ClinVar for MedGen (Select 482008) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585013	NM_212552.3(BOLA3):c.295C>T (p.Arg99Trp)	BOLA3 (R99W +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 2577215	NM_212552.3(BOLA3):c.259-1G>C	BOLA3	Single nucleotide variant (splice acceptor variant)	Multiple mitochondrial dysfunctions syndrome 2	GLikely pathogenic
Select item 2439541	NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)	BOLA3 (T28P)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 2439540	NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)	BOLA3 (C74fs +1 more)	Microsatellite (frameshift variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 1878638	NM_212552.3(BOLA3):c.170G>A (p.Gly57Glu)	BOLA3 (G57E)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 1679842	NM_212552.3(BOLA3):c.253A>G (p.Asn85Asp)	BOLA3 (N85D)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 1189446	NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr)	BOLA3 (C59Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1163413	NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln)	BOLA3 (R99Q)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029542	NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu)	BOLA3 (F26L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029541	NM_212552.3(BOLA3):c.317A>G (p.Lys106Arg)	BOLA3 (K106R)	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 1029540	NM_212552.3(BOLA3):c.131T>G (p.Phe44Cys)	BOLA3 (F44C)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 898379	NM_212552.3(BOLA3):c.*134T>C	BOLA3, TET3	Single nucleotide variant (3 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 895392	NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr)	BOLA3 (A7T)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 895391	NM_212552.3(BOLA3):c.21C>T (p.Ala7=)	BOLA3	Single nucleotide variant (synonymous variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 816938	NM_212552.3(BOLA3):c.220_222del (p.Glu74del)	BOLA3 (E74del)	Deletion (inframe_deletion +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GPathogenic/Likely pathogenic
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 390067	NM_212552.3(BOLA3):c.258+9A>C	BOLA3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337060	NM_212552.3(BOLA3):c.-35C>T	BOLA3	Single nucleotide variant (5 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 337059	NM_212552.3(BOLA3):c.-8G>A	BOLA3	Single nucleotide variant (5 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	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 +2 more	GConflicting classifications of pathogenicity
Select item 337057	NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr)	BOLA3 (A61T)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 337056	NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu)	BOLA3 (Q86E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 337055	NM_212552.3(BOLA3):c.*31T>C	BOLA3 (L89S)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
Select item 337054	NM_212552.3(BOLA3):c.*190G>A	BOLA3, TET3	Single nucleotide variant (3 prime UTR variant)	Multiple mitochondrial dysfunctions syndrome 2	GUncertain significance
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 214170	NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys)	BOLA3 (R107C +1 more)	Single nucleotide variant (missense variant)	BOLA3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 214169	NM_212552.3(BOLA3):c.45G>T (p.Gly15=)	BOLA3	Single nucleotide variant (synonymous variant)	BOLA3-related condition +3 more	GBenign/Likely benign
Select item 31020	NM_212552.3(BOLA3):c.123dup (p.Glu42fs)	BOLA3 (E42fs)	Duplication (frameshift variant)	Multiple mitochondrial dysfunctions syndrome 2	GPathogenic

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Items: 28