"GeneDx"[submitter] AND "NDUFA10"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 335168	NM_004544.4(NDUFA10):c.*2309G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 896838	NM_004544.4(NDUFA10):c.*2133A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 335174	NM_004544.4(NDUFA10):c.*1957G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 335175	NM_004544.4(NDUFA10):c.1923_1924insA	NDUFA10	Insertion (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1260963	NM_004544.4(NDUFA10):c.1900_1917del	NDUFA10	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 895504	NM_004544.4(NDUFA10):c.*1878C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 335188	NM_004544.4(NDUFA10):c.*647C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 335189	NM_004544.4(NDUFA10):c.*631C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +2 more	GBenign
Select item 335192	NM_004544.4(NDUFA10):c.*438C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 335193	NM_004544.4(NDUFA10):c.*414G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 895707	NM_004544.4(NDUFA10):c.*396C>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 335198	NM_004544.4(NDUFA10):c.*308C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 389483	NM_004544.4(NDUFA10):c.*8G>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 387759	NM_004544.4(NDUFA10):c.*3G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 138441	NM_004544.4(NDUFA10):c.*2C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 386300	NM_004544.4(NDUFA10):c.1032C>T (p.Asn344=)	NDUFA10 (T308I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 897590	NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His)	NDUFA10 (R337H +1 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 507546	NM_004544.4(NDUFA10):c.1005G>A (p.Pro335=)	NDUFA10 (R299Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214705	NM_004544.4(NDUFA10):c.1000-3C>G	NDUFA10	Single nucleotide variant (intron variant)	not provided +2 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 676156	NM_004544.4(NDUFA10):c.1000-88G>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671406	NM_004544.4(NDUFA10):c.1000-192G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669508	NM_004544.4(NDUFA10):c.999+183G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181105	NM_004544.4(NDUFA10):c.999+67C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely 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 1218836	NM_004544.4(NDUFA10):c.891-155_891-152del	NDUFA10	Deletion (intron variant)	not provided	GLikely benign
Select item 1252998	NM_004544.4(NDUFA10):c.891-190G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673741	NM_004544.4(NDUFA10):c.891-215C>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669886	NM_004544.4(NDUFA10):c.890+193A>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673704	NM_004544.4(NDUFA10):c.890+81T>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214430	NM_004544.4(NDUFA10):c.890+46G>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508527	NM_004544.4(NDUFA10):c.870T>C (p.Thr290=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 791086	NM_004544.4(NDUFA10):c.805-9C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669885	NM_004544.4(NDUFA10):c.805-263G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673201	NM_004544.4(NDUFA10):c.805-300C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669879	NM_004544.4(NDUFA10):c.804+174C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677603	NM_004544.4(NDUFA10):c.804+122T>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223097	NM_004544.4(NDUFA10):c.804+48T>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511584	NM_004544.4(NDUFA10):c.804+12G>C	NDUFA10	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1193114	NM_004544.4(NDUFA10):c.750-86G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671405	NM_004544.4(NDUFA10):c.750-268T>C	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669878	NM_004544.4(NDUFA10):c.750-279C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673200	NM_004544.4(NDUFA10):c.749+284C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673199	NM_004544.4(NDUFA10):c.749+278C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
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 512918	NM_004544.4(NDUFA10):c.749+15C>T	NDUFA10	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 335201	NM_004544.4(NDUFA10):c.749+11C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138438	NM_004544.4(NDUFA10):c.749+3G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 138437	NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)	NDUFA10 (E238K)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 3364853	NM_004544.4(NDUFA10):c.670-3T>A	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1215357	NM_004544.4(NDUFA10):c.670-274A>G	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1248452	NM_004544.4(NDUFA10):c.669+317C>T	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1212642	NM_004544.4(NDUFA10):c.669+172C>T	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1260551	NM_004544.4(NDUFA10):c.669+151G>T	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 671558	NM_004544.4(NDUFA10):c.669+77C>T	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1220201	NM_004544.4(NDUFA10):c.669+65del	NDUFA10	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1291402	NM_004544.4(NDUFA10):c.669+46T>C	NDUFA10	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 214704	NM_004544.4(NDUFA10):c.622G>C (p.Asp208His)	NDUFA10 (D208H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373298	NM_004544.4(NDUFA10):c.589G>A (p.Asp197Asn)	NDUFA10 (D197N)	Single nucleotide variant (missense variant +1 more)	not provided	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 2504715	NM_004544.4(NDUFA10):c.577G>A (p.Val193Ile)	NDUFA10 (V193I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 452968	NM_004544.4(NDUFA10):c.548-2A>G	NDUFA10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 1181237	NM_004544.4(NDUFA10):c.548-311A>G	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669507	NM_004544.4(NDUFA10):c.548-316G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669869	NM_004544.4(NDUFA10):c.547+236C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669868	NM_004544.4(NDUFA10):c.547+169C>T	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383620	NM_004544.4(NDUFA10):c.547+18A>G	NDUFA10	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 506862	NM_004544.4(NDUFA10):c.516G>A (p.Ala172=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 384259	NM_004544.4(NDUFA10):c.461-3C>T	NDUFA10	Single nucleotide variant (intron variant)	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 1223040	NM_004544.4(NDUFA10):c.461-73G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499727	NM_004544.4(NDUFA10):c.444G>C (p.Glu148Asp)	NDUFA10 (E148D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577650	NM_004544.4(NDUFA10):c.415C>T (p.Arg139Cys)	NDUFA10 (R139C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 214708	NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)	NDUFA10 (L135S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
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 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 389198	NM_004544.4(NDUFA10):c.297A>G (p.Gly99=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1327627	NM_004544.4(NDUFA10):c.296G>A (p.Gly99Glu)	NDUFA10 (G99E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 379127	NM_004544.4(NDUFA10):c.264A>G (p.Glu88=)	NDUFA10	Single nucleotide variant (synonymous variant +1 more)	not specified	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 671403	NM_004544.4(NDUFA10):c.244+167G>A	NDUFA10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214698	NM_004544.4(NDUFA10):c.215A>G (p.Lys72Arg)	NDUFA10 (K72R)	Single nucleotide variant (missense variant +1 more)	not specified	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

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