C4040739[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1187183	NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)	SERAC1 (R645C)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign
Select item 420150	NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG	SERAC1	Indel (splice donor variant)	SERAC1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 378571	NM_032861.4(SERAC1):c.1828+10C>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GLikely benign
Select item 791706	NM_032861.4(SERAC1):c.1659G>A (p.Ser553=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign
Select item 858150	NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)	SERAC1 (T513M)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GUncertain significance
Select item 508979	NM_032861.4(SERAC1):c.1502-24dup	SERAC1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 857193	NM_032861.4(SERAC1):c.1404-3C>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +2 more	GUncertain significance
Select item 139098	NM_032861.4(SERAC1):c.1403+12G>A	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign
Select item 507937	NM_032861.4(SERAC1):c.1403+11C>T	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GLikely benign
Select item 378570	NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)	SERAC1 (M466L)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign
Select item 510068	NM_032861.4(SERAC1):c.1309-18_1309-17del	SERAC1	Microsatellite (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign
Select item 388737	NM_032861.4(SERAC1):c.1308+7G>A	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GLikely benign
Select item 139097	NM_032861.4(SERAC1):c.1293G>A (p.Thr431=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 864744	NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)	SERAC1 (T431M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1301425	NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)	SERAC1 (I420T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 445812	NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)	SERAC1 (R387*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 379679	NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 511814	NM_032861.4(SERAC1):c.1152C>G (p.Pro384=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +2 more	GBenign/Likely benign
Select item 379678	NM_032861.4(SERAC1):c.1137A>G (p.Val379=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 379677	NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 215142	NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)	SERAC1 (Q376*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 139096	NM_032861.4(SERAC1):c.1016-11C>T	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign
Select item 419584	NM_032861.4(SERAC1):c.1016-31_1016-17del	SERAC1	Deletion (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign
Select item 387771	NM_032861.4(SERAC1):c.999T>C (p.Ser333=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 379604	NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln)	SERAC1 (R306Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 869397	NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)	SERAC1 (R306*)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GPathogenic
Select item 139095	NM_032861.4(SERAC1):c.739-10T>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign
Select item 593132	NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)	SERAC1 (E225G)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +2 more	GUncertain significance
Select item 35556	NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	SERAC1 (R148*)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GPathogenic
Select item 516308	NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)	SERAC1 (T147M)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +2 more	GBenign/Likely benign
Select item 689786	NM_032861.4(SERAC1):c.438del (p.Thr147fs)	SERAC1 (T147fs)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 215140	NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)	SERAC1 (R138Q)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GUncertain significance
Select item 215150	NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)	SERAC1 (C131R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 139094	NM_032861.4(SERAC1):c.355+11A>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign
Select item 1263295	NM_032861.4(SERAC1):c.266-11A>G	SERAC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 671740	NM_032861.4(SERAC1):c.266-48dup	SERAC1	Duplication (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign
Select item 139093	NM_032861.4(SERAC1):c.249C>T (p.Asp83=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 871033	NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)	SERAC1 (R68Q)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GUncertain significance
Select item 139092	NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile)	SERAC1 (F47I)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign
Select item 671614	NM_032861.4(SERAC1):c.129-34C>G	SERAC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 723166	NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)	SERAC1 (I34del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 139091	NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)	SERAC1 (I30T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 215149	NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu)	SERAC1 (P21L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign

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Items: 43