Related gene-specific medical variations for Gene (Select 57038) - ClinVar

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

Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246234	NC_000006.11:g.(?_88236440)_(88239351_?)del	RARS2	Deletion	not provided	GPathogenic
Select item 3246231	NC_000006.11:g.(?_88251616)_(88255437_?)del	RARS2	Deletion	not provided	GPathogenic
Select item 3246230	NC_000006.11:g.(?_88224131)_(88234390_?)del	RARS2	Deletion	not provided	GPathogenic
Select item 3246229	NC_000006.11:g.(?_88244587)_(88299675_?)del	RARS2	Deletion	not provided	GPathogenic
Select item 3246228	NC_000006.11:g.(?_88258289)_(88299675_?)del	RARS2	Deletion	not provided	GPathogenic
Select item 3246227	NC_000006.11:g.(?_88272410)_(88299760_?)del	RARS2	Deletion	not provided	GPathogenic
Select item 3246226	NC_000006.11:g.(?_88251616)_(88251732_?)del	RARS2	Deletion	not provided	GPathogenic
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 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 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 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 3240283	NM_020320.5(RARS2):c.71T>A (p.Leu24Ter)	RARS2 (L24*)	Single nucleotide variant (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6	GLikely 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 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 3240280	NM_020320.5(RARS2):c.613-2A>C	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 3240279	NM_020320.5(RARS2):c.298-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GPathogenic
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 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 3240276	NM_020320.5(RARS2):c.122_129delinsT (p.Asp41fs)	RARS2 (D41fs)	Indel (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
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 3240274	NM_020320.5(RARS2):c.1416-1G>C	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
Select item 3240273	NM_020320.5(RARS2):c.59del (p.Pro20fs)	RARS2 (P20fs)	Deletion (5 prime UTR variant +3 more)	Pontocerebellar hypoplasia type 6	GLikely 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 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 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 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 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 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 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 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 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 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 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 2678238	NM_020320.5(RARS2):c.1306-1G>A	RARS2	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 6	GLikely pathogenic
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 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 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 1319705	NM_020320.5(RARS2):c.9C>G (p.Cys3Trp)	RARS2 (C3W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 931994	NM_020320.5(RARS2):c.1305+1G>A	RARS2	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 6	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 Gene

Items: 62