ClinVar for MedGen (Select 370596) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 206

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678278	NM_020320.5(RARS2):c.333del (p.Lys111fs)	RARS2 (K111fs)	Deletion (non-coding transcript variant +2 more)	Pontocerebellar hypoplasia type 6	GLikely 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 2678276	NM_020320.5(RARS2):c.111-2A>G	RARS2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2678275	NM_020320.5(RARS2):c.1113-2A>G	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6 +1 more	GLikely 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 2678273	NM_020320.5(RARS2):c.1415+1G>A	RARS2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely 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 2678271	NM_020320.5(RARS2):c.535+2T>G	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6	GLikely 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 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 2678268	NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)	RARS2	Duplication (nonsense +1 more)	Pontocerebellar hypoplasia type 6	GPathogenic
Select item 2678267	NM_020320.5(RARS2):c.156dup (p.Asp53fs)	RARS2 (D53fs)	Duplication (5 prime UTR variant +2 more)	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 2678264	NM_020320.5(RARS2):c.36+2T>A	RARS2	Single nucleotide variant (non-coding transcript variant +2 more)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
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 2678262	NM_020320.5(RARS2):c.176_177del (p.Pro59fs)	RARS2 (P59fs)	Deletion (5 prime UTR variant +2 more)	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 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 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 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 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 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 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 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 2678253	NM_020320.5(RARS2):c.53_60del (p.Asn18fs)	RARS2 (N18fs)	Deletion (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678252	NM_020320.5(RARS2):c.297+1G>C	RARS2	Single nucleotide variant (splice donor variant)	Pontoneocerebellar hypoplasia +2 more	GPathogenic/Likely 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 2678249	NM_020320.5(RARS2):c.395+1G>A	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 2678248	NM_020320.5(RARS2):c.297+1G>T	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 2678247	NM_020320.5(RARS2):c.45_46del (p.Arg15fs)	RARS2 (R15fs)	Microsatellite (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 2678246	NM_020320.5(RARS2):c.70_77del (p.Leu24fs)	RARS2 (L24fs)	Deletion (non-coding transcript variant +3 more)	Pontocerebellar hypoplasia type 6 +1 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 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 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 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 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 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 2678238	NM_020320.5(RARS2):c.1306-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	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 2446713	NM_020320.5(RARS2):c.1261C>T (p.Gln421Ter)	RARS2 (Q246* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2446469	NM_020320.5(RARS2):c.122A>G (p.Asp41Gly)	RARS2 (D41G)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 2442235	NM_020320.5(RARS2):c.36+1G>T	RARS2	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 2435374	NM_020320.5(RARS2):c.19C>A (p.Arg7Ser)	RARS2 (R7S)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 2435373	NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly)	RARS2 (S280G +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 2435372	NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu)	RARS2 (S337L +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 2432947	NM_020320.5(RARS2):c.610_612+2del	RARS2	Deletion (splice donor variant)	Pontocerebellar hypoplasia type 6	GLikely 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 2152015	NM_020320.5(RARS2):c.878+5G>T	RARS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely 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 2089230	NM_020320.5(RARS2):c.1512-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1994750	NM_020320.5(RARS2):c.1319T>G (p.Leu440Ter)	RARS2 (L440* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely 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 1806263	NM_020320.5(RARS2):c.25A>G (p.Ile9Val)	RARS2 (I9V)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
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 1686120	NM_020320.5(RARS2):c.422A>G (p.His141Arg)	RARS2 (H141R)	Single nucleotide variant (missense variant +3 more)	Pontocerebellar hypoplasia type 6	GPathogenic
Select item 1686119	NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	RARS2 (Q289* +1 more)	Single nucleotide variant (nonsense +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
Select item 1508806	NM_020320.5(RARS2):c.1415+2T>C	RARS2	Single nucleotide variant (splice donor 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 1484172	NM_020320.5(RARS2):c.772-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely 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 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 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 1362522	NM_020320.5(RARS2):c.716C>G (p.Ser239Ter)	RARS2 (S239* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1358974	NM_020320.5(RARS2):c.277_280del (p.Asn93fs)	RARS2 (N93fs)	Deletion (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic
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 1324994	NM_020320.5(RARS2):c.1533del (p.Lys511fs)	RARS2 (K336fs +1 more)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1324993	NM_020320.5(RARS2):c.1416-2A>C	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 1219260	NM_020320.5(RARS2):c.1413C>G (p.His471Gln)	RARS2 (H296Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1207880	NM_020320.5(RARS2):c.1108G>C (p.Glu370Gln)	RARS2 (E195Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1201952	NM_020320.5(RARS2):c.28G>A (p.Ala10Thr)	RARS2 (A10T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1185213	NM_020320.5(RARS2):c.111-21C>T	RARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185212	NM_020320.5(RARS2):c.451+140G>A	RARS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184397	NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter)	RARS2 (K263* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1087732	NM_020320.5(RARS2):c.885A>G (p.Gly295=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1076286	NM_020320.5(RARS2):c.928dup (p.Ile310fs)	RARS2 (I135fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1075781	NM_020320.5(RARS2):c.9C>A (p.Cys3Ter)	RARS2 (C3*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1074408	NM_020320.5(RARS2):c.284_285del (p.Glu95fs)	RARS2 (E95fs)	Microsatellite (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1069762	NM_020320.5(RARS2):c.282_285del (p.Arg94fs)	RARS2 (R94fs)	Microsatellite (frameshift variant +2 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 1066551	NM_020320.5(RARS2):c.613-3927C>T	RARS2	Single nucleotide variant (intron variant)	Pontoneocerebellar hypoplasia +2 more	GPathogenic/Likely 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
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 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 1030701	NM_020320.5(RARS2):c.536-5G>A	RARS2	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
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 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 1027513	NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)	RARS2 (D173N)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 1027512	NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile)	RARS2 (T171I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 992187	NM_020320.5(RARS2):c.1675G>A (p.Val559Ile)	RARS2 (V384I +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 990090	NM_020320.5(RARS2):c.110A>G (p.Glu37Gly)	RARS2 (E37G)	Single nucleotide variant (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 990089	NM_020320.5(RARS2):c.262G>A (p.Val88Ile)	RARS2 (V88I)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 990088	NM_020320.5(RARS2):c.637G>A (p.Ala213Thr)	RARS2 (A213T +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 990087	NM_020320.5(RARS2):c.709G>A (p.Ala237Thr)	RARS2 (A237T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 977286	NM_020320.5(RARS2):c.29C>T (p.Ala10Val)	RARS2 (A10V)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 976780	NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg)	RARS2 (G457R +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 974848	NM_020320.5(RARS2):c.1A>T (p.Met1Leu)	RARS2 (M1L)	Single nucleotide variant (5 prime UTR variant +3 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 950760	NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer)	RARS2	Deletion (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6 +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 3