"Baylor Genetics"[submitter] AND "RARS2"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 132

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215071	NM_020320.5(RARS2):c.1679G>A (p.Arg560His)	RARS2 (R560H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3240275	NM_020320.5(RARS2):c.1651-2A>G	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GPathogenic
Select item 632595	NM_020320.5(RARS2):c.1650+5G>A	RARS2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2678254	NM_020320.5(RARS2):c.1650+1G>T	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 215054	NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)	RARS2 (P546L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1343696	NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs)	RARS2 (D368fs +1 more)	Deletion (frameshift variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GLikely pathogenic
Select item 2678240	NM_020320.5(RARS2):c.1629_1630del (p.Asp543fs)	RARS2 (D368fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 522857	NM_020320.5(RARS2):c.1612del (p.Thr538fs)	RARS2 (T363fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678260	NM_020320.5(RARS2):c.1583dup (p.Leu528fs)	RARS2 (L353fs +1 more)	Duplication (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 215076	NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)	RARS2 (L528fs +1 more)	Duplication (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +2 more	GPathogenic/Likely pathogenic
Select item 2678272	NM_020320.5(RARS2):c.1568_1569delinsC (p.Ser523fs)	RARS2 (S348fs +1 more)	Indel (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 869402	NM_020320.5(RARS2):c.1564G>A (p.Val522Ile)	RARS2 (V347I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1032075	NM_020320.5(RARS2):c.1554del (p.Arg519fs)	RARS2 (R344fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2678257	NM_020320.5(RARS2):c.1549C>T (p.Gln517Ter)	RARS2 (Q342* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 488585	NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)	RARS2 (D515G +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 3240278	NM_020320.5(RARS2):c.1522del (p.Val508fs)	RARS2 (V333fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2089230	NM_020320.5(RARS2):c.1512-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 942485	NM_020320.5(RARS2):c.1480_1481del (p.Gln494fs)	RARS2 (Q319fs +1 more)	Microsatellite (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2678242	NM_020320.5(RARS2):c.1471C>T (p.Gln491Ter)	RARS2 (Q316* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 652213	NM_020320.5(RARS2):c.1430_1431del (p.Phe477fs)	RARS2 (F302fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2678277	NM_020320.5(RARS2):c.1425_1426del (p.Glu475fs)	RARS2 (E300fs +1 more)	Microsatellite (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 280430	NM_020320.5(RARS2):c.1423G>T (p.Glu475Ter)	RARS2 (E475* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240274	NM_020320.5(RARS2):c.1416-1G>C	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1508806	NM_020320.5(RARS2):c.1415+2T>C	RARS2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2678273	NM_020320.5(RARS2):c.1415+1G>A	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 618855	NM_020320.5(RARS2):c.1406G>A (p.Arg469His)	RARS2 (R469H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1686119	NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	RARS2 (Q289* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2127573	NM_020320.5(RARS2):c.1381_1385del (p.Val461fs)	RARS2 (V286fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 421326	NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs)	RARS2 (F272fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678259	NM_020320.5(RARS2):c.1357_1358del (p.Phe453fs)	RARS2 (F278fs +1 more)	Deletion (non-coding transcript variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 402195	NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	RARS2 (S443P +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +5 more	GConflicting classifications of pathogenicity
Select item 1994750	NM_020320.5(RARS2):c.1319T>G (p.Leu440Ter)	RARS2 (L440* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2678270	NM_020320.5(RARS2):c.1315_1318del (p.Gly439fs)	RARS2 (G264fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678238	NM_020320.5(RARS2):c.1306-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678261	NM_020320.5(RARS2):c.1305+2T>C	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1030699	NM_020320.5(RARS2):c.1297ATT[1] (p.Ile434del)	RARS2 (I259del +1 more)	Microsatellite (inframe_deletion +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 1349935	NM_020320.5(RARS2):c.1238-2A>G	RARS2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1801008	NM_020320.5(RARS2):c.1237+1G>C	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 3240284	NM_020320.5(RARS2):c.1226_1233del (p.Ala409fs)	RARS2 (A234fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678243	NM_020320.5(RARS2):c.1210A>G (p.Met404Val)	RARS2 (M229V +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 1032074	NM_020320.5(RARS2):c.1168G>A (p.Val390Ile)	RARS2 (V215I +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 653657	NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter)	RARS2 (R386* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2678275	NM_020320.5(RARS2):c.1113-2A>G	RARS2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1927515	NM_020320.5(RARS2):c.1097_1098del (p.Gly365_Tyr366insTer)	RARS2	Microsatellite (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240285	NM_020320.5(RARS2):c.1093G>T (p.Gly365Ter)	RARS2 (G190* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1970672	NM_020320.5(RARS2):c.1055dup (p.His353fs)	RARS2 (H178fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2678269	NM_020320.5(RARS2):c.1035+2T>G	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 215064	NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	RARS2 (M342I +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +2 more	GConflicting classifications of pathogenicity
Select item 2678244	NM_020320.5(RARS2):c.998del (p.Arg333fs)	RARS2 (R158fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1434193	NM_020320.5(RARS2):c.997C>T (p.Arg333Ter)	RARS2 (R158* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1953482	NM_020320.5(RARS2):c.965_966del (p.Tyr322fs)	RARS2 (Y147fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2199200	NM_020320.5(RARS2):c.965A>G (p.Tyr322Cys)	RARS2 (Y147C +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 641283	NM_020320.5(RARS2):c.963_964del (p.Tyr322fs)	RARS2 (Y322fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 215061	NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)	RARS2 (R315* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1076286	NM_020320.5(RARS2):c.928dup (p.Ile310fs)	RARS2 (I135fs +1 more)	Duplication (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 215075	NM_020320.5(RARS2):c.898dup (p.Asp300fs)	RARS2 (D300fs +1 more)	Duplication (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 1067780	NM_020320.5(RARS2):c.879-1G>C	RARS2	Single nucleotide variant (non-coding transcript variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2152015	NM_020320.5(RARS2):c.878+5G>T	RARS2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 632596	NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)	RARS2 (L283Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2678268	NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)	RARS2	Duplication (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GPathogenic
Select item 858420	NM_020320.5(RARS2):c.839T>G (p.Leu280Ter)	RARS2 (L280* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1963453	NM_020320.5(RARS2):c.830_831del (p.Gln277fs)	RARS2 (Q102fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2420230	NM_020320.5(RARS2):c.829C>T (p.Gln277Ter)	RARS2 (Q102* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678274	NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)	RARS2 (Y266* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678258	NM_020320.5(RARS2):c.795del (p.Glu265fs)	RARS2 (E265fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GPathogenic
Select item 215080	NM_020320.5(RARS2):c.773G>A (p.Arg258His)	RARS2 (R258H +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 1484172	NM_020320.5(RARS2):c.772-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 1505617	NM_020320.5(RARS2):c.771+2T>G	RARS2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2814297	NM_020320.5(RARS2):c.757_760dup (p.Arg254fs)	RARS2 (R254fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240281	NM_020320.5(RARS2):c.740T>A (p.Leu247Ter)	RARS2 (L247* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678251	NM_020320.5(RARS2):c.723G>A (p.Trp241Ter)	RARS2 (W241* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1362522	NM_020320.5(RARS2):c.716C>G (p.Ser239Ter)	RARS2 (S239* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 1406532	NM_020320.5(RARS2):c.699_700insACATC (p.Asp234fs)	RARS2 (D234fs +1 more)	Insertion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 620219	NM_020320.5(RARS2):c.685C>T (p.Arg229Ter)	RARS2 (R229* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 951758	NM_020320.5(RARS2):c.633_636del (p.Glu212fs)	RARS2 (E212fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6 +2 more	GPathogenic/Likely pathogenic
Select item 1451754	NM_020320.5(RARS2):c.622C>T (p.Gln208Ter)	RARS2 (Q33* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic
Select item 2678263	NM_020320.5(RARS2):c.617del (p.Tyr206fs)	RARS2 (Y206fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 3240280	NM_020320.5(RARS2):c.613-2A>C	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1066551	NM_020320.5(RARS2):c.613-3927C>T	RARS2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 6 +2 more	GPathogenic/Likely pathogenic
Select item 3237542	NM_020320.5(RARS2):c.612+2T>G	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678265	NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)	RARS2 (Q200* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2572336	NM_020320.5(RARS2):c.536-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1030701	NM_020320.5(RARS2):c.536-5G>A	RARS2	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2678271	NM_020320.5(RARS2):c.535+2T>G	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 3240277	NM_020320.5(RARS2):c.529C>T (p.Gln177Ter)	RARS2 (Q177* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1027513	NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)	RARS2 (D173N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030700	NM_020320.5(RARS2):c.488A>G (p.His163Arg)	RARS2 (H163R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 840886	NM_020320.5(RARS2):c.474_477del (p.Glu159fs)	RARS2 (E159fs)	Deletion (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240282	NM_020320.5(RARS2):c.475G>T (p.Glu159Ter)	RARS2 (E159*)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 215072	NM_020320.5(RARS2):c.472_474del (p.Lys158del)	RARS2 (K158del)	Deletion (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2678245	NM_020320.5(RARS2):c.452-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 3240286	NM_020320.5(RARS2):c.451+1G>A	RARS2	Single nucleotide variant (splice donor variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 358237	NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)	RARS2 (T148A)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2678239	NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)	RARS2 (R146fs)	Indel (frameshift variant +3 more)	Pontoneocerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
Select item 215055	NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	RARS2 (F140C)	Single nucleotide variant (missense variant +3 more)	Pontocerebellar hypoplasia type 6 +3 more	GPathogenic/Likely pathogenic
Select item 2678249	NM_020320.5(RARS2):c.395+1G>A	RARS2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2678255	NM_020320.5(RARS2):c.379_385del (p.Ile127fs)	RARS2 (I127fs)	Deletion (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 3240287	NM_020320.5(RARS2):c.348_349del (p.Ser116fs)	RARS2 (S116fs)	Deletion (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678256	NM_020320.5(RARS2):c.347_348delinsCTTATTAA (p.Ser116delinsThrTyrTer)	RARS2	Indel (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1032076	NM_020320.5(RARS2):c.340T>C (p.Leu114=)	RARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GUncertain significance

<< First< Prev

Page of 2