"GeneDx"[submitter] AND "SMAD2"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177743	NM_005901.6(SMAD2):c.*93A>G	SMAD2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1308032	NM_005901.6(SMAD2):c.1385G>A (p.Arg462His)	SMAD2 (R432H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314651	NM_005901.6(SMAD2):c.1378T>A (p.Ser460Thr)	SMAD2 (S430T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2571929	NM_005901.6(SMAD2):c.1376C>T (p.Pro459Leu)	SMAD2 (P429L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698345	NM_005901.6(SMAD2):c.1322A>C (p.His441Pro)	SMAD2 (H411P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505610	NM_005901.6(SMAD2):c.1297A>G (p.Ser433Gly)	SMAD2 (S403G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695553	NM_005901.6(SMAD2):c.1294A>C (p.Thr432Pro)	SMAD2 (T402P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306114	NM_005901.6(SMAD2):c.1281-11C>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1221544	NM_005901.6(SMAD2):c.1281-136G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212690	NM_005901.6(SMAD2):c.1281-248A>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181129	NM_005901.6(SMAD2):c.1281-266C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197368	NM_005901.6(SMAD2):c.1281-317G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220775	NM_005901.6(SMAD2):c.1281-318C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224065	NM_005901.6(SMAD2):c.1280+202G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281287	NM_005901.6(SMAD2):c.1280+25A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678810	NM_005901.6(SMAD2):c.1217A>G (p.Tyr406Cys)	SMAD2 (Y376C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1704672	NM_005901.6(SMAD2):c.1174G>A (p.Ala392Thr)	SMAD2 (A362T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327533	NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg)	SMAD2 (Q388R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369808	NM_005901.6(SMAD2):c.1063A>G (p.Ile355Val)	SMAD2 (I325V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373691	NM_005901.6(SMAD2):c.1049_1051del (p.Leu350_Ser351delinsArg)	SMAD2	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1192111	NM_005901.6(SMAD2):c.997+88T>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199163	NM_005901.6(SMAD2):c.997+18T>G	SMAD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1202501	NM_005901.6(SMAD2):c.997+5G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 450219	NM_005901.6(SMAD2):c.995T>C (p.Ile332Thr)	SMAD2 (I332T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180990	NM_005901.6(SMAD2):c.972G>A (p.Thr324=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1303835	NM_005901.6(SMAD2):c.941G>A (p.Gly314Asp)	SMAD2 (G284D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313747	NM_005901.6(SMAD2):c.908C>T (p.Thr303Ile)	SMAD2 (T273I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787466	NM_005901.6(SMAD2):c.828G>A (p.Ser276=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 3368534	NM_005901.6(SMAD2):c.812C>T (p.Pro271Leu)	SMAD2 (P241L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204483	NM_005901.6(SMAD2):c.789A>G (p.Leu263=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1202392	NM_005901.6(SMAD2):c.785-9C>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179226	NM_005901.6(SMAD2):c.785-87T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207796	NM_005901.6(SMAD2):c.785-94G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203467	NM_005901.6(SMAD2):c.785-277A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1307658	NM_005901.6(SMAD2):c.757A>G (p.Thr253Ala)	SMAD2 (T223A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194995	NM_005901.6(SMAD2):c.747A>G (p.Leu249=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1303595	NM_005901.6(SMAD2):c.734C>G (p.Ser245Cys)	SMAD2 (S215C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274673	NM_005901.6(SMAD2):c.731-184C>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200419	NM_005901.6(SMAD2):c.730+184T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218856	NM_005901.6(SMAD2):c.730+107A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215322	NM_005901.6(SMAD2):c.730+74A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197566	NM_005901.6(SMAD2):c.730+70A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288488	NM_005901.6(SMAD2):c.730+3dup	SMAD2	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1186342	NM_005901.6(SMAD2):c.730+11T>A	SMAD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1309390	NM_005901.6(SMAD2):c.727A>G (p.Thr243Ala)	SMAD2 (T213A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210847	NM_005901.6(SMAD2):c.660G>T (p.Thr220=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1239940	NM_005901.6(SMAD2):c.656-235A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280098	NM_005901.6(SMAD2):c.655+93T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3339505	NM_005901.6(SMAD2):c.649A>G (p.Ile217Val)	SMAD2 (I187V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806762	NM_005901.6(SMAD2):c.619C>G (p.Pro207Ala)	SMAD2 (P177A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302365	NM_005901.6(SMAD2):c.594C>T (p.His198=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1185766	NM_005901.6(SMAD2):c.587A>G (p.Tyr196Cys)	SMAD2 (Y166C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196030	NM_005901.6(SMAD2):c.579G>A (p.Leu193=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 818019	NM_005901.6(SMAD2):c.549_550insCC (p.Thr184fs)	SMAD2 (T184fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1187876	NM_005901.6(SMAD2):c.544C>T (p.Arg182Ter)	SMAD2 (R152* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1213374	NM_005901.6(SMAD2):c.521-16del	SMAD2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1244651	NM_005901.6(SMAD2):c.521-91A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231489	NM_005901.6(SMAD2):c.521-283C>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244531	NM_005901.6(SMAD2):c.520+159T>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208386	NM_005901.6(SMAD2):c.520+5G>A	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1321566	NM_005901.6(SMAD2):c.489C>T (p.Asn163=)	SMAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 419441	NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)	SMAD2 (E159* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1254194	NM_005901.6(SMAD2):c.448G>A (p.Glu150Lys)	SMAD2 (E120K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500580	NM_005901.6(SMAD2):c.447C>G (p.Cys149Trp)	SMAD2 (C119W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517050	NM_005901.6(SMAD2):c.389G>A (p.Arg130Gln)	SMAD2 (R100Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342463	NM_005901.6(SMAD2):c.381A>G (p.Ile127Met)	SMAD2 (I127M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507171	NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)	SMAD2 (R120* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1806591	NM_005901.6(SMAD2):c.341G>A (p.Arg114His)	SMAD2 (R114H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247806	NM_005901.6(SMAD2):c.327-56dup	SMAD2	Duplication (intron variant)	not provided	GBenign
Select item 1274947	NM_005901.6(SMAD2):c.327-39del	SMAD2	Deletion (intron variant)	not provided	GBenign
Select item 1257728	NM_005901.6(SMAD2):c.327-40_327-39del	SMAD2	Deletion (intron variant)	not provided	GBenign
Select item 1208798	NM_005901.6(SMAD2):c.327-69C>T	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191994	NM_005901.6(SMAD2):c.326+215T>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312105	NM_005901.6(SMAD2):c.323C>G (p.Thr108Ser)	SMAD2 (T108S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1201774	NM_005901.6(SMAD2):c.189del (p.Ala64fs)	SMAD2 (A64fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 430050	NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter)	SMAD2 (L58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 489354	NM_005901.6(SMAD2):c.53G>A (p.Trp18Ter)	SMAD2 (W18*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1196017	NM_005901.6(SMAD2):c.27G>A (p.Pro9=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1517216	NM_005901.6(SMAD2):c.23C>T (p.Thr8Met)	SMAD2 (T8M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267306	NM_005901.6(SMAD2):c.-53-147A>G	SMAD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 82