"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500289	NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)	ARID1A (Y1096C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 1172645	NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)	ARID1A (S1350fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 689719	NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)	ARID1A (P1568S)	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 559859	NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)	ARID1A (P1621fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 3220888	NM_006015.6(ARID1A):c.5229_5230dup (p.Leu1744fs)	ARID1A (L1744fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 14	GPathogenic
Select item 2582256	NM_006015.6(ARID1A):c.5566C>T (p.Gln1856Ter)	ARID1A (Q1639* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 14	GPathogenic

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