Related gene-specific medical variations for Gene (Select 104326058) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1318376	NM_005900.3(SMAD1):c.400+162_400+163insCTGTGT	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269214	NM_005900.3(SMAD1):c.400+122TG[17]	SMAD1, SMAD1-AS1	Microsatellite (intron variant)	not provided	GBenign
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 1240959	NM_005900.3(SMAD1):c.400+122TG[20]	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 1226442	NM_005900.3(SMAD1):c.400+186A>G	SMAD1, SMAD1-AS1	Single nucleotide variant (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 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