C3281201[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031597	NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu)	ARID1A (P877L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +2 more	GUncertain significance
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 1032090	NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr)	ARID1B, LOC129997525 (A299T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 1030722	NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg)	ARID1B (G372R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028039	NM_001374828.1(ARID1B):c.1334C>T (p.Ser445Phe)	ARID1B (S445F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029776	NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)	ARID1B (G460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 974828	NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)	ARID1B (G544fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 931777	NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)	ARID1B (A547fs)	Deletion (frameshift variant)	ARID1B-related BAFopathy +3 more	GPathogenic
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 1033953	NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly)	ARID1B (S626G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1028041	NM_001374828.1(ARID1B):c.1897T>C (p.Tyr633His)	ARID1B (Y633H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
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 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 391602	NM_001374828.1(ARID1B):c.2582-2A>C	ARID1B	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 383532	NM_001374828.1(ARID1B):c.2909C>T (p.Pro970Leu)	ARID1B (P900L +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +1 more	GUncertain significance
Select item 2441924	NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)	ARID1B (S138* +5 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1033954	NM_001374828.1(ARID1B):c.3126del (p.Met1043fs)	ARID1B (M1043fs +2 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +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 31216	NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)	ARID1B (R1075* +4 more)	Single nucleotide variant (nonsense)	ARID1B-related BAFopathy +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 1033955	NM_001374828.1(ARID1B):c.3752A>G (p.Asn1251Ser)	ARID1B (N1198S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 210291	NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	ARID1B	Single nucleotide variant (synonymous variant)	ARID1B-related BAFopathy +5 more	GPathogenic/Likely pathogenic
Select item 1033956	NM_001374828.1(ARID1B):c.4480-8A>G	ARID1B	Single nucleotide variant (intron variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 1033957	NM_001374828.1(ARID1B):c.4637A>G (p.Tyr1546Cys)	ARID1B (Y1493C +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
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 1029467	NM_001374828.1(ARID1B):c.5026G>T (p.Ala1676Ser)	ARID1B (A1676S +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 588815	NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys)	ARID1B (E1605K +4 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +1 more	GUncertain significance
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)	not provided +3 more	GPathogenic
Select item 560953	NM_001374828.1(ARID1B):c.5258del (p.Asp1753fs)	ARID1B (D1630fs +4 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1 +1 more	GPathogenic
Select item 1030721	NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu)	ARID1B (P1138L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 488678	NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)	ARID1B (R1926* +5 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 1032089	NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr)	ARID1B (A1225T +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2442088	NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)	ARID1B	Deletion (frameshift variant +1 more)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 996787	NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)	ARID1B (W1304* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1 +2 more	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 1029468	NM_001374828.1(ARID1B):c.6784G>A (p.Ala2262Thr)	ARID1B (A1429T +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GUncertain significance
Select item 560954	NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs)	ARID1B (L1524fs +4 more)	Deletion (frameshift variant)	ARID1B-related BAFopathy +1 more	GPathogenic
Select item 625786	GRCh37/hg19 6q25.3(chr6:157133792-157495187)	ARID1B	Copy number gain	Coffin-Siris syndrome 1	GPathogenic
Select item 625549	GRCh37/hg19 6q25.3(chr6:156858484-157854806)	ARID1B, TMEM242 +1 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic

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Items: 47