ClinVar for MedGen (Select 68676) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224674	NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]	FKRP (L276I +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +20 more	GPathogenic/Likely pathogenic