SMAD4	Duplication (inframe_insertion +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238424	NM_005359.6(SMAD4):c.649A>G (p.Ile217Val)	SMAD4 (I217V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238423	NM_005359.6(SMAD4):c.629G>C (p.Ser210Thr)	SMAD4 (S210T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238422	NM_005359.6(SMAD4):c.626C>A (p.Thr209Asn)	SMAD4 (T209N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238420	NM_005359.6(SMAD4):c.568G>A (p.Ala190Thr)	SMAD4 (A190T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238419	NM_005359.6(SMAD4):c.567T>A (p.Arg189=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238417	NM_005359.6(SMAD4):c.465T>A (p.Ser155Arg)	SMAD4 (S155R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238416	NM_005359.6(SMAD4):c.459A>G (p.Pro153=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238415	NM_005359.6(SMAD4):c.454+5G>A	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238414	NM_005359.6(SMAD4):c.426T>C (p.Asp142=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238413	NM_005359.6(SMAD4):c.416C>G (p.Pro139Arg)	SMAD4 (P139R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238412	NM_005359.6(SMAD4):c.370G>A (p.Asp124Asn)	SMAD4 (D124N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238411	NM_005359.6(SMAD4):c.334_335del (p.His111_Val112insTer)	SMAD4	Deletion (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3238410	NM_005359.6(SMAD4):c.300G>T (p.Arg100Ser)	SMAD4 (R100S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238409	NM_005359.6(SMAD4):c.299G>A (p.Arg100Lys)	SMAD4 (R100K)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238408	NM_005359.6(SMAD4):c.278T>G (p.Val93Gly)	SMAD4 (V93G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238407	NM_005359.6(SMAD4):c.249+3T>C	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238406	NM_005359.6(SMAD4):c.221T>C (p.Ile74Thr)	SMAD4 (I74T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238405	NM_005359.6(SMAD4):c.204T>A (p.Pro68=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238404	NM_005359.6(SMAD4):c.176C>T (p.Thr59Ile)	SMAD4 (T59I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238403	NM_005359.6(SMAD4):c.167C>A (p.Ser56Tyr)	SMAD4 (S56Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238402	NM_005359.6(SMAD4):c.163G>T (p.Asp55Tyr)	SMAD4 (D55Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238401	NM_005359.6(SMAD4):c.1602G>A (p.Gln534=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238400	NM_005359.6(SMAD4):c.1447+5G>A	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238399	NM_005359.6(SMAD4):c.1447+3A>G	SMAD4	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238398	NM_005359.6(SMAD4):c.1419A>T (p.Gly473=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238397	NM_005359.6(SMAD4):c.1374A>G (p.Ala458=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238396	NM_005359.6(SMAD4):c.132A>C (p.Val44=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238395	NM_005359.6(SMAD4):c.130G>C (p.Val44Leu)	SMAD4 (V44L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238394	NM_005359.6(SMAD4):c.1287C>A (p.Ile429=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238393	NM_005359.6(SMAD4):c.1265C>T (p.Pro422Leu)	SMAD4 (P422L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238392	NM_005359.6(SMAD4):c.1254T>A (p.Ala418=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238391	NM_005359.6(SMAD4):c.1245C>T (p.Asp415=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238389	NM_005359.6(SMAD4):c.1188T>C (p.Asp396=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238388	NM_005359.6(SMAD4):c.1151G>T (p.Gly384Val)	SMAD4 (G384V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238387	NM_005359.6(SMAD4):c.1140-2del	SMAD4	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238386	NM_005359.6(SMAD4):c.110A>G (p.Lys37Arg)	SMAD4 (K37R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238385	NM_005359.6(SMAD4):c.1087T>C (p.Cys363Arg)	SMAD4 (C363R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3238384	NM_005359.6(SMAD4):c.1045A>G (p.Thr349Ala)	SMAD4 (T349A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238383	NM_005359.6(SMAD4):c.1040T>C (p.Ile347Thr)	SMAD4 (I347T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3238382	NM_005359.6(SMAD4):c.1029A>G (p.Ser343=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3238381	NM_005359.6(SMAD4):c.1014A>C (p.Thr338=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3148836	NM_005359.6(SMAD4):c.854del (p.Asn285fs)	SMAD4 (N285fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148766	NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter)	SMAD4 (G252*)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148633	NM_005359.6(SMAD4):c.747dup (p.Gln250fs)	SMAD4 (Q250fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148573	NM_005359.6(SMAD4):c.1563_1567del (p.Pro522fs)	SMAD4 (P522fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148572	NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTAG (p.Trp268delinsCysTer)	SMAD4	Insertion (nonsense +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148510	NM_005359.6(SMAD4):c.1309-2A>G	SMAD4	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 3148459	NC_000018.10:g.51076638del	SMAD4	Deletion (genic downstream transcript variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148389	NM_005359.6(SMAD4):c.586dup (p.Ser196fs)	SMAD4 (S196fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148342	NM_005359.6(SMAD4):c.1355del (p.Ala452fs)	SMAD4 (A452fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3148322	NM_005359.6(SMAD4):c.788-1G>A	SMAD4	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 3148177	NM_005359.6(SMAD4):c.1659A>C (p.Ter553Cys)	SMAD4	Single nucleotide variant (stop lost +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 3148080	NM_005359.6(SMAD4):c.788-1G>C	SMAD4	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 3148020	NM_005359.6(SMAD4):c.593del (p.Pro198fs)	SMAD4 (P198fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 3075427	NM_005359.6(SMAD4):c.421A>G (p.Ile141Val)	SMAD4 (I141V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance

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