ClinVar for Gene (Select 4089) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 2104

<< First< Prev

Page of 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3075222	NM_005359.6(SMAD4):c.1444A>C (p.Ile482Leu)	SMAD4 (I482L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3075009	NM_005359.6(SMAD4):c.1657T>C (p.Ter553Arg)	SMAD4	Single nucleotide variant (stop lost +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3074996	NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGC	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3074965	NM_005359.6(SMAD4):c.91G>C (p.Glu31Gln)	SMAD4 (E31Q)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3074596	NM_005359.6(SMAD4):c.244C>G (p.Leu82Val)	SMAD4 (L82V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3074396	NM_005359.6(SMAD4):c.895G>C (p.Gly299Arg)	SMAD4 (G299R)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3074351	NM_005359.6(SMAD4):c.-7del	SMAD4	Deletion (5 prime UTR variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3074175	NM_005359.6(SMAD4):c.216T>C (p.Val72=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely benign
Select item 3073106	NM_005359.6(SMAD4):c.310C>G (p.Leu104Val)	SMAD4 (L104V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3072842	NM_005359.6(SMAD4):c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3072158	NM_005359.6(SMAD4):c.524A>G (p.Glu175Gly)	SMAD4 (E175G)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3072140	NM_005359.6(SMAD4):c.1639del (p.Asp547fs)	SMAD4 (D547fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3071253	NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGC	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070849	NM_005359.6(SMAD4):c.556C>A (p.Pro186Thr)	SMAD4 (P186T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070743	NM_005359.6(SMAD4):c.1447+6_1447+7insGTTG	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070724	NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTAT	SMAD4	Insertion (splice donor variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070454	NM_005359.6(SMAD4):c.570A>G (p.Ala190=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070255	NM_005359.6(SMAD4):c.830C>T (p.Thr277Ile)	SMAD4 (T277I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070213	NM_005359.6(SMAD4):c.1295G>C (p.Ser432Thr)	SMAD4 (S432T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070201	NM_005359.6(SMAD4):c.1309-13T>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070138	NM_005359.6(SMAD4):c.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070004	NM_005359.6(SMAD4):c.1541C>T (p.Pro514Leu)	SMAD4 (P514L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3070003	NM_005359.6(SMAD4):c.1540C>T (p.Pro514Ser)	SMAD4 (P514S)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3069982	NM_005359.6(SMAD4):c.15T>C (p.Ser5=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely benign
Select item 3069725	NM_005359.6(SMAD4):c.479A>T (p.Asp160Val)	SMAD4 (D160V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3069368	NM_005359.6(SMAD4):c.905-7T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely benign
Select item 3069358	NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3069356	NM_005359.6(SMAD4):c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3069345	NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3069295	NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGC	SMAD4	Insertion (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 3029099	NM_005359.6(SMAD4):c.1139+278dup	SMAD4	Duplication (intron variant)	SMAD4-related condition	GLikely benign
Select item 3023504	NM_005359.6(SMAD4):c.663C>T (p.Ser221=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 3019377	NM_005359.6(SMAD4):c.259C>T (p.Arg87Trp)	SMAD4 (R87W)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3012158	NM_005359.6(SMAD4):c.801C>G (p.Thr267=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2999968	NM_005359.6(SMAD4):c.1165T>C (p.Leu389=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2999924	NM_005359.6(SMAD4):c.811A>G (p.Ser271Gly)	SMAD4 (S271G)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2995871	NM_005359.6(SMAD4):c.1334G>A (p.Arg445Gln)	SMAD4 (R445Q)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2994825	NM_005359.6(SMAD4):c.1408C>A (p.Pro470Thr)	SMAD4 (P470T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2993844	NM_005359.6(SMAD4):c.1145A>C (p.His382Pro)	SMAD4 (H382P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2993835	NM_005359.6(SMAD4):c.453T>C (p.Asn151=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2981611	NM_005359.6(SMAD4):c.508C>T (p.Pro170Ser)	SMAD4 (P170S)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2975307	NM_005359.6(SMAD4):c.460T>C (p.Ser154Pro)	SMAD4 (S154P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2966944	NM_005359.6(SMAD4):c.1504A>C (p.Arg502=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2965602	NM_005359.6(SMAD4):c.260G>A (p.Arg87Gln)	SMAD4 (R87Q)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2964367	NM_005359.6(SMAD4):c.1623T>C (p.His541=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2962588	NM_005359.6(SMAD4):c.1450C>G (p.Leu484Val)	SMAD4 (L484V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2958938	NM_005359.6(SMAD4):c.504A>T (p.Gly168=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2954585	NM_005359.6(SMAD4):c.1118C>T (p.Thr373Ile)	SMAD4 (T373I)	Single nucleotide variant (non-coding transcript variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2919899	NM_005359.6(SMAD4):c.1447+13T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2910020	NM_005359.6(SMAD4):c.43G>T (p.Ala15Ser)	SMAD4 (A15S)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2908114	NM_005359.6(SMAD4):c.956-14T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2907990	NM_005359.6(SMAD4):c.956-15A>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2898905	NM_005359.6(SMAD4):c.250-19T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2891788	NM_005359.6(SMAD4):c.1563A>T (p.Thr521=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2886933	NM_005359.6(SMAD4):c.425-19T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2883568	NM_005359.6(SMAD4):c.788-13C>G	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2882926	NM_005359.6(SMAD4):c.1498A>C (p.Ile500Leu)	SMAD4 (I500L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2877793	NM_005359.6(SMAD4):c.905-11C>T	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2875960	NM_005359.6(SMAD4):c.162G>A (p.Leu54=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2871400	NM_005359.6(SMAD4):c.632C>T (p.Thr211Ile)	SMAD4 (T211I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2870288	NM_005359.6(SMAD4):c.878C>A (p.Pro293His)	SMAD4 (P293H)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2865542	NM_005359.6(SMAD4):c.166T>G (p.Ser56Ala)	SMAD4 (S56A)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2864292	NM_005359.6(SMAD4):c.700dup (p.Ser234fs)	SMAD4 (S234fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2863344	NM_005359.6(SMAD4):c.653C>G (p.Pro218Arg)	SMAD4 (P218R)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2862623	NM_005359.6(SMAD4):c.904+16_904+61del	SMAD4	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2862501	NM_005359.6(SMAD4):c.1309-2del	SMAD4	Deletion (splice acceptor variant)	Juvenile polyposis syndrome	GBenign
Select item 2862403	NM_005359.6(SMAD4):c.936_939del (p.Pro313fs)	SMAD4 (P313fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2860508	NM_005359.6(SMAD4):c.371A>G (p.Asp124Gly)	SMAD4 (D124G)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2859463	NM_005359.6(SMAD4):c.1628T>C (p.Met543Thr)	SMAD4 (M543T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2858733	NM_005359.6(SMAD4):c.841C>G (p.Pro281Ala)	SMAD4 (P281A)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2858383	NM_005359.6(SMAD4):c.354G>T (p.Ala118=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2857105	NM_005359.6(SMAD4):c.428T>C (p.Leu143Pro)	SMAD4 (L143P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2856526	NM_005359.6(SMAD4):c.1583A>G (p.His528Arg)	SMAD4 (H528R)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2852697	NM_005359.6(SMAD4):c.1448-25_1448-18del	SMAD4	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2852502	NM_005359.6(SMAD4):c.1447+18T>A	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2852333	NM_005359.6(SMAD4):c.665C>T (p.Thr222Ile)	SMAD4 (T222I)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2851132	NM_005359.6(SMAD4):c.363A>G (p.Leu121=)	SMAD4	Single nucleotide variant (non-coding transcript variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2850556	NM_005359.6(SMAD4):c.860dup (p.His287fs)	SMAD4 (H287fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2848021	NM_005359.6(SMAD4):c.938C>A (p.Pro313His)	SMAD4 (P313H)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2841139	NM_005359.6(SMAD4):c.906G>C (p.Trp302Cys)	SMAD4 (W302C)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2841060	NM_005359.6(SMAD4):c.895_896del (p.Gly299fs)	SMAD4 (G299fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2840181	NM_005359.6(SMAD4):c.121G>T (p.Glu41Ter)	SMAD4 (E41*)	Single nucleotide variant (nonsense +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2838584	NM_005359.6(SMAD4):c.885G>C (p.Pro295=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2837253	NM_005359.6(SMAD4):c.1309-14T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2835110	NM_005359.6(SMAD4):c.598C>G (p.Leu200Val)	SMAD4 (L200V)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2832277	NM_005359.6(SMAD4):c.541A>C (p.Thr181Pro)	SMAD4 (T181P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2829090	NM_005359.6(SMAD4):c.424+2T>C	SMAD4	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2827104	NM_005359.6(SMAD4):c.819dup (p.Ala274fs)	SMAD4 (A274fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2824002	NM_005359.6(SMAD4):c.1036C>A (p.Pro346Thr)	SMAD4 (P346T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2823377	NM_005359.6(SMAD4):c.96T>C (p.Ser32=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2820940	NM_005359.6(SMAD4):c.402A>C (p.Glu134Asp)	SMAD4 (E134D)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2818842	NM_005359.6(SMAD4):c.1287del (p.Tyr430fs)	SMAD4 (Y430fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2818675	NM_005359.6(SMAD4):c.250-1G>T	SMAD4	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2817818	NM_005359.6(SMAD4):c.1448-17C>T	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2817483	NM_005359.6(SMAD4):c.1264C>T (p.Pro422Ser)	SMAD4 (P422S)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2816726	NM_005359.6(SMAD4):c.1140-13T>C	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2813548	NM_005359.6(SMAD4):c.323A>G (p.Glu108Gly)	SMAD4 (E108G)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2811473	NM_005359.6(SMAD4):c.1307A>C (p.Lys436Thr)	SMAD4 (K436T)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2811162	NM_005359.6(SMAD4):c.472G>A (p.Val158Met)	SMAD4 (V158M)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance

<< First< Prev

Page of 22