"GeneDx"[submitter] AND "BOLA3"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1264967	NC_000002.12:g.74135335_74135337dup	BOLA3, TET3	Duplication	not provided	GBenign
Select item 214170	NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys)	BOLA3 (R107C +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 136530	NM_212552.3(BOLA3):c.259-18T>G	BOLA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 669781	NM_212552.3(BOLA3):c.259-205A>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274334	NM_212552.3(BOLA3):c.259-309_259-308dup	BOLA3	Duplication (intron variant)	not provided	GBenign
Select item 1266728	NM_212552.3(BOLA3):c.259-309dup	BOLA3	Duplication (intron variant)	not provided	GBenign
Select item 1220343	NM_212552.3(BOLA3):c.259-309_259-307dup	BOLA3	Duplication (intron variant)	not provided	GLikely benign
Select item 1274800	NM_212552.3(BOLA3):c.259-291del	BOLA3	Deletion (intron variant)	not provided	GBenign
Select item 1277088	NM_212552.3(BOLA3):c.259-299A>C	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683414	NM_212552.3(BOLA3):c.258+248T>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390067	NM_212552.3(BOLA3):c.258+9A>C	BOLA3	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 337056	NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu)	BOLA3 (Q86E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 816698	NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)	BOLA3 (I67N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1189446	NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr)	BOLA3 (C59Y)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 683413	NM_212552.3(BOLA3):c.169+321C>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676297	NM_212552.3(BOLA3):c.169+141C>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177910	NM_212552.3(BOLA3):c.169+101G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677802	NM_212552.3(BOLA3):c.169+28C>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192008	NM_212552.3(BOLA3):c.169+26G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385800	NM_212552.3(BOLA3):c.169+14C>A	BOLA3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1940977	NM_212552.3(BOLA3):c.164T>C (p.Ile55Thr)	BOLA3 (I55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337058	NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)	BOLA3 (R46Q)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 224514	NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)	BOLA3 (R46*)	Single nucleotide variant (nonsense)	Multiple mitochondrial dysfunctions syndrome 2 +1 more	GPathogenic
Select item 1309343	NM_212552.3(BOLA3):c.70C>T (p.Arg24Trp)	BOLA3 (R24W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683410	NM_212552.3(BOLA3):c.55-248T>G	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673657	NM_212552.3(BOLA3):c.55-322A>G	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683407	NM_212552.3(BOLA3):c.54+307G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208158	NM_212552.3(BOLA3):c.54+294A>G	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274965	NM_212552.3(BOLA3):c.54+64C>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259956	NM_212552.3(BOLA3):c.54+46G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516412	NM_212552.3(BOLA3):c.54+12C>G	BOLA3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 214169	NM_212552.3(BOLA3):c.45G>T (p.Gly15=)	BOLA3	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 2 +2 more	GBenign/Likely benign
Select item 895392	NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr)	BOLA3 (A7T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 508299	NM_212552.3(BOLA3):c.9A>G (p.Ala3=)	BOLA3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 676829	NM_212552.2(BOLA3):c.-164G>C	BOLA3, BOLA3-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1190295	NC_000002.12:g.74148099C>T	BOLA3, BOLA3-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1265913	NC_000002.12:g.74148140_74148149del	BOLA3, BOLA3-DT	Deletion (non-coding transcript variant)	not provided	GBenign
Select item 3362017	NM_212552.3(BOLA3):c.163A>G (p.Ile55Val)	BOLA3 (I55V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 38