C3281201[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666285	NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)	ARID1B (Y683fs +1 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 666286	NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)	ARID1B (H806fs +1 more)	Deletion (5 prime UTR variant +1 more)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 666554	NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)	ARID1B (Q60fs +2 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 827811	NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)	ARID1B (R1708fs +3 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 689668	NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)	ARID1B (E1756fs +4 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 689678	NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)	ARID1B (M2048T +4 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +1 more	GLikely pathogenic

ClinVar