"ARID1B-related BAFopathy"[Disease/phenotype] AND "Baylor Genetics"[su - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374256	NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)	ARID1B, LOC115308161 +1 more (G6D +1 more)	Single nucleotide variant (missense variant)	ARID1B-related BAFopathy	GLikely pathogenic
Select item 974828	NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)	ARID1B (G544fs)	Deletion (frameshift variant)	ARID1B-related BAFopathy +2 more	GPathogenic/Likely pathogenic
Select item 931777	NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)	ARID1B (A547fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1177346	NM_001374828.1(ARID1B):c.1651C>A (p.Gln551Lys)	ARID1B (Q551K)	Single nucleotide variant (missense variant)	ARID1B-related BAFopathy +1 more	GConflicting classifications of pathogenicity
Select item 520639	NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter)	ARID1B (Q540* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1177347	NM_001374828.1(ARID1B):c.2002G>T (p.Gly668Ter)	ARID1B (G668* +1 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy	GPathogenic
Select item 560948	NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter)	ARID1B (Q610* +2 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +1 more	GPathogenic
Select item 1177348	NM_001374828.1(ARID1B):c.2086dup (p.Gln696fs)	ARID1B (Q696fs +1 more)	Duplication (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 1177349	NM_001374828.1(ARID1B):c.2239dup (p.Ser747fs)	ARID1B (S747fs +1 more)	Duplication (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 372882	NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)	ARID1B (G791S +3 more)	Single nucleotide variant (missense variant)	ARID1B-related BAFopathy +2 more	GLikely pathogenic
Select item 1177350	NM_001374828.1(ARID1B):c.2729dup (p.Tyr910Ter)	ARID1B (Y77* +2 more)	Duplication (nonsense)	ARID1B-related BAFopathy	GPathogenic
Select item 1177357	NM_001374828.1(ARID1B):c.2844del (p.Asn949fs)	ARID1B (N116fs +2 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 1177358	NM_001374828.1(ARID1B):c.2875C>T (p.Gln959Ter)	ARID1B (Q126* +2 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy	GPathogenic
Select item 199160	NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)	ARID1B (R898* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +2 more	GPathogenic
Select item 1033954	NM_001374828.1(ARID1B):c.3126del (p.Met1043fs)	ARID1B (M1043fs +2 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy +1 more	GPathogenic
Select item 689742	NM_001374828.1(ARID1B):c.3230_3235+7del	ARID1B	Deletion (splice donor variant)	ARID1B-related BAFopathy +1 more	GPathogenic
Select item 1177359	NM_001374828.1(ARID1B):c.3505-2A>G	ARID1B	Single nucleotide variant (splice acceptor variant)	ARID1B-related BAFopathy +1 more	GPathogenic
Select item 1177360	NM_001374828.1(ARID1B):c.3527del (p.Thr1176fs)	ARID1B (T1123fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 1177361	NM_001374828.1(ARID1B):c.3585G>A (p.Trp1195Ter)	ARID1B (W1142* +3 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy	GPathogenic
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 560949	NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter)	ARID1B (Y1076* +4 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +1 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 1177362	NM_001374828.1(ARID1B):c.3901dup (p.Leu1301fs)	ARID1B (L1248fs +3 more)	Duplication (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 560950	NM_001374828.1(ARID1B):c.3917del (p.Pro1306fs)	ARID1B (P473fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +1 more	GPathogenic
Select item 689741	NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter)	ARID1B (Q1190* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +1 more	GPathogenic
Select item 694703	NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)	ARID1B (Q1319fs +3 more)	Duplication (frameshift variant)	ARID1B-related BAFopathy +3 more	GPathogenic/Likely pathogenic
Select item 374317	NM_001374828.1(ARID1B):c.4058+1G>C	ARID1B	Single nucleotide variant (splice donor variant)	ARID1B-related BAFopathy	GPathogenic
Select item 560951	NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter)	ARID1B (S1246* +4 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +1 more	GPathogenic
Select item 1177310	NM_001374828.1(ARID1B):c.4444_4445dup (p.Gly1483fs)	ARID1B (G1430fs +3 more)	Duplication (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 210291	NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related condition +5 more	GPathogenic/Likely pathogenic
Select item 1177311	NM_001374828.1(ARID1B):c.4530dup (p.Glu1511fs)	ARID1B (E1458fs +3 more)	Duplication (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 1177312	NM_001374828.1(ARID1B):c.4593_4594del (p.Gly1532fs)	ARID1B (G1479fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 560952	NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter)	ARID1B (W1512* +4 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +1 more	GPathogenic
Select item 800905	NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)	ARID1B (V909fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 503753	NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)	ARID1B (R1624* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +2 more	GPathogenic
Select item 560953	NM_001374828.1(ARID1B):c.5258del (p.Asp1753fs)	ARID1B (D1630fs +4 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy +1 more	GPathogenic
Select item 1177313	NM_001374828.1(ARID1B):c.5285_5294delinsAGA (p.Val1762fs)	ARID1B (V1709fs +3 more)	Indel (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 1177314	NM_001374828.1(ARID1B):c.5633_5636del (p.Thr1878fs)	ARID1B (T1045fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 1177315	NM_001374828.1(ARID1B):c.6058del (p.Gln2020fs)	ARID1B (Q1187fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 1177316	NM_001374828.1(ARID1B):c.6085_6086del (p.Gly2029fs)	ARID1B (G1196fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
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
Select item 1177317	NM_001374828.1(ARID1B):c.6412del (p.Asp2138fs)	ARID1B (D1305fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 996787	NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)	ARID1B (W1304* +3 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +2 more	GPathogenic
Select item 1177331	NM_001374828.1(ARID1B):c.6567del (p.Pro2191fs)	ARID1B (P1358fs +3 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy	GPathogenic
Select item 521375	NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)	ARID1B (Q2108* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +2 more	GPathogenic
Select item 1177332	NM_001374828.1(ARID1B):c.6997G>T (p.Glu2333Ter)	ARID1B (E1500* +3 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy	GPathogenic
Select item 560954	NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs)	ARID1B (L1524fs +4 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +1 more	GPathogenic

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Items: 47