ClinVar for Gene (Select 4729) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342596	NM_021074.5(NDUFV2):c.1A>C (p.Met1Leu)	LOC130062145, NDUFV2 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 3188580	NM_021074.5(NDUFV2):c.628G>C (p.Ala210Pro)	NDUFV2, NDUFV2-AS1 (A210P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3188541	NM_021074.5(NDUFV2):c.169C>A (p.Pro57Thr)	NDUFV2 (P57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3062026	NM_021074.5(NDUFV2):c.656+8T>A	NDUFV2-AS1, NDUFV2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 7	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 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 2822108	NM_021074.5(NDUFV2):c.206dup (p.Asn69fs)	NDUFV2 (N69fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
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 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 2555072	NM_021074.5(NDUFV2):c.250G>C (p.Asp84His)	NDUFV2 (D84H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2446113	NM_021074.5(NDUFV2):c.614T>C (p.Ile205Thr)	NDUFV2, NDUFV2-AS1 (I205T)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 2430787	NM_021074.5(NDUFV2):c.664C>T (p.Arg222Cys)	NDUFV2, NDUFV2-AS1 (R222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 2418491	NM_021074.5(NDUFV2):c.747T>G (p.Leu249=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2298128	NM_021074.5(NDUFV2):c.292A>G (p.Met98Val)	NDUFV2 (M98V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296714	NM_021074.5(NDUFV2):c.121-6G>A	NDUFV2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 2258145	NM_021074.5(NDUFV2):c.659G>A (p.Ser220Asn)	NDUFV2, NDUFV2-AS1 (S220N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2192139	NM_021074.5(NDUFV2):c.324T>C (p.Pro108=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150299	NM_021074.5(NDUFV2):c.120+5G>C	NDUFV2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2090557	NM_021074.5(NDUFV2):c.300+11C>T	NDUFV2	Single nucleotide variant (intron 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 2070172	NM_021074.5(NDUFV2):c.183+4T>C	NDUFV2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2055574	NM_021074.5(NDUFV2):c.688G>A (p.Gly230Ser)	NDUFV2, NDUFV2-AS1 (G230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054766	NM_021074.5(NDUFV2):c.300+2T>A	NDUFV2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2022073	NM_021074.5(NDUFV2):c.580-9_580-8insG	NDUFV2, NDUFV2-AS1	Insertion (intron variant)	not provided	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 2008118	NM_021074.5(NDUFV2):c.580-5T>C	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1993808	NM_021074.5(NDUFV2):c.505_506del (p.Phe169fs)	NDUFV2, NDUFV2-AS1 (F169fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1983996	NM_021074.5(NDUFV2):c.230_236del (p.Ala77fs)	NDUFV2 (A77fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1958592	NM_021074.5(NDUFV2):c.184-18G>A	NDUFV2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1924515	NM_021074.5(NDUFV2):c.45C>T (p.Thr15=)	NDUFV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1904496	NM_021074.5(NDUFV2):c.54+20G>T	NDUFV2	Single nucleotide variant (intron variant)	not provided	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 1808491	GRCh37/hg19 18p11.22(chr18:8585096-9660466)x1	ANKRD12, MTCL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
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 1707328	NM_021074.5(NDUFV2):c.528T>C (p.Cys176=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
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 1704593	NC_000018.9:g.(9124982_9126828)_(9126906_9134183)del	NDUFV2	Deletion	Mitochondrial complex 1 deficiency, nuclear type 7	GLikely pathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
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 1605555	NM_021074.5(NDUFV2):c.580-5dup	NDUFV2, NDUFV2-AS1	Duplication (intron variant)	not provided	GBenign
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 1535181	NM_021074.5(NDUFV2):c.579+16A>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	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 1474504	NM_021074.5(NDUFV2):c.627G>T (p.Lys209Asn)	NDUFV2, NDUFV2-AS1 (K209N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1457142	NM_021074.5(NDUFV2):c.237_246del (p.Leu80fs)	NDUFV2 (L80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1435214	NM_021074.5(NDUFV2):c.583G>C (p.Asp195His)	NDUFV2, NDUFV2-AS1 (D195H)	Single nucleotide variant (missense 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 1417190	NM_021074.5(NDUFV2):c.43A>G (p.Thr15Ala)	LOC130062145, NDUFV2 (T15A)	Single nucleotide variant (missense variant)	not provided	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 1412277	NC_000018.9:g.(?_9119453)_(9119738_?)del	NDUFV2	Deletion	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 1383157	NM_021074.5(NDUFV2):c.46G>A (p.Ala16Thr)	NDUFV2 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1347209	NM_021074.5(NDUFV2):c.143_151del (p.Asn48_Asp50del)	NDUFV2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
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 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
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 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 1296284	NC_000018.10:g.9102564G>A	LOC130062145, NDUFV2	Single nucleotide variant	not provided	GBenign
Select item 1291055	NC_000018.10:g.9134440C>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant	not provided	GBenign
Select item 1275223	NC_000018.10:g.9102331C>A	NDUFV2	Single nucleotide variant	not provided	GBenign

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