NDUFV2-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 154424	GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3	ANKRD12, ARHGAP28 +47 more	Copy number gain	See cases	GUncertain significance
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 58752	GRCh38/hg38 18p11.23-11.22(chr18:7542605-9320894)x3	ANKRD12, GACAT2 +39 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 150127	GRCh38/hg38 18p11.22(chr18:9026805-9592203)x3	ANKRD12, LOC130062140 +20 more	Copy number gain	See cases	GUncertain significance
Select item 676088	NM_021074.5(NDUFV2):c.301-25A>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 327877	NM_021074.5(NDUFV2):c.301-10A>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214864	NM_021074.5(NDUFV2):c.301-3del	NDUFV2, NDUFV2-AS1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1306416	NM_021074.5(NDUFV2):c.319G>A (p.Val107Ile)	NDUFV2, NDUFV2-AS1 (V107I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1321629	NM_021074.5(NDUFV2):c.322C>A (p.Pro108Thr)	NDUFV2, NDUFV2-AS1 (P108T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2192139	NM_021074.5(NDUFV2):c.324T>C (p.Pro108=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 384983	NM_021074.5(NDUFV2):c.324T>A (p.Pro108=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3256772	NM_021074.5(NDUFV2):c.346G>C (p.Ala116Pro)	NDUFV2, NDUFV2-AS1 (A116P)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 7	GLikely pathogenic
Select item 1377511	NM_021074.5(NDUFV2):c.361A>G (p.Met121Val)	NDUFV2, NDUFV2-AS1 (M121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052726	NM_021074.5(NDUFV2):c.381T>C (p.Val127=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	NDUFV2-related disorder	GLikely benign
Select item 1901338	NM_021074.5(NDUFV2):c.394dup (p.Ile132fs)	NDUFV2, NDUFV2-AS1 (I132fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1482652	NM_021074.5(NDUFV2):c.413C>T (p.Thr138Ile)	NDUFV2, NDUFV2-AS1 (T138I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919352	NM_021074.5(NDUFV2):c.415C>T (p.Pro139Ser)	NDUFV2, NDUFV2-AS1 (P139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 327878	NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr)	NDUFV2, NDUFV2-AS1 (P139T)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1033973	NM_021074.5(NDUFV2):c.427C>T (p.Arg143Ter)	NDUFV2, NDUFV2-AS1 (R143*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 7	GUncertain significance
Select item 290426	NM_021074.5(NDUFV2):c.428G>A (p.Arg143Gln)	NDUFV2, NDUFV2-AS1 (R143Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445415	NM_021074.5(NDUFV2):c.434_435del (p.Asn144_Ser145insTer)	NDUFV2, NDUFV2-AS1	Microsatellite (nonsense)	not provided	GLikely pathogenic
Select item 632302	NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter)	NDUFV2, NDUFV2-AS1 (D146*)	Duplication (nonsense)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 889926	NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu)	NDUFV2, NDUFV2-AS1 (I148L)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 889927	NM_021074.5(NDUFV2):c.469+12A>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2096593	NM_021074.5(NDUFV2):c.469+13T>A	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195238	NM_021074.5(NDUFV2):c.469+288_469+304del	NDUFV2, NDUFV2-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1179830	NM_021074.5(NDUFV2):c.470-129G>T	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225683	NM_021074.5(NDUFV2):c.470-59del	NDUFV2, NDUFV2-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1178199	NM_021074.5(NDUFV2):c.470-60_470-59del	NDUFV2, NDUFV2-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2284787	NM_021074.5(NDUFV2):c.470G>A (p.Gly157Glu)	NDUFV2, NDUFV2-AS1 (G157E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049229	NM_021074.5(NDUFV2):c.472A>G (p.Ile158Val)	NDUFV2, NDUFV2-AS1 (I158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2398092	NM_021074.5(NDUFV2):c.491_492insGT (p.Pro165fs)	NDUFV2, NDUFV2-AS1 (P165fs)	Insertion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2332803	NM_021074.5(NDUFV2):c.497A>G (p.Asp166Gly)	NDUFV2, NDUFV2-AS1 (D166G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1993808	NM_021074.5(NDUFV2):c.505_506del (p.Phe169fs)	NDUFV2, NDUFV2-AS1 (F169fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1924596	NM_021074.5(NDUFV2):c.503T>C (p.Leu168Pro)	NDUFV2, NDUFV2-AS1 (L168P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 327879	NM_021074.5(NDUFV2):c.510T>C (p.Thr170=)	NDUFV2-AS1, NDUFV2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1467817	NM_021074.5(NDUFV2):c.512T>C (p.Leu171Pro)	NDUFV2, NDUFV2-AS1 (L171P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214865	NM_021074.5(NDUFV2):c.515T>C (p.Ile172Thr)	NDUFV2-AS1, NDUFV2 (I172T)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2008502	NM_021074.5(NDUFV2):c.526T>C (p.Cys176Arg)	NDUFV2, NDUFV2-AS1 (C176R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707328	NM_021074.5(NDUFV2):c.528T>C (p.Cys176=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570010	NM_021074.5(NDUFV2):c.540T>C (p.Cys180=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 327880	NM_021074.5(NDUFV2):c.546C>T (p.Asn182=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1705393	NM_021074.5(NDUFV2):c.547G>A (p.Ala183Thr)	NDUFV2, NDUFV2-AS1 (A183T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1332721	NM_021074.5(NDUFV2):c.548C>T (p.Ala183Val)	NDUFV2, NDUFV2-AS1 (A183V)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 7	GUncertain significance
Select item 214867	NM_021074.5(NDUFV2):c.553A>G (p.Met185Val)	NDUFV2-AS1, NDUFV2 (M185V)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 7 +1 more	GUncertain significance
Select item 1412531	NM_021074.5(NDUFV2):c.562A>G (p.Ile188Val)	NDUFV2, NDUFV2-AS1 (I188V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214866	NM_021074.5(NDUFV2):c.569A>G (p.Asp190Gly)	NDUFV2, NDUFV2-AS1 (D190G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3188566	NM_021074.5(NDUFV2):c.572A>G (p.Asn191Ser)	NDUFV2, NDUFV2-AS1 (N191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188570	NM_021074.5(NDUFV2):c.577T>A (p.Tyr193Asn)	NDUFV2, NDUFV2-AS1 (Y193N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434096	NM_021074.5(NDUFV2):c.579+1G>A	NDUFV2, NDUFV2-AS1	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 7	GUncertain significance
Select item 1535181	NM_021074.5(NDUFV2):c.579+16A>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675925	NM_021074.5(NDUFV2):c.579+130T>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673224	NM_021074.5(NDUFV2):c.579+308ATC[4]	NDUFV2, NDUFV2-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1217721	NM_021074.5(NDUFV2):c.580-252C>A	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516390	NM_021074.5(NDUFV2):c.580-20A>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1605555	NM_021074.5(NDUFV2):c.580-5dup	NDUFV2, NDUFV2-AS1	Duplication (intron variant)	not provided	GBenign
Select item 138507	NM_021074.5(NDUFV2):c.580-12T>A	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2022073	NM_021074.5(NDUFV2):c.580-9_580-8insG	NDUFV2, NDUFV2-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2008118	NM_021074.5(NDUFV2):c.580-5T>C	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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