NDUFB8[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 1366032	NM_005004.4(NDUFB8):c.557T>A (p.Ile186Asn)	NDUFB8 (I155N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2390592	NM_005004.4(NDUFB8):c.539G>A (p.Arg180Gln)	NDUFB8 (R180Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1962008	NM_005004.4(NDUFB8):c.516T>C (p.Gly172=)	NDUFB8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2417490	NM_005004.4(NDUFB8):c.514G>A (p.Gly172Ser)	NDUFB8 (G141S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1532643	NM_005004.4(NDUFB8):c.513C>T (p.Gly171=)	NDUFB8	Single nucleotide variant (3 prime UTR variant +1 more)	NDUFB8-related disorder +1 more	GBenign
Select item 1500345	NM_005004.4(NDUFB8):c.508C>T (p.Arg170Ter)	NDUFB8 (R139* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3188002	NM_005004.4(NDUFB8):c.473C>T (p.Pro158Leu)	NDUFB8 (P158L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187997	NM_005004.4(NDUFB8):c.472C>T (p.Pro158Ser)	NDUFB8 (P127S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2846432	NM_005004.4(NDUFB8):c.469-4G>C	NDUFB8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3048758	NM_005004.4(NDUFB8):c.469-222_469-220del	NDUFB8	Deletion (intron variant)	NDUFB8-related disorder	GLikely benign
Select item 1168768	NM_005004.4(NDUFB8):c.468+11G>A	NDUFB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1465946	NM_005004.4(NDUFB8):c.454G>C (p.Val152Leu)	NDUFB8 (V121L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559174	NM_005004.4(NDUFB8):c.445G>A (p.Val149Met)	NDUFB8 (V118M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1561627	NM_005004.4(NDUFB8):c.444C>T (p.Asp148=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347564	NM_005004.4(NDUFB8):c.443A>G (p.Asp148Gly)	NDUFB8 (D148G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518957	NM_005004.4(NDUFB8):c.442G>C (p.Asp148His)	NDUFB8 (D117H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 548132	NM_005004.4(NDUFB8):c.432C>G (p.Cys144Trp)	NDUFB8 (C144W +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 32	GPathogenic
Select item 2190087	NM_005004.4(NDUFB8):c.427A>G (p.Met143Val)	NDUFB8 (M143V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418766	NM_005004.4(NDUFB8):c.420G>T (p.Met140Ile)	NDUFB8 (M109I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991425	NM_005004.4(NDUFB8):c.403G>A (p.Gly135Ser)	NDUFB8 (G135S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497908	NM_005004.4(NDUFB8):c.402C>A (p.Phe134Leu)	NDUFB8 (F103L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935610	NM_005004.4(NDUFB8):c.399C>T (p.Leu133=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652204	NM_005004.4(NDUFB8):c.399C>G (p.Leu133=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166226	NM_005004.4(NDUFB8):c.373T>A (p.Ser125Thr)	NDUFB8 (S125T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2069291	NM_005004.4(NDUFB8):c.368C>G (p.Pro123Arg)	NDUFB8 (P123R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1677231	NM_005004.4(NDUFB8):c.358del (p.Ser120fs)	NDUFB8 (S120fs +1 more)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 32	GLikely pathogenic
Select item 2161981	NM_005004.4(NDUFB8):c.347G>A (p.Arg116His)	NDUFB8 (R116H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149745	NM_005004.4(NDUFB8):c.346C>T (p.Arg116Cys)	NDUFB8 (R116C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620721	NM_005004.4(NDUFB8):c.339C>T (p.Asn113=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955708	NM_005004.4(NDUFB8):c.313-11T>C	NDUFB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167556	NM_005004.4(NDUFB8):c.311C>T (p.Pro104Leu)	NDUFB8 (P104L +1 more)	Single nucleotide variant (missense variant)	NDUFB8-related disorder +1 more	GBenign
Select item 2155908	NM_005004.4(NDUFB8):c.309A>G (p.Glu103=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2072186	NM_005004.4(NDUFB8):c.302G>C (p.Trp101Ser)	NDUFB8 (W101S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356898	NM_005004.4(NDUFB8):c.294G>T (p.Arg98Ser)	NDUFB8 (R67S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911814	NM_005004.4(NDUFB8):c.285G>A (p.Pro95=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885656	NM_005004.4(NDUFB8):c.284C>T (p.Pro95Leu)	NDUFB8 (P95L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479764	NM_005004.4(NDUFB8):c.241C>T (p.Arg81Cys)	NDUFB8 (R81C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118160	NM_005004.4(NDUFB8):c.238G>A (p.Asp80Asn)	NDUFB8 (D49N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073095	NM_005004.4(NDUFB8):c.232C>T (p.Leu78Phe)	NDUFB8 (L78F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 548131	NM_005004.4(NDUFB8):c.227C>A (p.Pro76Gln)	NDUFB8 (P76Q +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 32	GPathogenic
Select item 3036656	NM_005004.4(NDUFB8):c.213-11_213-9dup	NDUFB8	Duplication (intron variant)	NDUFB8-related disorder	GLikely benign
Select item 1900420	NM_005004.4(NDUFB8):c.213-14T>G	NDUFB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106117	NM_005004.4(NDUFB8):c.213-20A>C	NDUFB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268122	NM_005004.4(NDUFB8):c.212+59G>T	NDUFB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2073266	NM_005004.4(NDUFB8):c.212+20C>T	NDUFB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1552382	NM_005004.4(NDUFB8):c.212+8A>G	NDUFB8	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3036133	NM_005004.4(NDUFB8):c.212+3G>A	NDUFB8	Single nucleotide variant (intron variant)	NDUFB8-related disorder	GLikely benign
Select item 1674439	NM_005004.4(NDUFB8):c.199G>A (p.Asp67Asn)	NDUFB8 (D36N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 548133	NM_005004.4(NDUFB8):c.189del (p.Glu63fs)	NDUFB8 (E32fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 548134	NM_005004.4(NDUFB8):c.184T>C (p.Tyr62His)	NDUFB8 (Y62H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 32	GPathogenic
Select item 2889726	NM_005004.4(NDUFB8):c.169A>C (p.Met57Leu)	NDUFB8 (M57L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2135385	NM_005004.4(NDUFB8):c.158A>G (p.Lys53Arg)	NDUFB8 (K53R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416769	NM_005004.4(NDUFB8):c.147C>T (p.Ala49=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163387	NM_005004.4(NDUFB8):c.105C>T (p.Asp35=)	NDUFB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061951	NM_005004.4(NDUFB8):c.87C>G (p.Ala29=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1408057	NM_005004.4(NDUFB8):c.86-3T>C	NDUFB8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2079478	NM_005004.4(NDUFB8):c.86-4C>T	NDUFB8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1568914	NM_005004.4(NDUFB8):c.86-11C>T	NDUFB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861316	NM_005004.4(NDUFB8):c.86-16C>A	NDUFB8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264789	NM_005004.4(NDUFB8):c.85+36G>A	NDUFB8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989393	NM_005004.4(NDUFB8):c.85+6C>T	NDUFB8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3005292	NM_005004.4(NDUFB8):c.85G>C (p.Ala29Pro)	NDUFB8 (A29P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917083	NM_005004.4(NDUFB8):c.78A>G (p.Ala26=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1373622	NM_005004.4(NDUFB8):c.48G>C (p.Arg16Ser)	NDUFB8 (R16S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3187983	NM_005004.4(NDUFB8):c.35A>G (p.Gln12Arg)	NDUFB8 (Q12R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1546550	NM_005004.4(NDUFB8):c.33C>A (p.Val11=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	NDUFB8-related disorder +1 more	GLikely benign
Select item 1407999	NM_005004.4(NDUFB8):c.32T>C (p.Val11Ala)	NDUFB8 (V11A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2718703	NM_005004.4(NDUFB8):c.30A>G (p.Gly10=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1514195	NM_005004.4(NDUFB8):c.29G>T (p.Gly10Val)	NDUFB8 (G10V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1905326	NM_005004.4(NDUFB8):c.27G>A (p.Leu9=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2194345	NM_005004.4(NDUFB8):c.25T>G (p.Leu9Val)	NDUFB8 (L9V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079479	NM_005004.4(NDUFB8):c.22G>C (p.Val8Leu)	NDUFB8 (V8L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1570710	NM_005004.4(NDUFB8):c.21G>C (p.Gly7=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2161343	NM_005004.4(NDUFB8):c.18C>G (p.Ala6=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1913108	NM_005004.4(NDUFB8):c.12C>T (p.Ala4=)	NDUFB8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1244849	NC_000010.11:g.100529986C>G	NDUFB8	Single nucleotide variant	not provided	GBenign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2684617	GRCh37/hg19 10q24.31(chr10:102205412-102516321)x3	HIF1AN, NDUFB8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424804	NC_000010.10:g.(?_102283594)_(102510668_?)del	NDUFB8, HIF1AN +1 more	Deletion	Renal coloboma syndrome +1 more	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 815373	GRCh37/hg19 10q24.31(chr10:101932457-102392841)x3	WNT8B, NDUFB8 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 94