"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SMAD4"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 486446	NM_005359.6(SMAD4):c.-3C>G	SMAD4	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GUncertain significance
Select item 492736	NM_005359.6(SMAD4):c.249+24A>G	SMAD4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 405496	NM_005359.6(SMAD4):c.263_267del (p.Lys88fs)	SMAD4	Deletion (frameshift variant)	Juvenile polyposis syndrome +3 more	GPathogenic
Select item 24799	NM_005359.6(SMAD4):c.354G>A (p.Ala118=)	SMAD4	Single nucleotide variant (synonymous variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +7 more	GBenign/Likely benign
Select item 460549	NM_005359.6(SMAD4):c.380G>A (p.Cys127Tyr)	SMAD4 (C127Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 139218	NM_005359.6(SMAD4):c.455-6A>G	SMAD4	Single nucleotide variant (intron variant)	Myhre syndrome +6 more	GBenign
Select item 41789	NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	SMAD4 (R189C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 215844	NM_005359.6(SMAD4):c.693C>T (p.Gly231=)	SMAD4	Single nucleotide variant (synonymous variant)	Generalized juvenile polyposis/juvenile polyposis coli +6 more	GBenign/Likely benign
Select item 185388	NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)	SMAD4 (Q248L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 486978	NM_005359.6(SMAD4):c.752del (p.Asn251fs)	SMAD4	Deletion (frameshift variant)	Juvenile polyposis syndrome +3 more	GPathogenic
Select item 935512	NM_005359.6(SMAD4):c.828C>G (p.Tyr276Ter)	SMAD4 (Y276*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 492739	NM_005359.6(SMAD4):c.904+45dup	SMAD4	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 492737	NM_005359.6(SMAD4):c.904+29A>T	SMAD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 492738	NM_005359.6(SMAD4):c.904+45del	SMAD4	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 183879	NM_005359.6(SMAD4):c.940A>G (p.Ile314Val)	SMAD4 (I314V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 856446	NM_005359.6(SMAD4):c.952C>G (p.Pro318Ala)	SMAD4 (P318A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 492740	NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)	SMAD4 (Y353*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8543	NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	SMAD4 (R361C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 132693	NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)	SMAD4	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 142253	NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	SMAD4	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 127949	NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)	SMAD4	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 30150	NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4 (I500V)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +9 more	GPathogenic
Select item 30149	NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	SMAD4 (I500T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 139220	NM_005359.6(SMAD4):c.*11C>T	SMAD4	Single nucleotide variant (3 prime UTR variant)	Myhre syndrome +6 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24