NDUFV2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 242

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	LINC01892, LINC01895 +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	LOC105372173, LOC105372179 +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	LOC126862690, LOC126862691 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	ADCYAP1, AFG3L2 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LINC00470, LINC00526 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	ADCYAP1, AFG3L2 +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	LOC125368546, LOC125368547 +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	LOC130062172, LOC130062173 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	RAB31, RALBP1 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +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	LOC130062369, LOC130062370 +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	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	LOC130062167, LOC130062168 +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	LOC130062212, LOC130062213 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	ADCYAP1, AFG3L2 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	ADCYAP1, AFG3L2 +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	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +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	TGIF1, THOC1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	LOC112543419, LOC112543420 +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	LOC130062178, LOC130062179 +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	ABHD3, AFG3L2 +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 1275223	NC_000018.10:g.9102331C>A	NDUFV2	Single nucleotide variant	not provided	GBenign
Select item 1194245	NC_000018.10:g.9102457G>A	LOC130062145, NDUFV2	Single nucleotide variant	not provided	GLikely benign
Select item 1229924	NC_000018.10:g.9102511T>C	LOC130062145, NDUFV2	Single nucleotide variant	not provided	GBenign
Select item 1296284	NC_000018.10:g.9102564G>A	LOC130062145, NDUFV2	Single nucleotide variant	not provided	GBenign
Select item 327871	NM_021074.4(NDUFV2):c.-98G>T	LOC130062145, NDUFV2	Single nucleotide variant	Mitochondrial complex I deficiency	GUncertain significance
Select item 327872	NM_021074.4(NDUFV2):c.-94A>T	LOC130062145, NDUFV2	Single nucleotide variant	Mitochondrial complex I deficiency	GUncertain significance
Select item 327873	NM_021074.4(NDUFV2):c.-83C>T	LOC130062145, NDUFV2	Single nucleotide variant	Mitochondrial complex I deficiency	GUncertain significance
Select item 327874	NM_021074.5(NDUFV2):c.-39G>T	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 327875	NM_021074.5(NDUFV2):c.-30G>T	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380625	NM_021074.5(NDUFV2):c.-13A>G	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 378263	NM_021074.5(NDUFV2):c.-5C>A	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 889249	NM_021074.5(NDUFV2):c.6C>T (p.Phe2=)	LOC130062145, NDUFV2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1209343	NM_021074.5(NDUFV2):c.8T>C (p.Phe3Ser)	LOC130062145, NDUFV2 (F3S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2228453	NM_021074.5(NDUFV2):c.11C>T (p.Ser4Phe)	LOC130062145, NDUFV2 (S4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 327876	NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)	LOC130062145, NDUFV2 (A6G)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1635745	NM_021074.5(NDUFV2):c.21C>G (p.Leu7=)	LOC130062145, NDUFV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076617	NM_021074.5(NDUFV2):c.23G>A (p.Arg8Gln)	LOC130062145, NDUFV2 (R8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663557	NM_021074.5(NDUFV2):c.28C>T (p.Arg10Trp)	LOC130062145, NDUFV2 (R10W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028713	NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu)	LOC130062145, NDUFV2 (R10L)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1911157	NM_021074.5(NDUFV2):c.39C>G (p.Gly13=)	LOC130062145, NDUFV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417190	NM_021074.5(NDUFV2):c.43A>G (p.Thr15Ala)	LOC130062145, NDUFV2 (T15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715638	NM_021074.5(NDUFV2):c.44C>T (p.Thr15Ile)	NDUFV2 (T15I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924515	NM_021074.5(NDUFV2):c.45C>T (p.Thr15=)	NDUFV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383157	NM_021074.5(NDUFV2):c.46G>A (p.Ala16Thr)	NDUFV2 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400211	NM_021074.5(NDUFV2):c.51C>G (p.His17Gln)	NDUFV2 (H17Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904496	NM_021074.5(NDUFV2):c.54+20G>T	NDUFV2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219156	NM_021074.5(NDUFV2):c.54+217G>A	NDUFV2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267616	NM_021074.5(NDUFV2):c.54+252AT[6]	NDUFV2	Microsatellite (intron variant)	not provided	GBenign
Select item 669519	NM_021074.5(NDUFV2):c.55-274C>T	NDUFV2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188574	NM_021074.5(NDUFV2):c.59G>T (p.Arg20Ile)	NDUFV2 (R20I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1194462	NM_021074.5(NDUFV2):c.62_63del (p.His21fs)	NDUFV2 (H21fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 9054	NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala)	NDUFV2 (V29A)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 7 +3 more	GBenign
Select item 618752	NM_021074.5(NDUFV2):c.116T>G (p.Phe39Cys)	NDUFV2 (F39C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138505	NM_021074.5(NDUFV2):c.118G>A (p.Val40Met)	NDUFV2 (V40M)	Single nucleotide variant (missense variant)	NDUFV2-related condition +2 more	GBenign
Select item 632301	NM_021074.5(NDUFV2):c.120+1G>C	NDUFV2	Single nucleotide variant (splice donor variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 279920	NM_021074.5(NDUFV2):c.120+5_120+8del	NDUFV2	Microsatellite (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 7 +1 more	GPathogenic
Select item 2150299	NM_021074.5(NDUFV2):c.120+5G>C	NDUFV2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1428138	NM_021074.5(NDUFV2):c.120+9T>G	NDUFV2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 669520	NM_021074.5(NDUFV2):c.121-289T>G	NDUFV2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678068	NM_021074.5(NDUFV2):c.121-168T>C	NDUFV2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194382	NM_021074.5(NDUFV2):c.121-64T>C	NDUFV2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2296714	NM_021074.5(NDUFV2):c.121-6G>A	NDUFV2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2434097	NM_021074.5(NDUFV2):c.121-3T>C	NDUFV2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 7	GUncertain significance
Select item 1347209	NM_021074.5(NDUFV2):c.143_151del (p.Asn48_Asp50del)	NDUFV2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3188541	NM_021074.5(NDUFV2):c.169C>A (p.Pro57Thr)	NDUFV2 (P57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070172	NM_021074.5(NDUFV2):c.183+4T>C	NDUFV2	Single nucleotide variant (intron variant)	NDUFV2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 138506	NM_021074.5(NDUFV2):c.183+19T>A	NDUFV2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1958592	NM_021074.5(NDUFV2):c.184-18G>A	NDUFV2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392390	NM_021074.5(NDUFV2):c.192G>A (p.Glu64=)	NDUFV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2483394	NM_021074.5(NDUFV2):c.193G>A (p.Ala65Thr)	NDUFV2 (A65T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2822108	NM_021074.5(NDUFV2):c.206dup (p.Asn69fs)	NDUFV2 (N69fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 129703	NM_021074.5(NDUFV2):c.201A>T (p.Val67=)	NDUFV2	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GBenign
Select item 2001695	NM_021074.5(NDUFV2):c.204A>C (p.Lys68Asn)	NDUFV2 (K68N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983996	NM_021074.5(NDUFV2):c.230_236del (p.Ala77fs)	NDUFV2 (A77fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1457142	NM_021074.5(NDUFV2):c.237_246del (p.Leu80fs)	NDUFV2 (L80fs)	Deletion (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 3