Related gene-specific medical variations for Gene (Select 9126) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069163	NM_005445.4(SMC3):c.1190dup (p.Glu398fs)	SMC3 (E398fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 3068054	NM_005445.4(SMC3):c.1900C>T (p.Arg634Cys)	SMC3 (R634C)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2436146	NM_005445.4(SMC3):c.1692T>A (p.Asp564Glu)	SMC3 (D564E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 2436145	NM_005445.4(SMC3):c.2569A>G (p.Thr857Ala)	SMC3 (T857A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 1696491	NM_005445.4(SMC3):c.1580A>G (p.His527Arg)	SMC3 (H527R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 1679706	NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln)	SMC3 (R928Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 1676567	NM_005445.4(SMC3):c.1343dup (p.Glu449fs)	SMC3 (E449fs)	Duplication	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 931594	NM_005445.4(SMC3):c.7A>G (p.Ile3Val)	SMC3 (I3V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 424964	NM_005445.4(SMC3):c.385_393del (p.Gly129_Ser131del)	SMC3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 259766	NM_005445.4(SMC3):c.1410-30_1410-25del	SMC3	Deletion (intron variant)	not specified	GLikely benign