RARS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 152415	GRCh38/hg38 6q14.3-15(chr6:87050381-87535518)x1	C6orf163, CFAP206 +16 more	Copy number loss	See cases	GUncertain significance
Select item 95394	NM_006416.5(SLC35A1):c.887-14T>C	RARS2, SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation +4 more	GBenign/Likely benign
Select item 369569	NM_006416.5(SLC35A1):c.*147C>T	RARS2, SLC35A1	Single nucleotide variant (3 prime UTR variant)	Pontoneocerebellar hypoplasia +1 more	GLikely benign
Select item 358219	NM_006416.5(SLC35A1):c.*240G>T	RARS2, SLC35A1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358220	NM_006416.5(SLC35A1):c.*294dup	RARS2, SLC35A1	Duplication (3 prime UTR variant)	Pontoneocerebellar hypoplasia +1 more	GLikely benign
Select item 358221	NM_006416.5(SLC35A1):c.*302A>G	RARS2, SLC35A1	Single nucleotide variant (3 prime UTR variant)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 358225	NM_006416.5(SLC35A1):c.521_522insAATG	RARS2, SLC35A1	Insertion (3 prime UTR variant)	Pontoneocerebellar hypoplasia +1 more	GBenign
Select item 358228	NM_006416.5(SLC35A1):c.*648T>G	RARS2, SLC35A1	Single nucleotide variant (3 prime UTR variant)	Pontoneocerebellar hypoplasia +1 more	GBenign
Select item 1260098	NM_020320.5(RARS2):c.*241C>T	RARS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1294199	NM_020320.5(RARS2):c.*115G>A	RARS2 (R403H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
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 1221069	NM_020320.5(RARS2):c.*101dup	RARS2	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1291574	NM_020320.5(RARS2):c.*101del	RARS2	Deletion (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1196311	NM_020320.5(RARS2):c.*55G>T	RARS2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 800091	NM_020320.5(RARS2):c.1736A>G (p.Ter579=)	RARS2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2272835	NM_020320.5(RARS2):c.1733T>C (p.Met578Thr)	RARS2 (M403T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 215077	NM_020320.5(RARS2):c.1724dup (p.Cys576fs)	RARS2 (C576fs +1 more)	Duplication (frameshift variant +2 more)	not specified	GUncertain significance
Select item 1997671	NM_020320.5(RARS2):c.1722T>A (p.Pro574=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1339743	NM_020320.5(RARS2):c.1718C>T (p.Thr573Ile)	RARS2 (T398I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2118630	NM_020320.5(RARS2):c.1713A>C (p.Gly571=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 521519	NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe)	RARS2 (L570F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 130095	NM_020320.5(RARS2):c.1704A>G (p.Lys568=)	RARS2, SLC35A1	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 6 +3 more	GBenign/Likely benign
Select item 747991	NM_020320.5(RARS2):c.1692C>G (p.Ala564=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880435	NM_020320.5(RARS2):c.1686C>T (p.Val562=)	RARS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2136149	NM_020320.5(RARS2):c.1679G>T (p.Arg560Leu)	RARS2 (R560L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 766634	NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys)	RARS2 (R385C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1079161	NM_020320.5(RARS2):c.1677C>T (p.Val559=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1549840	NM_020320.5(RARS2):c.1674T>C (p.Ala558=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1327908	NM_020320.5(RARS2):c.1654A>G (p.Arg552Gly)	RARS2 (R377G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1124668	NM_020320.5(RARS2):c.1651-8T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508201	NM_020320.5(RARS2):c.1651-14_1651-10del	RARS2	Deletion (intron variant)	not provided +1 more	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 1309147	NM_020320.5(RARS2):c.1651-12T>G	RARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1631457	NM_020320.5(RARS2):c.1651-16T>A	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843490	NM_020320.5(RARS2):c.1651-19T>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178684	NM_020320.5(RARS2):c.1651-31A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214048	NM_020320.5(RARS2):c.1651-87G>A	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246310	NM_020320.5(RARS2):c.1650+208C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248969	NM_020320.5(RARS2):c.1650+180A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3013959	NM_020320.5(RARS2):c.1650+13G>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871997	NM_020320.5(RARS2):c.1650+9T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748671	NM_020320.5(RARS2):c.1650+8A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092924	NM_020320.5(RARS2):c.1650+8A>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2154714	NM_020320.5(RARS2):c.1650+4C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2847348	NM_020320.5(RARS2):c.1650+1del	RARS2	Deletion (splice donor variant)	not provided	GPathogenic
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 1569957	NM_020320.5(RARS2):c.1642G>T (p.Val548Leu)	RARS2 (V373L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 215054	NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)	RARS2 (P546L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 797064	NM_020320.5(RARS2):c.1635T>A (p.Pro545=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1091149	NM_020320.5(RARS2):c.1629T>C (p.Asp543=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2165485	NM_020320.5(RARS2):c.1621A>G (p.Ile541Val)	RARS2 (I366V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1087609	NM_020320.5(RARS2):c.1617A>G (p.Leu539=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1392465	NM_020320.5(RARS2):c.1616T>A (p.Leu539Gln)	RARS2 (L539Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384784	NM_020320.5(RARS2):c.1616T>C (p.Leu539Pro)	RARS2 (L539P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1607139	NM_020320.5(RARS2):c.1615C>T (p.Leu539=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1108621	NM_020320.5(RARS2):c.1602G>A (p.Val534=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1158012	NM_020320.5(RARS2):c.1596A>G (p.Ala532=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3255582	NM_020320.5(RARS2):c.1588C>T (p.His530Tyr)	RARS2 (H355Y +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GLikely pathogenic
Select item 1478449	NM_020320.5(RARS2):c.1587-1G>C	RARS2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2783516	NM_020320.5(RARS2):c.1587-7G>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754526	NM_020320.5(RARS2):c.1587-7G>A	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712279	NM_020320.5(RARS2):c.1587-9del	RARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1111405	NM_020320.5(RARS2):c.1587-9C>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586617	NM_020320.5(RARS2):c.1587-10C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681166	NM_020320.5(RARS2):c.1587-10C>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792117	NM_020320.5(RARS2):c.1587-12T>C	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702066	NM_020320.5(RARS2):c.1587-17del	RARS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1941992	NM_020320.5(RARS2):c.1587-18del	RARS2	Deletion (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 2656760	NM_020320.5(RARS2):c.1586+893T>A	RARS2	Single nucleotide variant (intron variant)	not provided	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 2985231	NM_020320.5(RARS2):c.1586+16C>T	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804808	NM_020320.5(RARS2):c.1586+5_1586+12dup	RARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 2979408	NM_020320.5(RARS2):c.1586+11dup	RARS2	Duplication (intron variant)	not provided	GLikely benign
Select item 2895529	NM_020320.5(RARS2):c.1586+11A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908056	NM_020320.5(RARS2):c.1586+8A>G	RARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1122874	NM_020320.5(RARS2):c.1581T>G (p.Thr527=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1118276	NM_020320.5(RARS2):c.1578A>T (p.Leu526=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989499	NM_020320.5(RARS2):c.1577T>C (p.Leu526Pro)	RARS2 (L351P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1429786	NM_020320.5(RARS2):c.1570del (p.Tyr524fs)	RARS2 (Y349fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2878828	NM_020320.5(RARS2):c.1569T>C (p.Ser523=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1308085	NM_020320.5(RARS2):c.1567A>G (p.Ser523Gly)	RARS2 (S348G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 869402	NM_020320.5(RARS2):c.1564G>A (p.Val522Ile)	RARS2 (V347I +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 764368	NM_020320.5(RARS2):c.1563C>T (p.Ile521=)	RARS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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