Related gene-specific medical variations for Gene (Select 4088) - ClinVar

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

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3225165	NM_005902.4(SMAD3):c.11T>C (p.Ile4Thr)	LOC130057352, SMAD3 (I4T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075380	NM_005902.4(SMAD3):c.2T>C (p.Met1Thr)	LOC130057352, SMAD3 (M1T)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 3075115	NM_005902.4(SMAD3):c.-5C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3074714	NM_005902.4(SMAD3):c.24T>G (p.Thr8=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3072697	NM_005902.4(SMAD3):c.-5del	LOC130057352, SMAD3	Deletion (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070801	NM_005902.4(SMAD3):c.-5C>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 3070747	NM_005902.4(SMAD3):c.13C>T (p.Leu5=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome	GLikely benign
Select item 3016331	NM_005902.4(SMAD3):c.41G>C (p.Arg14Pro)	LOC130057352, SMAD3 (R14P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2919472	NM_005902.4(SMAD3):c.33C>T (p.Ile11=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely benign
Select item 2906967	NM_005902.4(SMAD3):c.25C>T (p.Pro9Ser)	LOC130057352, SMAD3 (P9S)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GUncertain significance
Select item 2582529	NM_005902.4(SMAD3):c.295A>G (p.Ser99Gly)	SMAD3 (S50G +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 2452416	NM_005902.4(SMAD3):c.5C>G (p.Ser2Trp)	LOC130057352, SMAD3 (S2W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2141281	NM_005902.4(SMAD3):c.36G>C (p.Val12=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2029638	NM_005902.4(SMAD3):c.15G>A (p.Leu5=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1810760	NM_005902.4(SMAD3):c.28C>G (p.Pro10Ala)	LOC130057352, SMAD3 (P10A)	Single nucleotide variant (missense variant)	Broad distal phalanx of the thumb	GLikely pathogenic
Select item 1798636	NM_005902.4(SMAD3):c.29dup (p.Ile11fs)	LOC130057352, SMAD3 (I11fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 1727630	NM_005902.4(SMAD3):c.30G>T (p.Pro10=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1711384	NM_005902.4(SMAD3):c.30G>A (p.Pro10=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676550	NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp)	SMAD3 (E32D)	Single nucleotide variant	not provided +2 more	GUncertain significance
Select item 1427948	NM_005902.4(SMAD3):c.23C>G (p.Thr8Ser)	LOC130057352, SMAD3 (T8S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1174530	NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)	LOC130057352, SMAD3 (M1I)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 1172631	NM_005902.4(SMAD3):c.1A>G (p.Met1Val)	LOC130057352, SMAD3 (M1V)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm	GPathogenic
Select item 1172449	NM_005902.4(SMAD3):c.-17_-15delinsACA	LOC130057352, SMAD3	Indel (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 993641	NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)	SMAD3 (P51L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 930360	NM_005902.4(SMAD3):c.1A>T (p.Met1Leu)	LOC130057352, SMAD3 (M1L)	Single nucleotide variant (missense variant +1 more)	Aneurysm-osteoarthritis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 924233	NM_005902.4(SMAD3):c.-2C>G	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 922300	NM_005902.4(SMAD3):c.-10C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 920433	NM_005902.4(SMAD3):c.21del (p.Phe7fs)	LOC130057352, SMAD3 (F7fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 884686	NM_005902.4(SMAD3):c.-38C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 811543	NM_005902.4(SMAD3):c.207-14637C>T	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome	GBenign
Select item 770040	NM_005902.4(SMAD3):c.6G>A (p.Ser2=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 701973	NM_005902.4(SMAD3):c.12C>T (p.Ile4=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 636409	NM_005902.4(SMAD3):c.398del (p.Pro133fs)	SMAD3 (P28fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 636368	NM_005902.4(SMAD3):c.871+3A>G	SMAD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 629399	NM_005902.4(SMAD3):c.36G>A (p.Val12=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 591525	NM_005902.4(SMAD3):c.1035C>G (p.Asn345Lys)	SMAD3 (N345K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591503	NM_005902.4(SMAD3):c.244G>A (p.Gly82Arg)	SMAD3 (G82R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 564213	GRCh37/hg19 15q22.31-22.33(chr15:67151901-67423565)x3	SMAD3	Copy number gain	not provided	GUncertain significance
Select item 549889	NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter)	SMAD3 (E239* +3 more)	Single nucleotide variant (nonsense)	Congenital aneurysm of ascending aorta	Grisk factor
Select item 543914	NM_005902.4(SMAD3):c.27C>T (p.Pro9=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 520186	NM_005902.4(SMAD3):c.1A>C (p.Met1Leu)	LOC130057352, SMAD3 (M1L)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 506315	NM_005902.4(SMAD3):c.-18C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 477574	NM_005902.4(SMAD3):c.34G>T (p.Val12Leu)	LOC130057352, SMAD3 (V12L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 451689	NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter)	LOC130057352, SMAD3 (S2*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 316859	NM_005902.4(SMAD3):c.-100C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 316858	NM_005902.4(SMAD3):c.-115C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 283793	NM_005902.4(SMAD3):c.-1C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 263814	NM_005902.4(SMAD3):c.9C>T (p.Ser3=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Aneurysm-osteoarthritis syndrome +2 more	GLikely benign
Select item 213778	NM_005902.4(SMAD3):c.17C>T (p.Pro6Leu)	LOC130057352, SMAD3 (P6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139216	NM_005902.4(SMAD3):c.-15G>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 139215	NM_005902.4(SMAD3):c.-23C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome +2 more	GBenign
Select item 139214	NM_005902.4(SMAD3):c.-28C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 52