"GeneDx"[submitter] AND "NDUFA12"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192151	NM_018838.5(NDUFA12):c.*62C>T	NDUFA12	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3363282	NM_018838.5(NDUFA12):c.432C>T (p.Tyr144=)	NDUFA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 806925	NM_018838.5(NDUFA12):c.395AGA[1] (p.Lys133del)	NDUFA12 (K133del)	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378239	NM_018838.5(NDUFA12):c.333G>A (p.Thr111=)	NDUFA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1033909	NM_018838.5(NDUFA12):c.278T>C (p.Met93Thr)	NDUFA12 (M93T)	Single nucleotide variant (stop lost +1 more)	Leigh syndrome +1 more	GUncertain significance
Select item 1291707	NM_018838.5(NDUFA12):c.258-293dup	NDUFA12	Duplication (intron variant)	not provided	GBenign
Select item 682690	NM_018838.5(NDUFA12):c.257+190G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238629	NM_018838.5(NDUFA12):c.257+162G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382094	NM_018838.5(NDUFA12):c.257+8A>G	NDUFA12	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 802883	NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter)	NDUFA12 (E85*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 23 +1 more	GPathogenic/Likely pathogenic
Select item 3343458	NM_018838.5(NDUFA12):c.235G>A (p.Gly79Arg)	NDUFA12 (G79R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505024	NM_018838.5(NDUFA12):c.211A>G (p.Lys71Glu)	NDUFA12 (K71E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31207	NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter)	NDUFA12 (R60*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1282209	NM_018838.5(NDUFA12):c.170-151G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229139	NM_018838.5(NDUFA12):c.169+277T>C	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209393	NM_018838.5(NDUFA12):c.169+271G>T	NDUFA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682689	NM_018838.5(NDUFA12):c.169+271G>C	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514391	NM_018838.5(NDUFA12):c.169+11T>C	NDUFA12	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1276540	NM_018838.5(NDUFA12):c.87-72T>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200794	NM_018838.5(NDUFA12):c.87-197G>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676157	NM_018838.5(NDUFA12):c.86+96C>A	NDUFA12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214696	NM_018838.5(NDUFA12):c.66C>G (p.Gly22=)	NDUFA12	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 515734	NM_018838.5(NDUFA12):c.63A>G (p.Arg21=)	NDUFA12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 214695	NM_018838.5(NDUFA12):c.44C>G (p.Thr15Ser)	NDUFA12 (T15S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2663250	NM_018838.5(NDUFA12):c.5A>G (p.Glu2Gly)	NDUFA12 (E2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308939	NM_018838.5(NDUFA12):c.1A>G (p.Met1Val)	NDUFA12 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 388276	NM_018838.5(NDUFA12):c.-11A>G	NDUFA12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509468	NM_018838.5(NDUFA12):c.-15G>T	NDUFA12	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390002	NM_018838.4(NDUFA12):c.-44G>T	NDUFA12	Single nucleotide variant	not specified	GLikely benign
Select item 1209370	NC_000012.12:g.95003741C>T	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 1186171	NC_000012.12:g.95003742A>C	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 1182774	NC_000012.12:g.95003776T>C	NDUFA12	Single nucleotide variant	not provided	GBenign
Select item 678337	NM_018838.4(NDUFA12):c.-120G>T	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 1221146	NC_000012.12:g.95003868G>T	NDUFA12	Single nucleotide variant	not provided	GBenign
Select item 1190827	NC_000012.12:g.95003939T>A	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 669509	NM_018838.4(NDUFA12):c.-301G>A	NDUFA12	Single nucleotide variant	not provided	GBenign
Select item 1188406	NC_000012.12:g.95004031C>A	NDUFA12	Single nucleotide variant	not provided	GLikely benign
Select item 3361287	NM_018838.5(NDUFA12):c.244G>T (p.Val82Leu)	NDUFA12 (V82L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 38