NDUFA10[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 452

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
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 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	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 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 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 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +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 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 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 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	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 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 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 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	PRR21, RNPEPL1 +84 more	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 149525	GRCh38/hg38 2q37.3(chr2:239135440-240003606)x3	HDAC4, HDAC4-AS1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 2652082	NR_136158.2(NDUFA10):n.4373A>G	NDUFA10	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1801460	NC_000002.12:g.239921648_239921688del	NDUFA10	Deletion (genic downstream transcript variant)	Schizophrenia	GUncertain significance
Select item 1801470	NC_000002.12:g.239925792_239928083del	NDUFA10	Deletion (genic downstream transcript variant)	Schizophrenia	GUncertain significance
Select item 896660	NM_004544.4(NDUFA10):c.*3724G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 896661	NM_004544.4(NDUFA10):c.*3711A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335151	NM_004544.4(NDUFA10):c.*3557G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 897120	NM_004544.4(NDUFA10):c.*3544C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GBenign/Likely benign
Select item 897121	NM_004544.4(NDUFA10):c.*3490G>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 897122	NM_004544.4(NDUFA10):c.*3456T>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335152	NM_004544.4(NDUFA10):c.*3450G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 898284	NM_004544.4(NDUFA10):c.*3409G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335153	NM_004544.4(NDUFA10):c.*3408T>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 895289	NM_004544.4(NDUFA10):c.*3403A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335154	NM_004544.4(NDUFA10):c.*3349G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 895290	NM_004544.4(NDUFA10):c.*3347C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 895291	NM_004544.4(NDUFA10):c.*3301C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 335155	NM_004544.4(NDUFA10):c.*3205G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 335156	NM_004544.4(NDUFA10):c.*3204C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +2 more	GBenign
Select item 896710	NM_004544.4(NDUFA10):c.*3175T>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 896711	NM_004544.4(NDUFA10):c.*3143C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335157	NM_004544.4(NDUFA10):c.*3141C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 335158	NM_004544.4(NDUFA10):c.*3113G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335159	NM_004544.4(NDUFA10):c.*3098A>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 897183	NM_004544.4(NDUFA10):c.*3095A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335160	NM_004544.4(NDUFA10):c.*3075T>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 335161	NM_004544.4(NDUFA10):c.*3067C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 898349	NM_004544.4(NDUFA10):c.*3052G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 898350	NM_004544.4(NDUFA10):c.*3009T>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335162	NM_004544.4(NDUFA10):c.*2997G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 895371	NM_004544.4(NDUFA10):c.*2900G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 895372	NM_004544.4(NDUFA10):c.*2838C>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335163	NM_004544.4(NDUFA10):c.*2685C>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 896774	NM_004544.4(NDUFA10):c.*2659A>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335164	NM_004544.4(NDUFA10):c.*2649G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 896775	NM_004544.4(NDUFA10):c.*2648C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335165	NM_004544.4(NDUFA10):c.*2602C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 897252	NM_004544.4(NDUFA10):c.*2511C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GBenign/Likely benign
Select item 335166	NM_004544.4(NDUFA10):c.*2495C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign/Likely benign
Select item 897253	NM_004544.4(NDUFA10):c.*2455C>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335167	NM_004544.4(NDUFA10):c.*2397A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +1 more	GUncertain significance
Select item 897254	NM_004544.4(NDUFA10):c.*2382C>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 898429	NM_004544.4(NDUFA10):c.*2350G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
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 335169	NM_004544.4(NDUFA10):c.*2297T>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 898430	NM_004544.4(NDUFA10):c.*2242T>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 895440	NM_004544.4(NDUFA10):c.*2202C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign/Likely benign
Select item 335170	NM_004544.4(NDUFA10):c.*2192T>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 335171	NM_004544.4(NDUFA10):c.*2149C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 895441	NM_004544.4(NDUFA10):c.*2136T>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
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 335172	NM_004544.4(NDUFA10):c.*2111G>A	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 3026392	NM_004544.4(NDUFA10):c.*2110C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 896839	NM_004544.4(NDUFA10):c.*2079A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 896840	NM_004544.4(NDUFA10):c.*2046T>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 335173	NM_004544.4(NDUFA10):c.*2042A>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 897335	NM_004544.4(NDUFA10):c.*2009G>C	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 897336	NM_004544.4(NDUFA10):c.*1992C>T	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
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 898492	NM_004544.4(NDUFA10):c.*1943A>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 898493	NM_004544.4(NDUFA10):c.*1930C>G	NDUFA10	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 5