ClinVar for Gene (Select 388962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134759	NM_212552.3(BOLA3):c.40C>T (p.Arg14Cys)	BOLA3 (R14C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2989497	NM_212552.3(BOLA3):c.169+17T>C	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840587	NM_212552.3(BOLA3):c.312C>T (p.Val104=)	BOLA3 (P75S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2742245	NM_212552.3(BOLA3):c.306C>T (p.Thr102=)	BOLA3 (L73F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2542408	NM_212552.3(BOLA3):c.26C>T (p.Ala9Val)	BOLA3 (A9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513715	NM_212552.3(BOLA3):c.32C>T (p.Pro11Leu)	BOLA3 (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	ACTG2, ALMS1 +35 more	Copy number loss	not provided	GUncertain significance
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 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	INO80B, LBX2 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2233687	NM_212552.3(BOLA3):c.22G>A (p.Ala8Thr)	BOLA3 (A8T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211028	NM_212552.3(BOLA3):c.283A>G (p.Met95Val)	BOLA3 (D65G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2110196	NM_212552.3(BOLA3):c.268G>A (p.Glu90Lys)	BOLA3 (E90K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101167	NM_212552.3(BOLA3):c.142A>G (p.Thr48Ala)	BOLA3 (T48A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084593	NM_212552.3(BOLA3):c.93G>C (p.Glu31Asp)	BOLA3 (E31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057780	NM_212552.3(BOLA3):c.49C>T (p.Arg17Cys)	BOLA3 (R17C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041386	NM_212552.3(BOLA3):c.46_54dup (p.Gly18_Leu19insIleArgGly)	BOLA3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1991226	NM_212552.3(BOLA3):c.146C>A (p.Ala49Asp)	BOLA3 (A49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969752	NM_212552.3(BOLA3):c.54+19G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956622	NM_212552.3(BOLA3):c.54+15G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	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 1926617	NM_212552.3(BOLA3):c.169+14C>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917964	NM_212552.3(BOLA3):c.188A>T (p.Tyr63Phe)	BOLA3 (Y63F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914534	NM_212552.3(BOLA3):c.54+3G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1909108	NM_212552.3(BOLA3):c.89C>A (p.Thr30Asn)	BOLA3 (T30N)	Single nucleotide variant (missense variant)	not provided +1 more	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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
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 1662730	NM_212552.3(BOLA3):c.170-11G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575596	NM_212552.3(BOLA3):c.54+16G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564363	NM_212552.3(BOLA3):c.259-19A>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536295	NM_212552.3(BOLA3):c.141T>C (p.Ala47=)	BOLA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485570	NM_212552.3(BOLA3):c.298A>G (p.Ile100Val)	BOLA3 (D70G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1485090	NM_212552.3(BOLA3):c.54G>C (p.Gly18=)	BOLA3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1448369	NM_212552.3(BOLA3):c.71G>A (p.Arg24Gln)	BOLA3 (R24Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401092	NM_212552.3(BOLA3):c.82A>G (p.Thr28Ala)	BOLA3 (T28A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370328	NM_212552.3(BOLA3):c.320G>A (p.Arg107His)	BOLA3 (R107H)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1350519	NM_212552.3(BOLA3):c.187T>A (p.Tyr63Asn)	BOLA3 (Y63N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1277088	NM_212552.3(BOLA3):c.259-299A>C	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274965	NM_212552.3(BOLA3):c.54+64C>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274800	NM_212552.3(BOLA3):c.259-291del	BOLA3	Deletion (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 1265913	NR_045634.1(BOLA3-DT):n.160_169del	BOLA3, BOLA3-DT	Deletion (non-coding transcript variant)	not provided	GBenign
Select item 1264967	NC_000002.12:g.74135335_74135337dup	BOLA3, TET3	Duplication	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 1220343	NM_212552.3(BOLA3):c.259-309_259-307dup	BOLA3	Duplication (intron variant)	not provided	GLikely benign
Select item 1208158	NM_212552.3(BOLA3):c.54+294A>G	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 1190295	NR_045634.1(BOLA3-DT):n.119C>T	BOLA3, BOLA3-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
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 1177910	NM_212552.3(BOLA3):c.169+101G>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176091	NM_212552.3(BOLA3):c.57T>G (p.Leu19=)	BOLA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163414	NM_212552.3(BOLA3):c.20C>T (p.Ala7Val)	BOLA3 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163413	NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln)	BOLA3 (R99Q)	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 2 +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 1019413	NM_212552.3(BOLA3):c.14G>T (p.Ser5Ile)	BOLA3 (S5I)	Single nucleotide variant (missense variant)	not provided	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 752040	NM_212552.3(BOLA3):c.93G>A (p.Glu31=)	BOLA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685166	GRCh37/hg19 2p13.1(chr2:74364945-74476818)x3	MOB1A, BOLA3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 683414	NM_212552.3(BOLA3):c.258+248T>A	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683413	NM_212552.3(BOLA3):c.169+321C>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683410	NM_212552.3(BOLA3):c.55-248T>G	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683407	NM_212552.3(BOLA3):c.54+307G>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 676829	NM_212552.2(BOLA3):c.-164G>C	BOLA3, BOLA3-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 676297	NM_212552.3(BOLA3):c.169+141C>T	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 669781	NM_212552.3(BOLA3):c.259-205A>T	BOLA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 516412	NM_212552.3(BOLA3):c.54+12C>G	BOLA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
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 385800	NM_212552.3(BOLA3):c.169+14C>A	BOLA3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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)	not provided +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)	Inborn genetic diseases +2 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)	not provided +2 more	GConflicting classifications of pathogenicity

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