SMARCA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC124210615, LOC124210616 +1006 more	Copy number gain	See cases	GPathogenic
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 152906	GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1	LOC126860561, LOC126860562 +217 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC101927823, LOC101927827 +3787 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	ABHD17B, ACER2 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	HSD17B3, HSD17B3-AS1 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	DMRT3, DMRTA1 +3787 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3787 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001787, LOC130001788 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839552, LOC113839553 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130002994, LOC130002995 +3787 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABHD17B, ABITRAM +3787 more	Copy number gain	See cases	GPathogenic
Select item 60416	GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 155570	GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1	AK3, CDC37L1 +125 more	Copy number loss	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001479, LOC130001480 +883 more	Copy number gain	See cases	GPathogenic
Select item 154196	GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1	DMRT1, DMRT2 +96 more	Copy number loss	See cases	GPathogenic
Select item 153821	GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1	AK3, BRD10 +223 more	Copy number loss	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC121740737, LOC121740738 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC126860785, LOC126860786 +3787 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	ACER2, ADAMTSL1 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC100129034, LOC100129316 +3787 more	Copy number gain	See cases	GPathogenic
Select item 1684649	Single allele	LOC130001472, LOC130001473 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 154749	GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3	LOC130001463, LOC130001464 +119 more	Copy number gain	See cases	GPathogenic
Select item 150751	GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	LOC130001521, LOC130001522 +228 more	Copy number loss	See cases	GPathogenic
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	AK3, BRD10 +247 more	Copy number loss	See cases	GPathogenic
Select item 151712	GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1	AK3, BRD10 +183 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	FAM74A1, FAM74A3 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC130001468, LOC130001469 +582 more	Copy number gain	See cases	GPathogenic
Select item 149060	GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1	LOC130001461, LOC130001462 +230 more	Copy number loss	See cases	GPathogenic
Select item 149059	GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1	AK3, CD274 +155 more	Copy number loss	See cases	GPathogenic
Select item 148849	GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1	DMRT1, DMRT2 +75 more	Copy number loss	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001655, LOC130001656 +980 more	Copy number gain	See cases	GPathogenic
Select item 148677	GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1	AK3, BRD10 +215 more	Copy number loss	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	AK3, BRD10 +256 more	Copy number loss	See cases	GPathogenic
Select item 148381	GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1	AK3, BRD10 +224 more	Copy number loss	See cases	GPathogenic
Select item 148307	GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3	AK3, BRD10 +233 more	Copy number gain	See cases	GPathogenic
Select item 148301	GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1	LOC130001475, LOC130001476 +155 more	Copy number loss	See cases	GPathogenic
Select item 148264	GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3	AK3, CDC37L1 +131 more	Copy number gain	See cases	GPathogenic
Select item 148184	GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1	DMRT1, DMRT2 +66 more	Copy number loss	See cases	GPathogenic
Select item 146684	GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	IL33, INSL4 +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001800, LOC130001801 +899 more	Copy number gain	See cases	GPathogenic
Select item 147839	GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	LOC130001519, LOC130001520 +233 more	Copy number loss	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	AK3, BNC2 +290 more	Copy number loss	See cases	GPathogenic
Select item 146254	GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1	AK3, BRD10 +232 more	Copy number loss	See cases	GPathogenic
Select item 146231	GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1	AK3, BRD10 +215 more	Copy number loss	See cases	GPathogenic
Select item 144708	GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1	DMRT1, DMRT2 +82 more	Copy number loss	See cases	GPathogenic
Select item 144441	GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 144391	GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	ADAMTSL1, AK3 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002290, LOC130002291 +3787 more	Copy number gain	See cases	GPathogenic
Select item 144246	GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1	LOC130001542, LOC130001543 +230 more	Copy number loss	See cases	GPathogenic
Select item 60431	GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1	BRD10, AK3 +230 more	Copy number loss	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	LOC126860573, LOC126860574 +539 more	Copy number gain	See cases	GPathogenic
Select item 59837	GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3	DMRT1, DMRT2 +67 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC126860568, LOC126860569 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001534, LOC130001535 +898 more	Copy number gain	See cases	GPathogenic
Select item 57180	GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	LOC105375972, LOC105375976 +255 more	Copy number loss	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 152907	GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 151916	GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1	LOC121740739, LOC121811698 +217 more	Copy number loss	See cases	GPathogenic
Select item 60441	GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 60440	GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1	LOC130001484, LOC130001485 +179 more	Copy number loss	See cases	GPathogenic
Select item 59060	GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	AK3, BRD10 +252 more	Copy number loss	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC126860575, LOC126860576 +280 more	Copy number loss	See cases	GPathogenic
Select item 154621	GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1	AK3, BRD10 +213 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	ADAMTSL1, AK3 +295 more	Copy number loss	See cases	GPathogenic
Select item 146111	GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1	AK3, BRD10 +222 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	LOC130001523, LOC130001524 +894 more	Copy number gain	See cases	GPathogenic
Select item 59065	GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1	LOC126860559, LOC126860560 +210 more	Copy number loss	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 59062	GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1	LOC130001500, LOC130001501 +172 more	Copy number loss	See cases	GPathogenic
Select item 57352	GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1	DMRT1, LOC121740737 +70 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	LOC130001482, LOC130001483 +461 more	Copy number gain	See cases	GPathogenic
Select item 154563	GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1	DMRT1, DMRT2 +61 more	Copy number loss	See cases	GPathogenic
Select item 59066	GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1	DMRT1, DMRT2 +73 more	Copy number loss	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	KCNV2, KDM4C +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57235	GRCh38/hg38 9p24.3(chr9:839152-2094920)x3	DMRT1, DMRT2 +29 more	Copy number gain	See cases	GUncertain significance
Select item 57027	GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3	AK3, BRD10 +204 more	Copy number gain	See cases	GPathogenic
Select item 152115	GRCh38/hg38 9p24.3-24.2(chr9:1845513-3022547)x3	KCNV2, LOC110121197 +31 more	Copy number gain	See cases	GUncertain significance
Select item 913279	NM_003070.5(SMARCA2):c.-56G>A	SMARCA2, LOC130001461	Single nucleotide variant (5 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2582642	NM_003070.5(SMARCA2):c.-37+1G>T	SMARCA2	Single nucleotide variant (splice donor variant)	Nicolaides-Baraitser syndrome +1 more	GUncertain significance
Select item 1231248	NM_003070.5(SMARCA2):c.-36-230T>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191112	NM_003070.5(SMARCA2):c.-36-205T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251909	NM_003070.5(SMARCA2):c.-36-45A>G	SMARCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 126341	NM_003070.5(SMARCA2):c.-5G>A	SMARCA2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 2240617	NM_003070.5(SMARCA2):c.8C>T (p.Thr3Met)	SMARCA2 (T3M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2184697	NM_003070.5(SMARCA2):c.9G>A (p.Thr3=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248528	NM_003070.5(SMARCA2):c.26C>T (p.Ala9Val)	SMARCA2 (A9V)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely benign
Select item 2708966	NM_003070.5(SMARCA2):c.27G>A (p.Ala9=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174807	NM_003070.5(SMARCA2):c.31C>T (p.Pro11Ser)	SMARCA2 (P11S)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign/Likely benign
Select item 522971	NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr)	SMARCA2 (P11T)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 3445944	NM_003070.5(SMARCA2):c.35A>G (p.His12Arg)	SMARCA2 (H12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3646710	NM_003070.5(SMARCA2):c.41G>A (p.Gly14Glu)	SMARCA2 (G14E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3713437	NM_003070.5(SMARCA2):c.48G>A (p.Ser16=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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