QARS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155443	GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4	ARIH2, CCDC71 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1937450	NM_005051.3(QARS1):c.2325G>A (p.Val775=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1488799	NM_005051.3(QARS1):c.2320A>G (p.Lys774Glu)	QARS1 (K763E +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 950132	NM_005051.3(QARS1):c.2317G>A (p.Gly773Arg)	QARS1 (G762R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1947842	NM_005051.3(QARS1):c.2313C>T (p.Asp771=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2105334	NM_005051.3(QARS1):c.2312A>C (p.Asp771Ala)	QARS1 (D771A +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 572730	NM_005051.3(QARS1):c.2311G>A (p.Asp771Asn)	QARS1 (D771N +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 506822	NM_005051.3(QARS1):c.2304G>A (p.Leu768=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1345319	NM_005051.3(QARS1):c.2293del (p.Thr765fs)	QARS1 (T754fs +1 more)	Deletion (frameshift variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GUncertain significance
Select item 1057007	NM_005051.3(QARS1):c.2291G>A (p.Arg764Gln)	QARS1 (R753Q +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1002999	NM_005051.3(QARS1):c.2290C>T (p.Arg764Ter)	QARS1 (R753* +1 more)	Single nucleotide variant (nonsense +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2700483	NM_005051.3(QARS1):c.2278-4C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2989676	NM_005051.3(QARS1):c.2278-13C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1532106	NM_005051.3(QARS1):c.2278-21_2278-19dup	QARS1	Duplication (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1193060	NM_005051.3(QARS1):c.2278-40G>A	QARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2058693	NM_005051.3(QARS1):c.2277+18C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2023486	NM_005051.3(QARS1):c.2277+16_2277+17delinsAC	QARS1	Indel (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1605080	NM_005051.3(QARS1):c.2277+9C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1038591	NM_005051.3(QARS1):c.2277+3G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1489895	NM_005051.3(QARS1):c.2277+1G>C	QARS1	Single nucleotide variant (splice donor variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2421412	NM_005051.3(QARS1):c.2277G>T (p.Lys759Asn)	QARS1 (K748N +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1352126	NM_005051.3(QARS1):c.2270A>G (p.Gln757Arg)	QARS1 (Q757R +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1519169	NM_005051.3(QARS1):c.2265C>G (p.Ser755Arg)	QARS1 (S755R +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 544147	NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly)	QARS1 (D754G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 719193	NM_005051.3(QARS1):c.2253G>T (p.Val751=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 863168	NM_005051.3(QARS1):c.2251G>A (p.Val751Met)	QARS1 (V751M +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1095921	NM_005051.3(QARS1):c.2250C>T (p.Ser750=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 477840	NM_005051.3(QARS1):c.2250C>A (p.Ser750=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1062927	NM_005051.3(QARS1):c.2249C>T (p.Ser750Phe)	QARS1 (S739F +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2912105	NM_005051.3(QARS1):c.2238T>C (p.Leu746=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 477839	NM_005051.3(QARS1):c.2238T>G (p.Leu746=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1312521	NM_005051.3(QARS1):c.2234G>A (p.Arg745His)	QARS1 (R734H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1392477	NM_005051.3(QARS1):c.2233C>T (p.Arg745Cys)	QARS1 (R745C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1351713	NM_005051.3(QARS1):c.2226G>T (p.Gln742His)	QARS1 (Q731H +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1446396	NM_005051.3(QARS1):c.2223C>G (p.Phe741Leu)	QARS1 (F730L +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2103505	NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn)	QARS1 (K740N +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1135299	NM_005051.3(QARS1):c.2220G>A (p.Lys740=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 544140	NM_005051.3(QARS1):c.2218A>C (p.Lys740Gln)	QARS1 (K740Q +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 857235	NM_005051.3(QARS1):c.2215G>A (p.Asp739Asn)	QARS1 (D739N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 566720	NM_005051.3(QARS1):c.2215G>T (p.Asp739Tyr)	QARS1 (D739Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 836882	NM_005051.3(QARS1):c.2210C>A (p.Pro737His)	QARS1 (P726H +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 409238	NM_005051.3(QARS1):c.2210C>T (p.Pro737Leu)	QARS1 (P737L +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +2 more	GUncertain significance
Select item 1025556	NM_005051.3(QARS1):c.2209C>A (p.Pro737Thr)	QARS1 (P726T +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 409242	NM_005051.3(QARS1):c.2195T>C (p.Val732Ala)	QARS1 (V732A +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1135390	NM_005051.3(QARS1):c.2193T>C (p.Ser731=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 809485	NM_005051.3(QARS1):c.2193T>A (p.Ser731=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 765008	NM_005051.3(QARS1):c.2184G>C (p.Val728=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 544139	NM_005051.3(QARS1):c.2174C>T (p.Ala725Val)	QARS1 (A725V +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 945621	NM_005051.3(QARS1):c.2173G>C (p.Ala725Pro)	QARS1 (A714P +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 385416	NM_005051.3(QARS1):c.2172T>C (p.Asp724=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GLikely benign
Select item 849429	NM_005051.3(QARS1):c.2170G>C (p.Asp724His)	QARS1 (D724H +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2001227	NM_005051.3(QARS1):c.2167G>C (p.Val723Leu)	QARS1 (V712L +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1538027	NM_005051.3(QARS1):c.2166G>T (p.Val722=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 567034	NM_005051.3(QARS1):c.2164G>A (p.Val722Met)	QARS1 (V722M +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1589366	NM_005051.3(QARS1):c.2163C>T (p.His721=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2159880	NM_005051.3(QARS1):c.2154A>G (p.Ala718=)	QARS1	Single nucleotide variant (non-coding transcript variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 857563	NM_005051.3(QARS1):c.2153C>T (p.Ala718Val)	QARS1 (A718V +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 864179	NM_005051.3(QARS1):c.2152G>C (p.Ala718Pro)	QARS1 (A718P +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1156329	NM_005051.3(QARS1):c.2152-7C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 391754	NM_005051.3(QARS1):c.2152-9T>C	QARS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1666435	NM_005051.3(QARS1):c.2152-10C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 385621	NM_005051.3(QARS1):c.2152-11C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GBenign/Likely benign
Select item 1546145	NM_005051.3(QARS1):c.2152-12C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1539671	NM_005051.3(QARS1):c.2152-19del	QARS1	Deletion (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1568393	NM_005051.3(QARS1):c.2152-20C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1938625	NM_005051.3(QARS1):c.2151+17_2151+18del	QARS1	Deletion (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1593794	NM_005051.3(QARS1):c.2151+13G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 513140	NM_005051.3(QARS1):c.2151+13G>C	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GLikely benign
Select item 2146272	NM_005051.3(QARS1):c.2151+12A>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 388111	NM_005051.3(QARS1):c.2151+11G>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome +1 more	GLikely benign
Select item 1964938	NM_005051.3(QARS1):c.2151+8C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1040050	NM_005051.3(QARS1):c.2149C>G (p.Leu717Val)	QARS1 (L717V +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2708225	NM_005051.3(QARS1):c.2143C>T (p.Leu715=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1993326	NM_005051.3(QARS1):c.2142C>A (p.Asp714Glu)	QARS1 (D703E +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2038863	NM_005051.3(QARS1):c.2136A>G (p.Leu712=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2120884	NM_005051.3(QARS1):c.2130A>C (p.Gly710=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 477838	NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu)	QARS1 (P708L +1 more)	Single nucleotide variant (missense variant +1 more)	QARS1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1407421	NM_005051.3(QARS1):c.2122C>G (p.Pro708Ala)	QARS1 (P697A +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2119953	NM_005051.3(QARS1):c.2116G>A (p.Glu706Lys)	QARS1 (E695K +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1996732	NM_005051.3(QARS1):c.2114C>A (p.Thr705Asn)	QARS1 (T705N +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1021314	NM_005051.3(QARS1):c.2110C>G (p.Pro704Ala)	QARS1 (P693A +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1396517	NM_005051.3(QARS1):c.2104G>A (p.Glu702Lys)	QARS1 (E702K +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2129316	NM_005051.3(QARS1):c.2103T>C (p.Pro701=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2810968	NM_005051.3(QARS1):c.2100C>T (p.Asn700=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1152081	NM_005051.3(QARS1):c.2097G>A (p.Lys699=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 956112	NM_005051.3(QARS1):c.2093A>C (p.His698Pro)	QARS1 (H698P +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2116318	NM_005051.3(QARS1):c.2092C>T (p.His698Tyr)	QARS1 (H687Y +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 798905	NM_005051.3(QARS1):c.2091G>A (p.Gln697=)	QARS1	Single nucleotide variant (synonymous variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2129662	NM_005051.3(QARS1):c.2087T>G (p.Phe696Cys)	QARS1 (F696C +1 more)	Single nucleotide variant (missense variant +1 more)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1951954	NM_005051.3(QARS1):c.2085-2A>G	QARS1	Single nucleotide variant (splice acceptor variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely pathogenic
Select item 634571	NM_005051.3(QARS1):c.2085-3C>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely pathogenic
Select item 544137	NM_005051.3(QARS1):c.2085-3C>T	QARS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2727579	NM_005051.3(QARS1):c.2085-4G>A	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 2128398	NM_005051.3(QARS1):c.2085-6C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1385220	NM_005051.3(QARS1):c.2085-12C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1595634	NM_005051.3(QARS1):c.2085-13A>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1645316	NM_005051.3(QARS1):c.2085-14C>G	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 3017956	NM_005051.3(QARS1):c.2085-17C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign
Select item 1634595	NM_005051.3(QARS1):c.2085-18C>T	QARS1	Single nucleotide variant (intron variant)	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GLikely benign

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