ClinVar for Gene (Select 57038) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253571	NM_020320.5(RARS2):c.733C>T (p.Arg245Trp)	RARS2 (R245W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251822	NM_020320.5(RARS2):c.1157G>A (p.Arg386Gln)	RARS2 (R211Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3242033	NM_020320.5(RARS2):c.1152G>T (p.Lys384Asn)	RARS2 (K209N +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
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 3237484	NM_020320.5(RARS2):c.124T>A (p.Phe42Ile)	RARS2 (F42I)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 6	GUncertain significance
Select item 3063630	NM_020320.5(RARS2):c.878+3A>G	RARS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062883	GRCh37/hg19 6q15(chr6:88039867-88305895)x1	C6orf163, CFAP206 +4 more	Copy number loss	not specified	GPathogenic
Select item 3043976	NM_020320.5(RARS2):c.100_101dup	RARS2	Duplication (3 prime UTR variant +2 more)	RARS2-related disorder	GLikely benign
Select item 3024956	NM_020320.5(RARS2):c.1586+873C>G	RARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3022474	NM_020320.5(RARS2):c.879-11C>T	RARS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3021384	NM_020320.5(RARS2):c.612+11A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018899	NM_020320.5(RARS2):c.37-15_37-14del	RARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 3017450	NM_020320.5(RARS2):c.451+19A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016809	NM_020320.5(RARS2):c.771+11A>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016501	NM_020320.5(RARS2):c.1113-21A>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3015933	NM_020320.5(RARS2):c.1512-15C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015726	NM_020320.5(RARS2):c.1128C>G (p.Pro376=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014622	NM_020320.5(RARS2):c.1306-11T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013959	NM_020320.5(RARS2):c.1650+13G>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013946	NM_020320.5(RARS2):c.12C>T (p.Gly4=)	RARS2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3013265	NM_020320.5(RARS2):c.36+11C>T	RARS2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3012420	NM_020320.5(RARS2):c.583C>T (p.Gln195Ter)	RARS2 (Q195* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3011438	NM_020320.5(RARS2):c.1415+16A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011136	NM_020320.5(RARS2):c.452-19A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009735	NM_020320.5(RARS2):c.214-15A>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007124	NM_020320.5(RARS2):c.1512-13T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005549	NM_020320.5(RARS2):c.660A>G (p.Ala220=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004258	NM_020320.5(RARS2):c.214-14T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999846	NM_020320.5(RARS2):c.536-12T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999624	NM_020320.5(RARS2):c.699C>T (p.Gly233=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998519	NM_020320.5(RARS2):c.127C>T (p.Gln43Ter)	RARS2 (Q43*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2997903	NM_020320.5(RARS2):c.865C>T (p.Leu289=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996228	NM_020320.5(RARS2):c.536-19T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995209	NM_020320.5(RARS2):c.771+14C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994987	NM_020320.5(RARS2):c.159C>T (p.Asp53=)	RARS2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2994556	NM_020320.5(RARS2):c.213+19C>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989791	NM_020320.5(RARS2):c.788_789dup (p.Asp264fs)	RARS2 (D264fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2989266	NM_020320.5(RARS2):c.149T>C (p.Leu50Ser)	RARS2 (L50S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2987088	NM_020320.5(RARS2):c.1035+16A>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985231	NM_020320.5(RARS2):c.1586+16C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983955	NM_020320.5(RARS2):c.878+17A>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983240	NM_020320.5(RARS2):c.1113-19T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982480	NM_020320.5(RARS2):c.1138G>A (p.Val380Ile)	RARS2 (V205I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2981908	NM_020320.5(RARS2):c.702T>C (p.Asp234=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979408	NM_020320.5(RARS2):c.1586+11dup	RARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 2979065	NM_020320.5(RARS2):c.1415+20A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978651	NM_020320.5(RARS2):c.771+11A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978493	NM_020320.5(RARS2):c.36+17G>C	RARS2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2977702	NM_020320.5(RARS2):c.36+15G>A	RARS2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2977324	NM_020320.5(RARS2):c.804A>C (p.Gly268=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976680	NM_020320.5(RARS2):c.395+11A>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973719	NM_020320.5(RARS2):c.1651-12T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972447	NM_020320.5(RARS2):c.110+19del	RARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2972193	NM_020320.5(RARS2):c.111-14A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969280	NM_020320.5(RARS2):c.1238-17G>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969045	NM_020320.5(RARS2):c.772-4T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967707	NM_020320.5(RARS2):c.395+13C>A	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965491	NM_020320.5(RARS2):c.1512-14del	RARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2960395	NM_020320.5(RARS2):c.36+17_36+39del	RARS2	Deletion (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2957172	NM_020320.5(RARS2):c.879-17C>A	RARS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2956683	NM_020320.5(RARS2):c.772-20T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956678	NM_020320.5(RARS2):c.1587-20T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956515	NM_020320.5(RARS2):c.1237+19T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919852	NM_020320.5(RARS2):c.975-13C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919180	NM_020320.5(RARS2):c.536-8C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918953	NM_020320.5(RARS2):c.772-11A>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917347	NM_020320.5(RARS2):c.1035+11A>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915420	NM_020320.5(RARS2):c.34C>T (p.Gln12Ter)	RARS2 (Q12*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2914628	NM_020320.5(RARS2):c.213+19C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914126	NM_020320.5(RARS2):c.684A>G (p.Gln228=)	RARS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2913189	NM_020320.5(RARS2):c.1036-14A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912121	NM_020320.5(RARS2):c.1305+19C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910954	NM_020320.5(RARS2):c.297+15A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909190	NM_020320.5(RARS2):c.974+18G>A	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908970	NM_020320.5(RARS2):c.36+20C>T	RARS2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2907361	NM_020320.5(RARS2):c.1036-18A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906480	NM_020320.5(RARS2):c.1512-19T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905641	NM_020320.5(RARS2):c.451+12G>A	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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