ClinVar for MedGen (Select 167093) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975655	NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)	ATRX (N1656D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 11735	NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)	ATRX (R246C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic