C1802395[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375462	NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val)	SMC1A (M1103V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GLikely pathogenic
Select item 437413	NM_006306.4(SMC1A):c.124A>G (p.Met42Val)	SMC1A (M20V +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome	GConflicting classifications of pathogenicity