ClinVar for Gene (Select 55845) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246963	NC_000003.11:g.(?_9470623)_(11078652_?)dup	BRK1, BRPF1 +29 more	Duplication	not provided	GUncertain significance
Select item 3246936	NC_000003.11:g.(?_9703931)_(11078652_?)del	ARPC4, ARPC4-TTLL3 +27 more	Deletion	Myoclonic-atonic epilepsy	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062688	GRCh37/hg19 3p25.3(chr3:10167355-10209588)x1	BRK1, IRAK2 +1 more	Copy number loss	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685907	GRCh37/hg19 3p25.3(chr3:10098118-10311939)x3	BRK1, FANCD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2672981	GRCh37/hg19 3p25.3(chr3:10070342-10312699)x4	TATDN2, BRK1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2580292	GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1	ATG7, ATP2B2 +16 more	Copy number loss	See cases	GPathogenic
Select item 2424613	NC_000003.11:g.(?_10094051)_(11078652_?)del	ATP2B2, BRK1 +10 more	Deletion	Myoclonic-astatic epilepsy	GPathogenic
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807789	GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	BRK1, CIDEC +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807689	GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1	ATG7, ATP2B2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1456081	NC_000003.11:g.(?_10070342)_(10191719_?)del	FANCD2, FANCD2OS +2 more	Deletion	Fanconi anemia	GPathogenic
Select item 1412574	NC_000003.11:g.(?_9908818)_(10191649_?)dup	BRK1, CIDEC +9 more	Duplication	Candidiasis, familial, 9 +1 more	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance
Select item 1292494	NM_018462.5(BRK1):c.118+600TA[3]	BRK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1292482	NM_018462.5(BRK1):c.119-3030T>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292438	NC_000003.12:g.10128041G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1292433	NM_018462.5(BRK1):c.*823A>G	BRK1, LOC107303339	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1292431	NM_018462.5(BRK1):c.119-46G>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292414	NM_018462.5(BRK1):c.119-465G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292413	NM_018462.5(BRK1):c.119-1599G>T	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292412	NM_018462.5(BRK1):c.119-1745A>G	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292411	NM_018462.5(BRK1):c.119-1968T>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292410	NM_018462.5(BRK1):c.119-1972_119-1971del	BRK1, LOC107303339	Microsatellite (intron variant)	not provided	GBenign
Select item 1292409	NM_018462.5(BRK1):c.119-1985A>G	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292394	NM_018462.5(BRK1):c.119-3577T>C	LOC107303339, BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291159	NM_018462.5(BRK1):c.119-891T>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291099	NM_018462.5(BRK1):c.118+3388A>G	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291096	NC_000003.12:g.10127281G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1291095	NM_018462.5(BRK1):c.119-198G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291094	NM_018462.5(BRK1):c.119-678A>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291092	NM_018462.5(BRK1):c.119-2009A>G	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289375	NM_018462.5(BRK1):c.119-2963G>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287911	NM_018462.5(BRK1):c.119-1527_119-1524del	BRK1, LOC107303339	Microsatellite (intron variant)	not provided	GBenign
Select item 1282321	NC_000003.12:g.10127327C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1281544	NM_018462.5(BRK1):c.118+2293G>A	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280717	NM_018462.5(BRK1):c.*885A>C	BRK1, LOC107303339	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280431	NM_018462.5(BRK1):c.119-3585C>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279464	NC_000003.12:g.10114849A>G	BRK1	Single nucleotide variant	not provided	GBenign
Select item 1278998	NM_018462.5(BRK1):c.118+3342dup	BRK1	Duplication (intron variant)	not provided	GBenign
Select item 1277703	NM_018462.5(BRK1):c.118+799C>G	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277063	NM_018462.5(BRK1):c.119-1371C>T	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276345	NM_018462.5(BRK1):c.119-1875_119-1873dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1275497	NM_018462.5(BRK1):c.119-1612C>T	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273697	NM_018462.5(BRK1):c.118+2756T>C	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272698	NC_000003.12:g.10127221C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1272033	NC_000003.12:g.10127208T>G	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1271871	NM_018462.5(BRK1):c.119-3531dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1268880	NM_018462.5(BRK1):c.119-1465T>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268599	NM_018462.5(BRK1):c.118+4393dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1265501	NM_018462.5(BRK1):c.119-3517G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264375	NC_000003.12:g.10127819C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1263802	NM_018462.5(BRK1):c.*806T>C	BRK1, LOC107303339	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1263229	NM_018462.5(BRK1):c.119-2588T>G	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262553	NM_018462.5(BRK1):c.118+2629C>T	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262185	NC_000003.12:g.10128062G>C	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1262138	NM_018462.5(BRK1):c.119-2019del	BRK1, LOC107303339	Deletion (intron variant)	not provided	GBenign
Select item 1261523	NM_018462.5(BRK1):c.*668T>C	BRK1, LOC107303339	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259693	NM_018462.5(BRK1):c.119-2527A>G	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257404	NC_000003.12:g.10128345C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1256670	NM_018462.5(BRK1):c.119-2098C>T	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255015	NC_000003.12:g.10127872A>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1253603	NM_018462.5(BRK1):c.119-1873dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1253173	NC_000003.12:g.10114529AAGG[3]	BRK1	Microsatellite	not provided	GBenign
Select item 1252934	NM_018462.5(BRK1):c.119-1299dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1251563	NM_018462.5(BRK1):c.118+2447_118+2451dup	BRK1	Duplication (intron variant)	not provided	GBenign
Select item 1250650	NM_018462.5(BRK1):c.118+2446_118+2451dup	BRK1	Duplication (intron variant)	not provided	GBenign
Select item 1250289	NM_018462.5(BRK1):c.119-3516T>G	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249922	NC_000003.12:g.10128135G>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1249920	NM_018462.5(BRK1):c.119-904G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249351	NM_018462.5(BRK1):c.118+890A>G	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249200	NM_018462.5(BRK1):c.118+3341_118+3342dup	BRK1	Duplication (intron variant)	not provided	GBenign
Select item 1249004	NM_018462.5(BRK1):c.202-163G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248395	NM_018462.5(BRK1):c.119-1401C>T	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248284	NM_018462.5(BRK1):c.201+184T>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248233	NM_018462.5(BRK1):c.118+3324C>A	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245889	NM_018462.5(BRK1):c.119-4070dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1244942	NM_018462.5(BRK1):c.119-3002G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244655	NC_000003.12:g.10127283G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1244649	NM_018462.5(BRK1):c.119-2046G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243949	NC_000003.12:g.10115521G>C	BRK1, LOC129936148	Single nucleotide variant	not provided	GBenign
Select item 1243942	NM_018462.5(BRK1):c.119-1992T>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242821	NM_018462.5(BRK1):c.119-1991T>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242721	NC_000003.12:g.10127430G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1242656	NC_000003.12:g.10114714G>A	BRK1	Single nucleotide variant	not provided	GBenign
Select item 1242181	NC_000003.12:g.10115653C>A	LOC129936148, BRK1	Single nucleotide variant	not provided	GBenign
Select item 1241472	NM_018462.5(BRK1):c.118+3612C>G	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240926	NM_018462.5(BRK1):c.118+95C>A	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240613	NM_018462.5(BRK1):c.119-3078dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1238994	NM_018462.5(BRK1):c.119-1970_119-1969insTG	BRK1, LOC107303339	Insertion (intron variant)	not provided	GBenign
Select item 1238958	NM_018462.5(BRK1):c.118+2433C>A	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2