ClinVar for MedGen (Select 331400) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 2800149	NM_005359.6(SMAD4):c.742C>G (p.Gln248Glu)	SMAD4 (Q248E)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 2782009	NM_005359.6(SMAD4):c.5A>C (p.Asp2Ala)	SMAD4 (D2A)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 2679003	NM_005359.6(SMAD4):c.1515dup (p.Val506fs)	SMAD4 (V506fs)	Duplication (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 2679001	NM_005359.6(SMAD4):c.455-2A>T	SMAD4	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 2679000	NM_005359.6(SMAD4):c.788-16G>A	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 2678999	NM_005359.6(SMAD4):c.31A>C (p.Thr11Pro)	SMAD4 (T11P)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 2678998	NM_005359.6(SMAD4):c.592C>G (p.Pro198Ala)	SMAD4 (P198A)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 2678997	NM_005359.6(SMAD4):c.1631C>T (p.Pro544Leu)	SMAD4 (P544L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 2674425	NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)	SMAD4 (S234*)	Duplication (nonsense +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GPathogenic
Select item 2626886	NM_005359.6(SMAD4):c.875del (p.Pro292fs)	SMAD4 (P292fs)	Deletion (frameshift variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2431333	NM_005359.6(SMAD4):c.513_514del (p.Leu172fs)	SMAD4 (L172fs)	Deletion (frameshift variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 2431265	NM_005359.6(SMAD4):c.1552dup (p.Ile518fs)	SMAD4 (I518fs)	Duplication (frameshift variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GPathogenic
Select item 2099360	NM_005359.6(SMAD4):c.522T>C (p.Thr174=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GLikely benign
Select item 1953556	NM_005359.6(SMAD4):c.617C>G (p.Ser206Cys)	SMAD4 (S206C)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 1805611	NM_005359.6(SMAD4):c.293T>G (p.Leu98Arg)	SMAD4 (L98R)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GUncertain significance
Select item 1787735	NM_005359.6(SMAD4):c.220A>G (p.Ile74Val)	SMAD4 (I74V)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 1776902	NM_005359.6(SMAD4):c.1634T>C (p.Ile545Thr)	SMAD4 (I545T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1776055	NM_005359.6(SMAD4):c.1599C>G (p.Leu533=)	SMAD4	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome +3 more	GLikely benign
Select item 1774939	NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter)	SMAD4 (Q516*)	Single nucleotide variant (nonsense)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1756201	NM_005359.6(SMAD4):c.692del (p.Gly231fs)	SMAD4 (G231fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 1613478	NM_005359.6(SMAD4):c.591C>T (p.Thr197=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GLikely benign
Select item 1550927	NM_005359.6(SMAD4):c.711G>T (p.Leu237=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1509330	NM_005359.6(SMAD4):c.249+1G>T	SMAD4	Single nucleotide variant (splice donor variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GLikely pathogenic
Select item 1496484	NM_005359.6(SMAD4):c.821C>T (p.Ala274Val)	SMAD4 (A274V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1490266	NM_005359.6(SMAD4):c.758T>A (p.Phe253Tyr)	SMAD4 (F253Y)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 1461164	NM_005359.6(SMAD4):c.908C>A (p.Pro303His)	SMAD4 (P303H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 1428629	NM_005359.6(SMAD4):c.1189G>A (p.Val397Ile)	SMAD4 (V397I)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1388856	NM_005359.6(SMAD4):c.530A>G (p.His177Arg)	SMAD4 (H177R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 1372436	NM_005359.6(SMAD4):c.1523del (p.Gly508fs)	SMAD4 (G508fs)	Deletion (frameshift variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1134889	NM_005359.6(SMAD4):c.609A>G (p.Pro203=)	SMAD4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1130575	NM_005359.6(SMAD4):c.915C>T (p.His305=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GLikely benign
Select item 1067853	NM_005359.6(SMAD4):c.1308+2T>G	SMAD4	Single nucleotide variant (splice donor variant)	Juvenile polyposis syndrome +1 more	GLikely pathogenic
Select item 1041597	NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg)	SMAD4 (Q311R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1032991	NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer)	SMAD4	Insertion (nonsense)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	GLikely pathogenic
Select item 1003483	NM_005359.6(SMAD4):c.955+5G>A	SMAD4	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 1003211	NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)	SMAD4 (Y276F)	Single nucleotide variant (missense variant)	Myhre syndrome +6 more	GUncertain significance
Select item 982455	NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter)	SMAD4 (W101*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 954869	NM_005359.6(SMAD4):c.844C>T (p.His282Tyr)	SMAD4 (H282Y)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more	GUncertain significance
Select item 926815	NM_005359.6(SMAD4):c.1101C>A (p.Leu367=)	SMAD4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 923708	NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly)	SMAD4 (S483G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 922880	NM_005359.6(SMAD4):c.740G>A (p.Gly247Glu)	SMAD4 (G247E)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more	GUncertain significance
Select item 922557	NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)	SMAD4 (M543I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
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

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