"GeneDx"[submitter] AND "NDUFV2-AS1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
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 676088	NM_021074.5(NDUFV2):c.301-25A>G	NDUFV2, NDUFV2-AS1	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 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 384983	NM_021074.5(NDUFV2):c.324T>A (p.Pro108=)	NDUFV2, NDUFV2-AS1	Single nucleotide variant (synonymous variant)	not specified	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 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 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 1707328	NM_021074.5(NDUFV2):c.528T>C (p.Cys176=)	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 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 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 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 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 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 1191920	NM_021074.5(NDUFV2):c.657-239del	NDUFV2, NDUFV2-AS1	Deletion (intron variant)	not provided	GLikely benign
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 617494	NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs)	NDUFV2, NDUFV2-AS1 (S224fs)	Insertion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985293	NM_021074.5(NDUFV2):c.680C>T (p.Pro227Leu)	NDUFV2, NDUFV2-AS1 (P227L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1190748	NC_000018.10:g.9134346T>C	NDUFV2, NDUFV2-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 369253	NM_021074.4(NDUFV2):c.*77C>G	NDUFV2, NDUFV2-AS1	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 1248210	NC_000018.10:g.9134359C>T	NDUFV2, NDUFV2-AS1	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 1193782	NC_000018.10:g.9134515C>T	NDUFV2, NDUFV2-AS1	Single nucleotide variant	not provided	GLikely benign

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Items: 33