"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 377123	NM_001374828.1(ARID1B):c.350T>C (p.Leu117Pro)	ARID1B, LOC115308161 (L117P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 210272	NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)	ARID1B, LOC115308161 +1 more (N66S +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 126327	NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 376846	NM_001374828.1(ARID1B):c.612_626del (p.Gln210_Gln214del)	ARID1B, LOC115308161	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 126329	NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 445563	NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)	ARID1B, LOC129997525 (P301A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 210313	NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup)	ARID1B	Microsatellite (inframe_insertion)	Coffin-Siris syndrome 1 +3 more	GBenign/Likely benign
Select item 445786	NM_001374828.1(ARID1B):c.1170CGG[4] (p.Gly399_Gly402del)	ARID1B	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 210314	NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411dup)	ARID1B	Microsatellite (inframe_insertion)	not provided +3 more	GBenign/Likely benign
Select item 235645	NM_001374828.1(ARID1B):c.1268C>T (p.Ala423Val)	ARID1B (A423V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 210265	NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup)	ARID1B	Microsatellite (inframe_insertion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 434377	NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup)	ARID1B	Microsatellite (inframe_insertion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 445357	NM_001374828.1(ARID1B):c.1791+19G>C	ARID1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 445541	NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser)	ARID1B (P807S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 126323	NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser)	ARID1B (G966S +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +2 more	GBenign/Likely benign
Select item 210280	NM_001374828.1(ARID1B):c.3235+6C>T	ARID1B	Single nucleotide variant (intron variant)	Coffin-Siris syndrome 1 +3 more	GBenign/Likely benign
Select item 445817	NM_001374828.1(ARID1B):c.3714+11G>A	ARID1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 445567	NM_001374828.1(ARID1B):c.4603T>G (p.Ser1535Ala)	ARID1B (S1412A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 445294	NM_001374828.1(ARID1B):c.5914C>A (p.Pro1972Thr)	ARID1B (P1139T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280727	NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)	ARID1B (K1192* +3 more)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 235272	NM_001374828.1(ARID1B):c.6641T>C (p.Ile2214Thr)	ARID1B (I1381T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign

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Items: 22