ClinVar for Gene (Select 83875) - ClinVar

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

Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133537	NM_031938.7(BCO2):c.992C>T (p.Thr331Met)	BCO2 (T258M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133535	NM_031938.7(BCO2):c.758G>A (p.Arg253Gln)	BCO2 (R253Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133534	NM_031938.7(BCO2):c.283G>C (p.Gly95Arg)	BCO2 (G61R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133533	NM_031938.7(BCO2):c.1459C>T (p.Arg487Trp)	BCO2 (R382W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133532	NM_031938.7(BCO2):c.1387A>G (p.Ile463Val)	BCO2 (I358V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133531	NM_031938.7(BCO2):c.1228A>T (p.Arg410Trp)	BCO2 (R305W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065783	NM_031938.7(BCO2):c.10C>T (p.Arg4Ter)	BCO2 (R4*)	Single nucleotide variant (nonsense)	High density lipoprotein cholesterol level quantitative trait locus 6	GUncertain significance
Select item 2684655	GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3	BCO2, DIXDC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642372	NM_031938.7(BCO2):c.732A>C (p.Pro244=)	BCO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623580	NM_031938.7(BCO2):c.727G>A (p.Gly243Arg)	BCO2 (G209R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609141	NM_031938.7(BCO2):c.1338G>T (p.Trp446Cys)	BCO2 (W341C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599578	NM_031938.7(BCO2):c.1153C>G (p.Gln385Glu)	BCO2 (Q280E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589684	NM_031938.7(BCO2):c.1069C>T (p.His357Tyr)	BCO2 (H252Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540229	NM_031938.7(BCO2):c.668C>G (p.Ala223Gly)	BCO2 (A189G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525064	NM_031938.7(BCO2):c.1720G>C (p.Gly574Arg)	BCO2 (G534R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524748	NM_031938.7(BCO2):c.550C>T (p.Arg184Trp)	BCO2 (R79W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524280	NM_031938.7(BCO2):c.1267G>A (p.Glu423Lys)	BCO2 (E318K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518180	NM_031938.7(BCO2):c.298A>G (p.Asn100Asp)	BCO2 (N66D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508373	NM_031938.7(BCO2):c.402C>G (p.Asn134Lys)	BCO2 (N100K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497720	NM_031938.7(BCO2):c.748_755del (p.Lys250fs)	BCO2 (K145fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2495406	NM_031938.7(BCO2):c.418A>G (p.Ile140Val)	BCO2 (I140V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495215	NM_031938.7(BCO2):c.1578T>G (p.Asn526Lys)	BCO2 (N492K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480510	NM_031938.7(BCO2):c.14T>C (p.Val5Ala)	BCO2 (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461175	NM_031938.7(BCO2):c.830C>G (p.Thr277Arg)	BCO2 (T172R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	ALG9, BCO2 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 2375088	NM_031938.7(BCO2):c.1331C>T (p.Thr444Met)	BCO2 (T371M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363519	NM_031938.7(BCO2):c.926T>C (p.Ile309Thr)	BCO2 (I236T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363518	NM_031938.7(BCO2):c.1060G>A (p.Val354Ile)	BCO2 (V281I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334879	NM_031938.7(BCO2):c.712A>C (p.Met238Leu)	BCO2 (M204L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326043	NM_031938.7(BCO2):c.47C>T (p.Thr16Ile)	BCO2 (T16I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315991	NM_031938.7(BCO2):c.971G>A (p.Ser324Asn)	BCO2 (S290N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260205	NM_031938.7(BCO2):c.943C>T (p.Arg315Trp)	BCO2 (R242W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247087	NM_031938.7(BCO2):c.1594G>C (p.Val532Leu)	BCO2 (V427L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240506	NM_031938.7(BCO2):c.167C>T (p.Pro56Leu)	BCO2 (P22L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232786	NM_031938.7(BCO2):c.1532G>A (p.Gly511Asp)	BCO2 (G406D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216747	NM_031938.7(BCO2):c.65C>T (p.Pro22Leu)	BCO2 (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979324	GRCh37/hg19 11q23.1(chr11:111974627-112188807)x1	PLET1, PTS +4 more	Copy number loss	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 778561	NM_031938.7(BCO2):c.1414C>T (p.Arg472Ter)	BCO2 (R472* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 53