PBRM1[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 135009	NM_001405607.1(PBRM1):c.4954G>A (p.Asp1652Asn)	PBRM1 (D1530N +48 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 1233642	NM_001405607.1(PBRM1):c.4943-195dup	PBRM1	Duplication (intron variant)	not provided	GBenign
Select item 1283771	NM_001405607.1(PBRM1):c.4942+183GTTTT[3]	PBRM1	Microsatellite (intron variant)	not provided	GBenign
Select item 135008	NM_001405607.1(PBRM1):c.4901C>T (p.Ala1634Val)	PBRM1 (A1512V +50 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 425296	NM_001405607.1(PBRM1):c.4792C>T (p.Pro1598Ser)	PBRM1 (P1476S +50 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1178095	NM_001405607.1(PBRM1):c.4725+48T>C	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294143	NM_001405607.1(PBRM1):c.4654+85C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246864	NM_001405607.1(PBRM1):c.4132-190del	PBRM1	Deletion (intron variant)	not provided	GBenign
Select item 1267698	NM_001405607.1(PBRM1):c.4131+205_4131+226del	PBRM1	Deletion (intron variant)	not provided	GBenign
Select item 218955	NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)	PBRM1 (D1344fs +33 more)	Deletion (frameshift variant +1 more)	Clear cell carcinoma of kidney	GPathogenic
Select item 2497711	NM_001405607.1(PBRM1):c.3999G>T (p.Glu1333Asp)	PBRM1 (E1255D +33 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1244757	NM_001405607.1(PBRM1):c.3921-155C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282950	NM_001405607.1(PBRM1):c.3737-110A>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247646	NM_001405607.1(PBRM1):c.3737-291C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273379	NM_001405607.1(PBRM1):c.3736+142A>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222112	NM_001405607.1(PBRM1):c.3736+44A>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221074	NM_001405607.1(PBRM1):c.3169-10C>A	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292831	NM_001405607.1(PBRM1):c.3169-41C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262624	NM_001405607.1(PBRM1):c.3011-61dup	PBRM1	Duplication (intron variant)	not provided	GBenign
Select item 1255178	NM_001405607.1(PBRM1):c.3011-101G>A	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220693	NM_001405607.1(PBRM1):c.3011-297_3011-296insAAG	PBRM1	Insertion (intron variant)	not provided	GBenign
Select item 1240545	NM_001405607.1(PBRM1):c.3011-313G>A	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135007	NM_001405607.1(PBRM1):c.2861G>T (p.Gly954Val)	PBRM1 (G939V +24 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 1292739	NM_001405607.1(PBRM1):c.2825-194T>A	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274069	NM_001405607.1(PBRM1):c.2824+98A>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237624	NM_001405607.1(PBRM1):c.2824+51G>C	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270303	NM_001405607.1(PBRM1):c.2612+22T>C	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717546	NM_001405607.1(PBRM1):c.2598A>C (p.Ala866=)	PBRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1228987	NM_001405607.1(PBRM1):c.1970-5T>C	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292744	NM_001405607.1(PBRM1):c.1970-162A>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273510	NM_001405607.1(PBRM1):c.1969+277G>C	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232523	NM_001405607.1(PBRM1):c.1864-276T>C	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177320	NM_001405607.1(PBRM1):c.1587-3C>G	PBRM1	Single nucleotide variant (intron variant)	PBRM1-related BAFopathy	GUncertain significance
Select item 133373	NM_001405607.1(PBRM1):c.1544A>G (p.Asn515Ser)	PBRM1 (N536S +3 more)	Single nucleotide variant (intron variant +2 more)	not specified	Gnot provided
Select item 1250555	NM_001405607.1(PBRM1):c.1541+270dup	PBRM1	Duplication (intron variant)	not provided	GBenign
Select item 770703	NM_001405607.1(PBRM1):c.1479C>T (p.Ile493=)	PBRM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 1274905	NM_001405607.1(PBRM1):c.1444-254C>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252946	NM_001405607.1(PBRM1):c.1443+188A>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252874	NM_001405607.1(PBRM1):c.1443+60T>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135006	NM_001405607.1(PBRM1):c.1097A>G (p.Tyr366Cys)	PBRM1 (Y366C +15 more)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 135005	NM_001405607.1(PBRM1):c.998A>G (p.Asn333Ser)	PBRM1 (N333S +15 more)	Single nucleotide variant (missense variant +3 more)	not specified	Gnot provided
Select item 770529	NM_001405607.1(PBRM1):c.996-4G>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272153	NM_001405607.1(PBRM1):c.996-129T>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289959	NM_001405607.1(PBRM1):c.900-119C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266997	NM_001405607.1(PBRM1):c.899+226C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258841	NM_001405607.1(PBRM1):c.899+189C>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287338	NM_001405607.1(PBRM1):c.899+99C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289248	NM_001405607.1(PBRM1):c.813+155C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135011	NM_001405607.1(PBRM1):c.736C>A (p.His246Asn)	PBRM1 (H246N +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	Gnot provided
Select item 1227029	NM_001405607.1(PBRM1):c.646-261T>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286685	NM_001405607.1(PBRM1):c.646-301G>A	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221034	NM_001405607.1(PBRM1):c.645+91C>T	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292498	NM_001405607.1(PBRM1):c.529-28G>C	PBRM1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1225012	NM_001405607.1(PBRM1):c.528+288G>A	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135010	NM_001405607.1(PBRM1):c.409G>T (p.Ala137Ser)	PBRM1 (A137S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	Gnot provided
Select item 1233793	NM_001405607.1(PBRM1):c.385-11C>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232288	NM_001405607.1(PBRM1):c.385-19dup	PBRM1	Duplication (intron variant)	not provided	GBenign
Select item 1231395	NM_001405607.1(PBRM1):c.385-19del	PBRM1	Deletion (intron variant)	not provided	GBenign
Select item 1224019	NM_001405607.1(PBRM1):c.385-60A>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 715872	NM_001405607.1(PBRM1):c.384+8A>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273182	NM_001405607.1(PBRM1):c.237-139dup	PBRM1	Duplication (intron variant)	not provided	GBenign
Select item 1240000	NM_001405607.1(PBRM1):c.237-140_237-139dup	PBRM1	Duplication (intron variant)	not provided	GBenign
Select item 1292833	NM_001405607.1(PBRM1):c.237-139del	PBRM1	Deletion (intron variant)	not provided	GBenign
Select item 1250796	NM_001405607.1(PBRM1):c.236+57A>G	PBRM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287242	NM_001405607.1(PBRM1):c.138+283dup	PBRM1	Duplication (intron variant)	not provided	GBenign
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 76