ClinVar for Gene (Select 55967) - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187036	NM_018838.5(NDUFA12):c.56G>A (p.Gly19Asp)	NDUFA12 (G19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187019	NM_018838.5(NDUFA12):c.274A>T (p.Ser92Cys)	NDUFA12 (S92C)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3063933	NC_000012.11:g.(95365397_95387945)_(95397474_?)dup	NDUFA12	Duplication	not specified	GUncertain significance
Select item 3058471	NM_018838.5(NDUFA12):c.111A>G (p.Thr37=)	NDUFA12	Single nucleotide variant (synonymous variant)	NDUFA12-related condition	GLikely benign
Select item 2663250	NM_018838.5(NDUFA12):c.5A>G (p.Glu2Gly)	NDUFA12 (E2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536030	NM_018838.5(NDUFA12):c.382T>G (p.Ser128Ala)	NDUFA12 (S128A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505024	NM_018838.5(NDUFA12):c.211A>G (p.Lys71Glu)	NDUFA12 (K71E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434081	NM_018838.5(NDUFA12):c.153CAA[1] (p.Asn52del)	NDUFA12 (N52del)	Microsatellite (inframe_deletion)	Mitochondrial complex 1 deficiency, nuclear type 23	GUncertain significance
Select item 2426498	NC_000012.11:g.(?_95396495)_(95397456_?)dup	NDUFA12	Duplication	not provided	GUncertain significance
Select item 2418589	NM_018838.5(NDUFA12):c.327T>C (p.Ile109=)	NDUFA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2321700	NM_018838.5(NDUFA12):c.403C>G (p.Gln135Glu)	NDUFA12 (Q135E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230748	NM_018838.5(NDUFA12):c.37C>G (p.Gln13Glu)	NDUFA12 (Q13E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217304	NM_018838.5(NDUFA12):c.44C>T (p.Thr15Ile)	NDUFA12 (T15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187499	NM_018838.5(NDUFA12):c.40A>C (p.Ile14Leu)	NDUFA12 (I14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181928	NM_018838.5(NDUFA12):c.262C>T (p.Arg88Cys)	NDUFA12 (R88C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171013	NM_018838.5(NDUFA12):c.215A>G (p.Asn72Ser)	NDUFA12 (N72S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2156716	NM_018838.5(NDUFA12):c.61del (p.Arg21fs)	NDUFA12 (R21fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2143469	NM_018838.5(NDUFA12):c.169+1G>A	NDUFA12	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2110895	NM_018838.5(NDUFA12):c.379T>C (p.Tyr127His)	NDUFA12 (Y127H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2090992	NM_018838.5(NDUFA12):c.169+4A>G	NDUFA12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2007343	NM_018838.5(NDUFA12):c.437A>G (p.Ter146=)	NDUFA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1984324	NM_018838.5(NDUFA12):c.169+9A>G	NDUFA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965109	NM_018838.5(NDUFA12):c.33G>A (p.Leu11=)	NDUFA12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931710	NM_018838.5(NDUFA12):c.325A>T (p.Ile109Phe)	NDUFA12 (I109F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1926973	NM_018838.5(NDUFA12):c.16G>T (p.Val6Phe)	NDUFA12 (V6F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804814	NM_018838.5(NDUFA12):c.305del (p.Pro102fs)	NDUFA12 (P102fs)	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1713586	NM_018838.5(NDUFA12):c.317G>T (p.Arg106Leu)	NDUFA12 (R106L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1687005	NM_018838.5(NDUFA12):c.83del (p.Phe28fs)	NDUFA12 (F28fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 23	GPathogenic
Select item 1638961	NM_018838.5(NDUFA12):c.257+11A>G	NDUFA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638157	NM_018838.5(NDUFA12):c.159G>A (p.Lys53=)	NDUFA12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608385	NM_018838.5(NDUFA12):c.291T>C (p.Pro97=)	NDUFA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1570587	NM_018838.5(NDUFA12):c.48C>T (p.Gly16=)	NDUFA12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514000	NM_018838.5(NDUFA12):c.179G>A (p.Arg60Gln)	NDUFA12 (R60Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509281	NM_018838.5(NDUFA12):c.263G>A (p.Arg88His)	NDUFA12 (R88H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1506647	NM_018838.5(NDUFA12):c.98C>G (p.Ala33Gly)	NDUFA12 (A33G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436040	NM_018838.5(NDUFA12):c.349G>A (p.Val117Met)	NDUFA12 (V117M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1432037	NM_018838.5(NDUFA12):c.260A>G (p.His87Arg)	NDUFA12 (I58V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1431156	NM_018838.5(NDUFA12):c.281C>A (p.Thr94Asn)	NDUFA12 (T94N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1429238	NM_018838.5(NDUFA12):c.27C>T (p.Arg9=)	NDUFA12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420946	NM_018838.5(NDUFA12):c.317G>A (p.Arg106His)	NDUFA12 (R106H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1391641	NM_018838.5(NDUFA12):c.175C>A (p.His59Asn)	NDUFA12 (H59N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1354410	NM_018838.5(NDUFA12):c.46G>C (p.Gly16Arg)	NDUFA12 (G16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352574	NM_018838.5(NDUFA12):c.13C>T (p.Gln5Ter)	NDUFA12 (Q5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1308939	NM_018838.5(NDUFA12):c.1A>G (p.Met1Val)	NDUFA12 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1291707	NM_018838.5(NDUFA12):c.258-293dup	NDUFA12	Duplication (intron variant)	not provided	GBenign
Select item 1282209	NM_018838.5(NDUFA12):c.170-151G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276540	NM_018838.5(NDUFA12):c.87-72T>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238629	NM_018838.5(NDUFA12):c.257+162G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229139	NM_018838.5(NDUFA12):c.169+277T>C	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221146	NC_000012.12:g.95003868G>T	NDUFA12	Single nucleotide variant	not provided	GBenign
Select item 1220539	NM_018838.5(NDUFA12):c.224G>A (p.Trp75Ter)	NDUFA12 (W75*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 23	GPathogenic
Select item 1220538	NM_018838.5(NDUFA12):c.395del (p.Lys132fs)	NDUFA12 (K132fs)	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 23	GPathogenic
Select item 1220537	NM_018838.5(NDUFA12):c.86G>A (p.Arg29Lys)	NDUFA12 (R29K)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 23	GPathogenic
Select item 1209393	NM_018838.5(NDUFA12):c.169+271G>T	NDUFA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209370	NC_000012.12:g.95003741C>T	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 1200794	NM_018838.5(NDUFA12):c.87-197G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192151	NM_018838.5(NDUFA12):c.*62C>T	NDUFA12	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1190827	NC_000012.12:g.95003939T>A	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 1188406	NC_000012.12:g.95004031C>A	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 1186171	NC_000012.12:g.95003742A>C	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 1182774	NC_000012.12:g.95003776T>C	NDUFA12	Single nucleotide variant	not provided	GBenign
Select item 1174997	NM_018838.5(NDUFA12):c.338A>G (p.His113Arg)	NDUFA12 (H113R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1174935	NM_018838.5(NDUFA12):c.83dup (p.Arg29fs)	NDUFA12 (R29fs)	Duplication (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 23	GUncertain significance
Select item 1033909	NM_018838.5(NDUFA12):c.278T>C (p.Met93Thr)	NDUFA12 (M93T)	Single nucleotide variant (stop lost +1 more)	not provided +1 more	GUncertain significance
Select item 1030675	NM_018838.5(NDUFA12):c.69T>G (p.Tyr23Ter)	NDUFA12 (Y23*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 23 +1 more	GPathogenic/Likely pathogenic
Select item 813938	NM_018838.5(NDUFA12):c.121dup (p.Glu41fs)	NDUFA12 (E41fs)	Duplication (frameshift variant)	Leigh syndrome	GUncertain significance
Select item 806925	NM_018838.5(NDUFA12):c.395AGA[1] (p.Lys133del)	NDUFA12 (K133del)	Microsatellite (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 802883	NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter)	NDUFA12 (E85*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 23	GPathogenic
Select item 800980	NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter)	NDUFA12 (E2*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 23	GPathogenic/Likely pathogenic
Select item 800053	NM_018838.5(NDUFA12):c.96T>C (p.Asp32=)	NDUFA12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789447	NM_018838.5(NDUFA12):c.216C>T (p.Asn72=)	NDUFA12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 747881	NM_018838.5(NDUFA12):c.57T>C (p.Gly19=)	NDUFA12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 682690	NM_018838.5(NDUFA12):c.257+190G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682689	NM_018838.5(NDUFA12):c.169+271G>C	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678337	NM_018838.4(NDUFA12):c.-120G>T	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 676157	NM_018838.5(NDUFA12):c.86+96C>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669509	NM_018838.4(NDUFA12):c.-301G>A	NDUFA12	Single nucleotide variant	not provided	GBenign
Select item 515734	NM_018838.5(NDUFA12):c.63A>G (p.Arg21=)	NDUFA12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 514391	NM_018838.5(NDUFA12):c.169+11T>C	NDUFA12	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 509468	NM_018838.5(NDUFA12):c.-15G>T	NDUFA12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 390002	NM_018838.3(NDUFA12):c.-44G>T	NDUFA12	Single nucleotide variant	not specified	GLikely benign
Select item 388276	NM_018838.5(NDUFA12):c.-11A>G	NDUFA12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 382094	NM_018838.5(NDUFA12):c.257+8A>G	NDUFA12	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 378239	NM_018838.5(NDUFA12):c.333G>A (p.Thr111=)	NDUFA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 214696	NM_018838.5(NDUFA12):c.66C>G (p.Gly22=)	NDUFA12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 214695	NM_018838.5(NDUFA12):c.44C>G (p.Thr15Ser)	NDUFA12 (T15S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 31207	NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter)	NDUFA12 (R60*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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Links from Gene

Items: 92