BRK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 665653	NC_000003.12:g.(?_10052377)_(10149975_?)del	BRK1, FANCD2 +7 more	Deletion	Chuvash polycythemia +1 more	GPathogenic
Select item 654670	NC_000003.11:g.(?_10094061)_(10191659_?)dup	BRK1, FANCD2 +7 more	Duplication	Chuvash polycythemia +1 more	GUncertain significance
Select item 584124	NC_000003.11:g.(?_10106403)_(10191659_?)dup	FANCD2, FANCD2OS +7 more	Duplication	Chuvash polycythemia +1 more	GUncertain significance
Select item 526503	NC_000003.12:g.(?_10064723)_(10146642_?)del	BRK1, FANCD2 +7 more	Deletion	Fanconi anemia	GPathogenic
Select item 456559	NC_000003.12:g.(?_10064723)_(10149971_?)del	LOC107303340, LOC129936148 +7 more	Deletion	Von Hippel-Lindau syndrome +1 more	GPathogenic
Select item 1253173	NC_000003.12:g.10114529AAGG[3]	BRK1	Microsatellite	not provided	GBenign
Select item 1242656	NC_000003.12:g.10114714G>A	BRK1	Single nucleotide variant	not provided	GBenign
Select item 1279464	NC_000003.12:g.10114849A>G	BRK1	Single nucleotide variant	not provided	GBenign
Select item 1182340	NC_000003.12:g.10115099G>C	BRK1	Single nucleotide variant	not provided	GBenign
Select item 1243949	NC_000003.12:g.10115521G>C	BRK1, LOC129936148	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 1178768	NM_018462.5(BRK1):c.-18C>T	BRK1, LOC129936148	Single nucleotide variant (5 prime UTR 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 1292494	NM_018462.5(BRK1):c.118+600TA[3]	BRK1	Microsatellite (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 1249351	NM_018462.5(BRK1):c.118+890A>G	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227437	NM_018462.5(BRK1):c.118+1594dup	BRK1	Duplication (intron variant)	not provided	GBenign
Select item 1178812	NM_018462.5(BRK1):c.118+1594del	BRK1	Deletion (intron 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 1227069	NM_018462.5(BRK1):c.118+2295A>G	BRK1	Single nucleotide variant (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 1238958	NM_018462.5(BRK1):c.118+2433C>A	BRK1	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 1273697	NM_018462.5(BRK1):c.118+2756T>C	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227105	NM_018462.5(BRK1):c.118+3183TTTG[4]	BRK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1278998	NM_018462.5(BRK1):c.118+3342dup	BRK1	Duplication (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 1248233	NM_018462.5(BRK1):c.118+3324C>A	BRK1	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 1241472	NM_018462.5(BRK1):c.118+3612C>G	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234233	NM_018462.5(BRK1):c.118+3902G>T	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174440	NM_018462.5(BRK1):c.118+4015C>A	BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222899	NM_018462.5(BRK1):c.118+4228dup	BRK1, LOC107303339	Duplication (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 1233242	NM_018462.5(BRK1):c.119-4437G>T	BRK1, LOC107303339	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 1232272	NM_018462.5(BRK1):c.119-3878_119-3877dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1226883	NM_018462.5(BRK1):c.119-3877dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1236131	NM_018462.5(BRK1):c.119-3872C>T	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231603	NM_018462.5(BRK1):c.119-3651C>T	BRK1, LOC107303339	Single nucleotide variant (intron 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 1292394	NM_018462.5(BRK1):c.119-3577T>C	LOC107303339, BRK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271871	NM_018462.5(BRK1):c.119-3531dup	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 1250289	NM_018462.5(BRK1):c.119-3516T>G	BRK1, LOC107303339	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 1235024	NM_018462.5(BRK1):c.119-3077C>A	BRK1, LOC107303339	Single nucleotide variant (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 1244942	NM_018462.5(BRK1):c.119-3002G>A	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 1263229	NM_018462.5(BRK1):c.119-2588T>G	BRK1, LOC107303339	Single nucleotide variant (intron 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 1227375	NM_018462.5(BRK1):c.119-2178_119-2173dup	BRK1, LOC107303339	Duplication (intron 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 1244649	NM_018462.5(BRK1):c.119-2046G>A	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262138	NM_018462.5(BRK1):c.119-2019del	BRK1, LOC107303339	Deletion (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 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 1225886	NM_018462.5(BRK1):c.119-1988G>C	BRK1, LOC107303339	Single nucleotide variant (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 1231180	NM_018462.5(BRK1):c.119-1978A>C	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 1238994	NM_018462.5(BRK1):c.119-1970_119-1969insTG	BRK1, LOC107303339	Insertion (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 1276345	NM_018462.5(BRK1):c.119-1875_119-1873dup	BRK1, LOC107303339	Duplication (intron variant)	not provided	GBenign
Select item 1253603	NM_018462.5(BRK1):c.119-1873dup	BRK1, LOC107303339	Duplication (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 1275497	NM_018462.5(BRK1):c.119-1612C>T	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 1287911	NM_018462.5(BRK1):c.119-1527_119-1524del	BRK1, LOC107303339	Microsatellite (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 1248395	NM_018462.5(BRK1):c.119-1401C>T	BRK1, LOC107303339	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 1252934	NM_018462.5(BRK1):c.119-1299dup	BRK1, LOC107303339	Duplication (intron 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 1291159	NM_018462.5(BRK1):c.119-891T>C	BRK1, LOC107303339	Single nucleotide variant (intron variant)	not provided	GBenign

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