"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NDUFV2" - ClinVar

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

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 889249	NM_021074.5(NDUFV2):c.6C>T (p.Phe2=)	LOC130062145, NDUFV2	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 327876	NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)	LOC130062145, NDUFV2 (A6G)	Single nucleotide variant (missense variant)	not provided +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 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 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 138505	NM_021074.5(NDUFV2):c.118G>A (p.Val40Met)	NDUFV2 (V40M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 1347209	NM_021074.5(NDUFV2):c.143_151del (p.Asn48_Asp50del)	NDUFV2	Deletion (inframe_deletion)	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 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 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)	not provided +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)	Inborn genetic diseases +1 more	GPathogenic
Select item 1457142	NM_021074.5(NDUFV2):c.237_246del (p.Leu80fs)	NDUFV2 (L80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2054766	NM_021074.5(NDUFV2):c.300+2T>A	NDUFV2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2090557	NM_021074.5(NDUFV2):c.300+11C>T	NDUFV2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214864	NM_021074.5(NDUFV2):c.301-3del	NDUFV2, NDUFV2-AS1	Deletion (intron variant)	not provided +1 more	GBenign
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 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 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 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 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 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)	Inborn genetic diseases +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 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 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 1535181	NM_021074.5(NDUFV2):c.579+16A>G	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
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 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 617494	NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs)	NDUFV2, NDUFV2-AS1 (S224fs)	Insertion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 7 +1 more	GConflicting classifications of pathogenicity
Select item 2055574	NM_021074.5(NDUFV2):c.688G>A (p.Gly230Ser)	NDUFV2, NDUFV2-AS1 (G230S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 1412277	NC_000018.9:g.(?_9119453)_(9119738_?)del	NDUFV2	Deletion	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59