"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ARID1B"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1245708	NM_001374828.1(ARID1B):c.535C>A (p.His179Asn)	ARID1B, LOC115308161 (H179N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 210284	NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)	ARID1B, LOC115308161	Microsatellite (non-coding transcript variant +1 more)	Coffin-Siris syndrome 1 +3 more	GBenign/Likely benign
Select item 589060	NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del)	ARID1B, LOC115308161 (Q214del)	Microsatellite (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 434371	NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del)	ARID1B	Microsatellite (inframe_deletion)	ARID1B-related disorder +4 more	GBenign/Likely benign
Select item 452366	NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)	ARID1B (G327A +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 589531	NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr)	ARID1B (A491T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 520728	NM_001374828.1(ARID1B):c.1987-29738G>T	ARID1B (E588* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 434359	NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=)	ARID1B	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 1 +2 more	GBenign/Likely benign
Select item 31216	NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)	ARID1B (R1075* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 31210	NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter)	ARID1B (R1102* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +2 more	GPathogenic
Select item 434360	NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=)	ARID1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 588802	NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala)	ARID1B (P1414A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 589413	NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=)	ARID1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 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)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 813557	NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln)	ARID1B (R1092Q +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 210303	NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser)	ARID1B (P1894S +4 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +1 more	GUncertain significance