"GeneDx"[submitter] AND "SMAD1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 1707267	NM_005900.3(SMAD1):c.-176G>A	SMAD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1260409	NM_005900.3(SMAD1):c.400+122TG[24]	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1245796	NM_005900.3(SMAD1):c.400+122TG[22]	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1226562	NM_005900.3(SMAD1):c.400+122TG[23]	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1269214	NM_005900.3(SMAD1):c.400+122TG[17]	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1240959	NM_005900.3(SMAD1):c.400+122TG[20]	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1226228	NM_005900.3(SMAD1):c.400+122TG[19]	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1318376	NM_005900.3(SMAD1):c.400+162_400+163insCTGTGT	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1226442	NM_005900.3(SMAD1):c.400+186A>G	SMAD1, SMAD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283491	NM_005900.3(SMAD1):c.658+223A>G	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229336	NM_005900.3(SMAD1):c.658+321C>T	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249634	NM_005900.3(SMAD1):c.775+116T>C	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282393	NM_005900.3(SMAD1):c.998-94C>T	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277253	NM_005900.3(SMAD1):c.1254+68del	SMAD1	Deletion (intron variant)	not provided	GBenign
Select item 1262794	NM_005900.3(SMAD1):c.1254+67_1254+68del	SMAD1	Deletion (intron variant)	not provided	GBenign
Select item 1286496	NM_005900.3(SMAD1):c.1255-278C>G	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227457	NM_005900.3(SMAD1):c.1255-164C>T	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296978	NM_005900.3(SMAD1):c.*160dup	SMAD1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1272163	NM_005900.3(SMAD1):c.*149A>C	SMAD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266154	NM_005900.3(SMAD1):c.*161del	SMAD1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1223970	NM_005900.3(SMAD1):c.*161C>A	SMAD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1269664	NM_005900.3(SMAD1):c.*311A>G	SMAD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253973	GRCh37/hg19 4q31.21-31.22(chr4:146210804-146816268)x1	ZNF827, C4orf51 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 26