ARID3A[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	STK11, TCF3 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	LOC130062964, LOC130062965 +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	LOC130062905, LOC130062906 +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 145089	GRCh38/hg38 19p13.3(chr19:839492-995558)x1	ARID3A, CFD +27 more	Copy number loss	See cases	GPathogenic
Select item 3129440	NM_005224.3(ARID3A):c.51G>A (p.Ala17=)	ARID3A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2344641	NM_005224.3(ARID3A):c.109G>A (p.Gly37Ser)	ARID3A (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373697	NM_005224.3(ARID3A):c.112C>T (p.Arg38Trp)	ARID3A (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508962	NM_005224.3(ARID3A):c.119G>A (p.Arg40Gln)	ARID3A (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210456	NM_005224.3(ARID3A):c.127C>T (p.Pro43Ser)	ARID3A (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322081	NM_005224.3(ARID3A):c.130G>A (p.Asp44Asn)	ARID3A (D44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470384	NM_005224.3(ARID3A):c.158G>A (p.Arg53Gln)	ARID3A (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129433	NM_005224.3(ARID3A):c.166C>T (p.Arg56Trp)	ARID3A (R56W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129435	NM_005224.3(ARID3A):c.235G>T (p.Gly79Cys)	ARID3A (G79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783810	NM_005224.3(ARID3A):c.235G>A (p.Gly79Ser)	ARID3A (G79S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2487559	NM_005224.3(ARID3A):c.256C>T (p.Pro86Ser)	ARID3A (P86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397544	NM_005224.3(ARID3A):c.263C>T (p.Ser88Leu)	ARID3A (S88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129436	NM_005224.3(ARID3A):c.277G>A (p.Ala93Thr)	ARID3A (A93T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129437	NM_005224.3(ARID3A):c.284G>A (p.Arg95Gln)	ARID3A (R95Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398444	NM_005224.3(ARID3A):c.296C>T (p.Pro99Leu)	ARID3A (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396501	NM_005224.3(ARID3A):c.361G>A (p.Glu121Lys)	ARID3A (E121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129438	NM_005224.3(ARID3A):c.382G>A (p.Glu128Lys)	ARID3A (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366421	NM_005224.3(ARID3A):c.409G>A (p.Gly137Arg)	ARID3A (G137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129439	NM_005224.3(ARID3A):c.463G>A (p.Asp155Asn)	ARID3A (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598150	NM_005224.3(ARID3A):c.550C>T (p.Arg184Cys)	ARID3A (R184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533603	NM_005224.3(ARID3A):c.577G>T (p.Gly193Trp)	ARID3A (G193W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257133	NM_005224.3(ARID3A):c.589C>T (p.Arg197Trp)	ARID3A (R197W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129441	NM_005224.3(ARID3A):c.590G>A (p.Arg197Gln)	ARID3A (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487277	NM_005224.3(ARID3A):c.613C>T (p.Pro205Ser)	ARID3A (P205S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129442	NM_005224.3(ARID3A):c.616G>A (p.Gly206Arg)	ARID3A (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505236	NM_005224.3(ARID3A):c.676G>T (p.Glu226Ter)	ARID3A (E226*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 2493444	NM_005224.3(ARID3A):c.725A>G (p.Lys242Arg)	ARID3A (K242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129443	NM_005224.3(ARID3A):c.870C>G (p.Asn290Lys)	ARID3A (N290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248451	NM_005224.3(ARID3A):c.950+3G>A	ARID3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3129427	NM_005224.3(ARID3A):c.1171A>C (p.Ile391Leu)	ARID3A (I391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129428	NM_005224.3(ARID3A):c.1235G>A (p.Arg412His)	ARID3A (R412H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517609	NM_005224.3(ARID3A):c.1253C>T (p.Ala418Val)	ARID3A (A418V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785596	NM_005224.3(ARID3A):c.1341A>G (p.Glu447=)	ARID3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2369367	NM_005224.3(ARID3A):c.1376C>T (p.Pro459Leu)	ARID3A (P459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129429	NM_005224.3(ARID3A):c.1414C>T (p.Arg472Trp)	ARID3A (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273397	NM_005224.3(ARID3A):c.1415G>A (p.Arg472Gln)	ARID3A (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260886	NM_005224.3(ARID3A):c.1436A>G (p.Gln479Arg)	ARID3A (Q479R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788008	NM_005224.3(ARID3A):c.1458G>A (p.Ala486=)	ARID3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3129430	NM_005224.3(ARID3A):c.1501G>A (p.Glu501Lys)	ARID3A (E501K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210934	NM_005224.3(ARID3A):c.1532C>T (p.Thr511Met)	ARID3A (T511M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260588	NM_005224.3(ARID3A):c.1541A>G (p.Asn514Ser)	ARID3A (N514S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784382	NM_005224.3(ARID3A):c.1566G>A (p.Ser522=)	ARID3A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2265341	NM_005224.3(ARID3A):c.1567G>A (p.Val523Met)	ARID3A (V523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129431	NM_005224.3(ARID3A):c.1625C>T (p.Thr542Met)	ARID3A (T542M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129432	NM_005224.3(ARID3A):c.1652G>A (p.Gly551Asp)	ARID3A (G551D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727639	NM_005224.3(ARID3A):c.1653C>T (p.Gly551=)	ARID3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 833462	NC_000019.9:g.(?_852319)_(1226656_?)del	ARHGAP45, ABCA7 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832758	NC_000019.9:g.(?_852326)_(1226646_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	AZU1, CFD +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 584311	NC_000019.9:g.(?_852323)_(1222011_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 584004	NC_000019.9:g.(?_852323)_(1226652_?)del	TMEM259, WDR18 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 583605	NC_000019.9:g.(?_852319)_(1226656_?)dup	ABCA7, ARHGAP45 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 458009	NC_000019.9:g.(?_852323)_(1207208_?)dup	TMEM259, WDR18 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 219015	GRCh37/hg19 19p13.3(chr19:823554-1206859)x3	POLR2E, PRTN3 +16 more	Copy number gain	See cases	GUncertain significance

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Items: 86