ClinVar for MedGen (Select 1052732) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340064	NM_022340.4(RBSN):c.538C>G (p.Arg180Gly)	RBSN (R180G)	Single nucleotide variant (missense variant)	KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME	GPathogenic
Select item 3340063	NM_022340.4(RBSN):c.547G>A (p.Gly183Arg)	RBSN (G183R)	Single nucleotide variant (missense variant)	KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME	GPathogenic