"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NDUFA10 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2011969	NM_004544.4(NDUFA10):c.1049A>T (p.Lys350Met)	NDUFA10 (K350M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919183	NM_004544.4(NDUFA10):c.1009C>T (p.Arg337Cys)	NDUFA10 (R337C)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 507546	NM_004544.4(NDUFA10):c.1005G>A (p.Pro335=)	NDUFA10 (R299Q)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 380672	NM_004544.4(NDUFA10):c.1000-5C>G	NDUFA10	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 214702	NM_004544.4(NDUFA10):c.1000-5del	NDUFA10	Deletion (intron variant)	Mitochondrial complex I deficiency +3 more	GBenign/Likely benign
Select item 214700	NM_004544.4(NDUFA10):c.1000-10del	NDUFA10	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1394003	NM_004544.4(NDUFA10):c.999+4A>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 898749	NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr)	NDUFA10 (H329Y)	Single nucleotide variant (missense variant +2 more)	Leigh syndrome +2 more	GUncertain significance
Select item 1911755	NM_004544.4(NDUFA10):c.977G>A (p.Arg326His)	NDUFA10 (R326H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1400345	NM_004544.4(NDUFA10):c.976C>T (p.Arg326Cys)	NDUFA10 (R326C)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 22 +2 more	GUncertain significance
Select item 1975711	NM_004544.4(NDUFA10):c.891-16G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726374	NM_004544.4(NDUFA10):c.890+17G>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880361	NM_004544.4(NDUFA10):c.890+15G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996599	NM_004544.4(NDUFA10):c.890+8C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666262	NM_004544.4(NDUFA10):c.890+7G>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904317	NM_004544.4(NDUFA10):c.884G>A (p.Arg295Gln)	NDUFA10 (R295Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962861	NM_004544.4(NDUFA10):c.878_879inv (p.His293Arg)	NDUFA10 (H293R)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 335200	NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys)	NDUFA10 (R289C)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 2183374	NM_004544.4(NDUFA10):c.856C>G (p.Gln286Glu)	NDUFA10 (Q286E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1427425	NM_004544.4(NDUFA10):c.845C>T (p.Pro282Leu)	NDUFA10 (P282L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 791086	NM_004544.4(NDUFA10):c.805-9C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930121	NM_004544.4(NDUFA10):c.804+19A>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900475	NM_004544.4(NDUFA10):c.804+18A>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910380	NM_004544.4(NDUFA10):c.804+17A>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909047	NM_004544.4(NDUFA10):c.794A>G (p.Asp265Gly)	NDUFA10 (D265G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899188	NM_004544.4(NDUFA10):c.788C>G (p.Ala263Gly)	NDUFA10 (A263G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 129686	NM_004544.4(NDUFA10):c.771A>G (p.Gln257=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 2715502	NM_004544.4(NDUFA10):c.753A>G (p.Glu251=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 516374	NM_004544.4(NDUFA10):c.749+16G>A	NDUFA10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1169265	NM_004544.4(NDUFA10):c.749+14A>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 335201	NM_004544.4(NDUFA10):c.749+11C>T	NDUFA10	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2006727	NM_004544.4(NDUFA10):c.749+8A>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138438	NM_004544.4(NDUFA10):c.749+3G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1483702	NM_004544.4(NDUFA10):c.739C>T (p.Pro247Ser)	NDUFA10 (P247S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1605553	NM_004544.4(NDUFA10):c.738C>T (p.Leu246=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 138437	NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)	NDUFA10 (E238K)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1367085	NM_004544.4(NDUFA10):c.706G>A (p.Asp236Asn)	NDUFA10 (D236N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1358604	NM_004544.4(NDUFA10):c.694G>C (p.Ala232Pro)	NDUFA10 (A232P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182190	NM_004544.4(NDUFA10):c.674A>G (p.His225Arg)	NDUFA10 (H225R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927750	NM_004544.4(NDUFA10):c.669+16A>G	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 214706	NM_004544.4(NDUFA10):c.631G>A (p.Val211Ile)	NDUFA10 (V211I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 895781	NM_004544.4(NDUFA10):c.630C>T (p.Pro210=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2889745	NM_004544.4(NDUFA10):c.621C>T (p.Ile207=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 632354	NM_004544.4(NDUFA10):c.604dup (p.His202fs)	NDUFA10 (H202fs)	Duplication (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 22 +1 more	GConflicting classifications of pathogenicity
Select item 2061077	NM_004544.4(NDUFA10):c.601C>G (p.Pro201Ala)	NDUFA10 (P201A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2045423	NM_004544.4(NDUFA10):c.599C>T (p.Pro200Leu)	NDUFA10 (P200L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1343846	NM_004544.4(NDUFA10):c.588C>G (p.Cys196Trp)	NDUFA10 (C196W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720115	NM_004544.4(NDUFA10):c.588C>T (p.Cys196=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1615209	NM_004544.4(NDUFA10):c.567G>A (p.Glu189=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1923570	NM_004544.4(NDUFA10):c.565G>A (p.Glu189Lys)	NDUFA10 (E189K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961253	NM_004544.4(NDUFA10):c.564C>T (p.Asn188=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 335202	NM_004544.4(NDUFA10):c.549T>C (p.Cys183=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138436	NM_004544.4(NDUFA10):c.548-9A>G	NDUFA10	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 384583	NM_004544.4(NDUFA10):c.548-15T>C	NDUFA10	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1993440	NM_004544.4(NDUFA10):c.547+7C>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056673	NM_004544.4(NDUFA10):c.482G>A (p.Arg161His)	NDUFA10 (R161H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1489325	NM_004544.4(NDUFA10):c.481C>T (p.Arg161Cys)	NDUFA10 (R161C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065076	NM_004544.4(NDUFA10):c.475T>C (p.Leu159=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 506865	NM_004544.4(NDUFA10):c.461-12A>G	NDUFA10	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2111643	NM_004544.4(NDUFA10):c.450G>C (p.Leu150Phe)	NDUFA10 (L150F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1634280	NM_004544.4(NDUFA10):c.423G>A (p.Leu141=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1655375	NM_004544.4(NDUFA10):c.417C>T (p.Arg139=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214708	NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)	NDUFA10 (L135S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1491999	NM_004544.4(NDUFA10):c.382A>G (p.Ser128Gly)	NDUFA10 (S128G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899003	NM_004544.4(NDUFA10):c.371A>G (p.Asn124Ser)	NDUFA10 (N124S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 897655	NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1715517	NM_004544.4(NDUFA10):c.341T>G (p.Leu114Trp)	NDUFA10 (L114W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1448862	NM_004544.4(NDUFA10):c.332A>G (p.Asn111Ser)	NDUFA10 (N111S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504415	NM_004544.4(NDUFA10):c.313G>A (p.Ala105Thr)	NDUFA10 (A105T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 511015	NM_004544.4(NDUFA10):c.312C>T (p.Leu104=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2037035	NM_004544.4(NDUFA10):c.309C>T (p.Pro103=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2045684	NM_004544.4(NDUFA10):c.266C>T (p.Ala89Val)	NDUFA10 (A89V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784168	NM_004544.4(NDUFA10):c.245-8C>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138439	NM_004544.4(NDUFA10):c.245-19C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1611764	NM_004544.4(NDUFA10):c.207A>G (p.Gly69=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214697	NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser)	NDUFA10 (N65S)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 729013	NM_004544.4(NDUFA10):c.147A>G (p.Ala49=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1517470	NM_004544.4(NDUFA10):c.139G>A (p.Asp47Asn)	NDUFA10 (D47N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2006833	NM_004544.4(NDUFA10):c.136G>A (p.Gly46Arg)	NDUFA10 (G46R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951413	NM_004544.4(NDUFA10):c.110G>A (p.Arg37His)	NDUFA10 (R37H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 129685	NM_004544.4(NDUFA10):c.105A>G (p.Lys35=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 1714031	NM_004544.4(NDUFA10):c.98A>G (p.Gln33Arg)	NDUFA10 (Q33R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2014326	NM_004544.4(NDUFA10):c.91A>C (p.Ser31Arg)	NDUFA10 (S31R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402798	NM_004544.4(NDUFA10):c.86A>G (p.His29Arg)	NDUFA10 (H29R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1690800	NM_004544.4(NDUFA10):c.76-2A>G	NDUFA10	Single nucleotide variant (splice acceptor variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 1967369	NM_004544.4(NDUFA10):c.76-14T>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063752	NM_004544.4(NDUFA10):c.75+17G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1415097	NM_004544.4(NDUFA10):c.73G>T (p.Val25Leu)	NDUFA10 (V25L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003553	NM_004544.4(NDUFA10):c.66C>T (p.Ala22=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1537298	NM_004544.4(NDUFA10):c.48G>A (p.Arg16=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2110569	NM_004544.4(NDUFA10):c.23dup (p.Ala9fs)	NDUFA10 (A9fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 138440	NM_004544.4(NDUFA10):c.24G>A (p.Leu8=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GBenign
Select item 1718918	NM_004544.4(NDUFA10):c.17T>G (p.Leu6Arg)	NDUFA10 (L6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2816432	NM_004544.4(NDUFA10):c.12G>A (p.Arg4=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 290734	NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly)	NDUFA10 (A2G)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +3 more	GBenign
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	DTYMK, ESPNL +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, OR6B3 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411213	NC_000002.11:g.(?_240900535)_(240900623_?)dup	NDUFA10	Duplication	not provided	GUncertain significance
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	LRRFIP1, MAB21L4 +53 more	Duplication	D-2-hydroxyglutaric aciduria 1 +3 more	GUncertain significance

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