ClinVar for MedGen (Select 864080) - ClinVar

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

Links from MedGen

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254561	NM_024678.6(NARS2):c.936_949dup (p.Asn317delinsIleCysTer)	NARS2	Duplication (nonsense)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 2682376	NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del	NARS2	Deletion	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 2663835	NM_024678.6(NARS2):c.707T>C (p.Phe236Ser)	NARS2 (F159S +4 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 2663834	NM_024678.6(NARS2):c.1352G>A (p.Arg451His)	NARS2 (R215H +14 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 2431370	NC_000011.10:g.(78476711_78486359)del	NARS2	Deletion	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 2413143	NM_024678.6(NARS2):c.822+6703_959+1726del	NARS2	Deletion (splice acceptor variant +1 more)	Combined oxidative phosphorylation defect type 24	GLikely pathogenic
Select item 2413142	NM_024678.6(NARS2):c.959+1505T>G	NARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 24	GLikely pathogenic
Select item 2413140	NM_024678.6(NARS2):c.595-1G>A	NARS2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 1878667	NM_024678.6(NARS2):c.100C>G (p.Leu34Val)	NARS2 (L34V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 1704210	NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)	NARS2 (C298S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 1691419	NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys)	NARS2 (W203C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 1691418	NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp)	LOC130006506, NARS2 (N154D +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GConflicting classifications of pathogenicity
Select item 1683378	NM_024678.6(NARS2):c.947del (p.Asn316fs)	NARS2 (N316fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1341731	NM_024678.6(NARS2):c.822+6704_959+1727del	NARS2	Deletion (splice acceptor variant +1 more)	Combined oxidative phosphorylation defect type 24	GLikely pathogenic
Select item 1339946	GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1	NARS2	Copy number loss	Hearing loss, autosomal recessive 94 +1 more	Gnot provided
Select item 1297024	NM_024678.6(NARS2):c.1291T>C (p.Tyr431His)	NARS2 (Y204H +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GConflicting classifications of pathogenicity
Select item 1033640	NM_024678.6(NARS2):c.640C>A (p.Pro214Thr)	NARS2 (P214T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1033639	NM_024678.6(NARS2):c.436A>G (p.Arg146Gly)	NARS2 (R146G)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 24 +1 more	GUncertain significance
Select item 1033638	NM_024678.6(NARS2):c.141+5G>C	LOC130006508, NARS2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 1029917	NM_024678.6(NARS2):c.847A>G (p.Thr283Ala)	NARS2 (T283A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1028841	NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer)	NARS2	Insertion (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 24 +1 more	GUncertain significance
Select item 1028840	NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys)	NARS2 (R208C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GUncertain significance
Select item 953071	NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)	NARS2 (Q227R +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GUncertain significance
Select item 872894	NM_024678.6(NARS2):c.545T>A (p.Ile182Lys)	NARS2 (I182K)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 802711	NM_024678.6(NARS2):c.1253G>A (p.Arg418His)	NARS2 (R191H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632580	NM_024678.6(NARS2):c.500A>G (p.His167Arg)	NARS2 (H167R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 632578	NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg)	NARS2 (L395R +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 632577	NM_024678.6(NARS2):c.707T>G (p.Phe236Cys)	NARS2 (F236C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 632573	NM_024678.6(NARS2):c.594+1G>A	NARS2	Single nucleotide variant (splice donor variant)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 632572	NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	LOC130006506, NARS2 (N381S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GLikely pathogenic
Select item 632571	NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	NARS2 (Y323* +1 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 24 +1 more	GPathogenic/Likely pathogenic
Select item 545046	NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)	NARS2 (R51C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 440990	NM_024678.6(NARS2):c.595-6T>G	NARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 427163	NM_024678.6(NARS2):c.749G>A (p.Arg250Gln)	NARS2 (R23Q +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24 +1 more	GConflicting classifications of pathogenicity
Select item 424270	NM_024678.6(NARS2):c.631T>A (p.Phe211Ile)	NARS2 (F211I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 422720	NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	NARS2 (Q56R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 391671	NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)	NARS2 (R140*)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 24 +1 more	GPathogenic
Select item 380001	NM_024678.6(NARS2):c.414T>C (p.Tyr138=)	NARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 380000	NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)	NARS2 (N87T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing loss, autosomal recessive 94 +3 more	GBenign
Select item 183151	NM_024678.6(NARS2):c.641C>T (p.Pro214Leu)	NARS2 (P214L)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 24	GPathogenic
Select item 183150	NM_024678.6(NARS2):c.822G>C (p.Gln274His)	NARS2 (Q274H +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 24	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 41