"GeneDx"[submitter] AND "LOC107303339"[gene] - ClinVar

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Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	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 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
Select item 1291094	NM_018462.5(BRK1):c.119-678A>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 1175640	NM_018462.5(BRK1):c.119-241A>G	BRK1, LOC107303339	Single nucleotide variant (intron 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 1292431	NM_018462.5(BRK1):c.119-46G>C	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 1238385	NM_018462.5(BRK1):c.201+279A>G	BRK1, LOC107303339	Single nucleotide variant (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 1261523	NM_018462.5(BRK1):c.*668T>C	BRK1, LOC107303339	Single nucleotide variant (3 prime UTR 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 1292433	NM_018462.5(BRK1):c.*823A>G	BRK1, LOC107303339	Single nucleotide variant (3 prime UTR 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 1272033	NC_000003.12:g.10127208T>G	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1272698	NC_000003.12:g.10127221C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1291096	NC_000003.12:g.10127281G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1244655	NC_000003.12:g.10127283G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1282321	NC_000003.12:g.10127327C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1242721	NC_000003.12:g.10127430G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1264375	NC_000003.12:g.10127819C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1255015	NC_000003.12:g.10127872A>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1292438	NC_000003.12:g.10128041G>A	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1262185	NC_000003.12:g.10128062G>C	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1249922	NC_000003.12:g.10128135G>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign
Select item 1257404	NC_000003.12:g.10128345C>T	BRK1, LOC107303339	Single nucleotide variant	not provided	GBenign

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Items: 72