"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 589481	NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del)	ARID1B, LOC115308161	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 210310	NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)	ARID1B (G246S +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +3 more	GBenign
Select item 434353	NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=)	ARID1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 588072	NM_001374828.1(ARID1B):c.1265_1270dup (p.Val422_Ala423dup)	ARID1B	Duplication (inframe_insertion)	ARID1B-related condition +3 more	GLikely benign
Select item 210266	NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)	ARID1B (G440del)	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 126312	NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val)	ARID1B (M429V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +4 more	GBenign/Likely benign
Select item 210280	NM_001374828.1(ARID1B):c.3235+6C>T	ARID1B	Single nucleotide variant (intron variant)	ARID1B-related condition +3 more	GBenign/Likely benign
Select item 126335	NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)	ARID1B (E1736A +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 488678	NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)	ARID1B (R1926* +5 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +3 more	GPathogenic/Likely pathogenic