"GeneDx"[submitter] AND "BCO1"[gene] - ClinVar

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Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 1267670	NM_017429.3(BCO1):c.64+51T>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289541	NM_017429.3(BCO1):c.64+206G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250161	NM_017429.3(BCO1):c.105T>C (p.Asn35=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1275712	NM_017429.3(BCO1):c.193+170C>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248615	NM_017429.3(BCO1):c.193+226A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223010	NM_017429.3(BCO1):c.193+272dup	BCO1	Duplication (intron variant)	not provided	GBenign
Select item 1246078	NM_017429.3(BCO1):c.193+267_193+272del	BCO1	Deletion (intron variant)	not provided	GBenign
Select item 1222394	NM_017429.3(BCO1):c.193+265_193+272del	BCO1	Deletion (intron variant)	not provided	GBenign
Select item 1257454	NM_017429.3(BCO1):c.193+274T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231797	NM_017429.3(BCO1):c.194-238G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230206	NM_017429.3(BCO1):c.194-219A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287583	NM_017429.3(BCO1):c.194-74A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244506	NM_017429.3(BCO1):c.323+259G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230730	NM_017429.3(BCO1):c.363C>A (p.Thr121=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1265199	NM_017429.3(BCO1):c.471+14T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272760	NM_017429.3(BCO1):c.472-212A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237097	NM_017429.3(BCO1):c.619+145C>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225223	NM_017429.3(BCO1):c.620-53G>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232968	NM_017429.3(BCO1):c.678A>G (p.Pro226=)	BCO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1293223	NM_017429.3(BCO1):c.801A>T (p.Arg267Ser)	BCO1 (R267S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1244108	NM_017429.3(BCO1):c.843+273A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233865	NM_017429.3(BCO1):c.844-5T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296746	NM_017429.3(BCO1):c.1101+48C>T	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294500	NM_017429.3(BCO1):c.1102-81T>C	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253021	NM_017429.3(BCO1):c.1136C>T (p.Ala379Val)	BCO1 (A379V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1278740	NM_017429.3(BCO1):c.1208-263A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268161	NM_017429.3(BCO1):c.1302+199G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294458	NM_017429.3(BCO1):c.1303-70A>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242403	NM_017429.3(BCO1):c.1303-13G>A	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224774	NM_017429.3(BCO1):c.1414+287T>G	BCO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 34