SMAD1-AS1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +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 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)	Inborn genetic diseases	GUncertain significance
Select item 2302070	NM_005900.3(SMAD1):c.303T>A (p.His101Gln)	SMAD1-AS1, SMAD1 (H101Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301662	NM_005900.3(SMAD1):c.323G>A (p.Cys108Tyr)	SMAD1-AS1, SMAD1 (C108Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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

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Items: 23