SMAD1[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
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 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 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 60478	NM_005900.3(SMAD1):c.8T>C (p.Val3Ala)	SMAD1, SMAD1-AS1 (V3A)	Single nucleotide variant (non-coding transcript variant +1 more)	Variant of unknown significance +1 more	GUncertain significance
Select item 2546356	NM_005900.3(SMAD1):c.182C>T (p.Pro61Leu)	SMAD1, SMAD1-AS1 (P61L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2302070	NM_005900.3(SMAD1):c.303T>A (p.His101Gln)	SMAD1, SMAD1-AS1 (H101Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2301662	NM_005900.3(SMAD1):c.323G>A (p.Cys108Tyr)	SMAD1, SMAD1-AS1 (C108Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 2377912	NM_005900.3(SMAD1):c.548C>T (p.Pro183Leu)	SMAD1 (P183L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460692	NM_005900.3(SMAD1):c.634C>T (p.Pro212Ser)	SMAD1 (P212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166232	NM_005900.3(SMAD1):c.671C>T (p.Pro224Leu)	SMAD1 (P224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320621	NM_005900.3(SMAD1):c.673C>T (p.Pro225Ser)	SMAD1 (P225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242170	NM_005900.3(SMAD1):c.752T>C (p.Leu251Pro)	SMAD1 (L251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249634	NM_005900.3(SMAD1):c.775+116T>C	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3166233	NM_005900.3(SMAD1):c.809A>C (p.His270Pro)	SMAD1 (H270P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282393	NM_005900.3(SMAD1):c.998-94C>T	SMAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2551182	NM_005900.3(SMAD1):c.1016T>G (p.Val339Gly)	SMAD1 (V339G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266653	NM_005900.3(SMAD1):c.1108A>G (p.Thr370Ala)	SMAD1 (T370A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030375	NM_005900.3(SMAD1):c.1203G>A (p.Glu401=)	SMAD1	Single nucleotide variant (synonymous variant)	SMAD1-related disorder	GLikely benign
Select item 3166230	NM_005900.3(SMAD1):c.1226T>C (p.Met409Thr)	SMAD1 (M409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560826	NM_005900.3(SMAD1):c.1234A>G (p.Ile412Val)	SMAD1 (I412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166231	NM_005900.3(SMAD1):c.1240A>G (p.Met414Val)	SMAD1 (M414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062794	GRCh37/hg19 4q31.21-31.22(chr4:145985709-147160169)x3	ABCE1, ANAPC10 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062793	GRCh37/hg19 4q31.21-31.22(chr4:145985742-147160169)x3	ABCE1, ANAPC10 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	ARHGAP10, C4orf51 +11 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
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: 66