ClinVar for MedGen (Select 370596) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25723361.	NM_020320.5(RARS2):c.536-1G>A GRCh37: Chr6:88251713 GRCh38: Chr6:87541995	RARS2		Pontocerebellar hypoplasia type 6	Likely pathogenic (Apr 17, 2023)	criteria provided, single submitter
Select item 24467132.	NM_020320.5(RARS2):c.1261C>T (p.Gln421Ter) GRCh37: Chr6:88228586 GRCh38: Chr6:87518868	RARS2	Q246, Q421	Pontocerebellar hypoplasia type 6	Likely pathogenic	no assertion criteria provided
Select item 24464693.	NM_020320.5(RARS2):c.122A>G (p.Asp41Gly) GRCh37: Chr6:88273939 GRCh38: Chr6:87564221	RARS2	D41G	Pontocerebellar hypoplasia type 6	Uncertain significance	no assertion criteria provided
Select item 24422354.	NM_020320.5(RARS2):c.36+1G>T GRCh37: Chr6:88299639 GRCh38: Chr6:87589921	RARS2		Pontocerebellar hypoplasia type 6	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 24353745.	NM_020320.5(RARS2):c.19C>A (p.Arg7Ser) GRCh37: Chr6:88299657 GRCh38: Chr6:87589939	RARS2	R7S	Pontocerebellar hypoplasia type 6	Uncertain significance (Jan 28, 2021)	criteria provided, single submitter
Select item 24353736.	NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly) GRCh37: Chr6:88228400 GRCh38: Chr6:87518682	RARS2	S280G, S455G	Pontocerebellar hypoplasia type 6	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 24353727.	NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu) GRCh37: Chr6:88226575 GRCh38: Chr6:87516857	RARS2	S337L, S512L	Pontocerebellar hypoplasia type 6	Uncertain significance (Sep 23, 2021)	criteria provided, single submitter
Select item 24329478.	NM_020320.5(RARS2):c.610_612+2del GRCh37: Chr6:88251634-88251638 GRCh38: Chr6:87541916-87541920	RARS2		Pontocerebellar hypoplasia type 6	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 18062639.	NM_020320.5(RARS2):c.25A>G (p.Ile9Val) GRCh37: Chr6:88299651 GRCh38: Chr6:87589933	RARS2	I9V	Pontocerebellar hypoplasia type 6	Uncertain significance (Apr 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168612010.	NM_020320.5(RARS2):c.422A>G (p.His141Arg) GRCh37: Chr6:88258338 GRCh38: Chr6:87548620	RARS2	H141R	Pontocerebellar hypoplasia type 6	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168611911.	NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter) GRCh37: Chr6:88228373 GRCh38: Chr6:87518655	RARS2	Q289, Q464	not provided, Pontocerebellar hypoplasia type 6	Pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150880612.	NM_020320.5(RARS2):c.1415+2T>C GRCh37: Chr6:88228346 GRCh38: Chr6:87518628	RARS2		not provided, Pontocerebellar hypoplasia type 6	Likely pathogenic (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148417213.	NM_020320.5(RARS2):c.772-1G>A GRCh37: Chr6:88239367 GRCh38: Chr6:87529649	RARS2		not provided, Pontocerebellar hypoplasia type 6	Likely pathogenic (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132499414.	NM_020320.5(RARS2):c.1533del (p.Lys511fs) GRCh37: Chr6:88226577 GRCh38: Chr6:87516859	RARS2	K336fs, K511fs	Pontocerebellar hypoplasia type 6	Likely pathogenic (Apr 23, 2021)	criteria provided, single submitter
Select item 132499315.	NM_020320.5(RARS2):c.1416-2A>C GRCh37: Chr6:88227984 GRCh38: Chr6:87518266	RARS2		Pontocerebellar hypoplasia type 6	Likely pathogenic (Mar 19, 2021)	criteria provided, single submitter
Select item 121926016.	NM_020320.5(RARS2):c.1413C>G (p.His471Gln) GRCh37: Chr6:88228350 GRCh38: Chr6:87518632	RARS2	H296Q, H471Q	not provided	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120788017.	NM_020320.5(RARS2):c.1108G>C (p.Glu370Gln) GRCh37: Chr6:88229902 GRCh38: Chr6:87520184	RARS2	E195Q, E370Q	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120195218.	NM_020320.5(RARS2):c.28G>A (p.Ala10Thr) GRCh37: Chr6:88299648 GRCh38: Chr6:87589930	RARS2	A10T	not provided, Inborn genetic diseases	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118521319.	NM_020320.5(RARS2):c.111-21C>T GRCh37: Chr6:88273971 GRCh38: Chr6:87564253	RARS2		not provided, Pontocerebellar hypoplasia type 6	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118521220.	NM_020320.5(RARS2):c.451+140G>A GRCh37: Chr6:88258169 GRCh38: Chr6:87548451	RARS2		not provided, Pontocerebellar hypoplasia type 6	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118439721.	NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter) GRCh37: Chr6:88228451 GRCh38: Chr6:87518733	RARS2	K263, K438	Pontocerebellar hypoplasia type 6	Likely pathogenic (Jul 3, 2020)	criteria provided, single submitter
Select item 108773222.	NM_020320.5(RARS2):c.885A>G (p.Gly295=) GRCh37: Chr6:88234364 GRCh38: Chr6:87524646	RARS2		not provided	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 107628623.	NM_020320.5(RARS2):c.928dup (p.Ile310fs) GRCh37: Chr6:88234320-88234321 GRCh38: Chr6:87524602-87524603	RARS2	I135fs, I310fs	Pontocerebellar hypoplasia type 6, not provided	Pathogenic/Likely pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103207624.	NM_020320.5(RARS2):c.340T>C (p.Leu114=) GRCh37: Chr6:88265181 GRCh38: Chr6:87555463	RARS2		Pontocerebellar hypoplasia type 6	Uncertain significance (May 11, 2018)	criteria provided, single submitter
Select item 103207525.	NM_020320.5(RARS2):c.1554del (p.Arg519fs) GRCh37: Chr6:88226556 GRCh38: Chr6:87516838	RARS2	R344fs, R519fs	Pontocerebellar hypoplasia type 6, not provided	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103207426.	NM_020320.5(RARS2):c.1168G>A (p.Val390Ile) GRCh37: Chr6:88229370 GRCh38: Chr6:87519652	RARS2	V215I, V390I	Pontocerebellar hypoplasia type 6	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 103070127.	NM_020320.5(RARS2):c.536-5G>A GRCh37: Chr6:88251717 GRCh38: Chr6:87541999	RARS2		not specified, Pontocerebellar hypoplasia type 6	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103070028.	NM_020320.5(RARS2):c.488A>G (p.His163Arg) GRCh37: Chr6:88255381 GRCh38: Chr6:87545663	RARS2	H163R	not specified, Pontocerebellar hypoplasia type 6	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103069929.	NM_020320.5(RARS2):c.1297ATT[1] (p.Ile434del) GRCh37: Chr6:88228545-88228547 GRCh38: Chr6:87518827-87518829	RARS2	I259del, I434del	Pontocerebellar hypoplasia type 6	Uncertain significance (Mar 2, 2019)	criteria provided, single submitter
Select item 102751330.	NM_020320.5(RARS2):c.517G>A (p.Asp173Asn) GRCh37: Chr6:88255352 GRCh38: Chr6:87545634	RARS2	D173N	Pontocerebellar hypoplasia type 6, not provided	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 102751231.	NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile) GRCh37: Chr6:88229973 GRCh38: Chr6:87520255	RARS2	T171I, T346I	not specified, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 99218732.	NM_020320.5(RARS2):c.1675G>A (p.Val559Ile) GRCh37: Chr6:88224193 GRCh38: Chr6:87514475	RARS2	V384I, V559I	Pontocerebellar hypoplasia type 6	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99009033.	NM_020320.5(RARS2):c.110A>G (p.Glu37Gly) GRCh37: Chr6:88279235 GRCh38: Chr6:87569517	RARS2	E37G	Pontocerebellar hypoplasia type 6	Uncertain significance (Aug 15, 2020)	no assertion criteria provided
Select item 99008934.	NM_020320.5(RARS2):c.262G>A (p.Val88Ile) GRCh37: Chr6:88272455 GRCh38: Chr6:87562737	RARS2	V88I	Pontocerebellar hypoplasia type 6	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 99008835.	NM_020320.5(RARS2):c.637G>A (p.Ala213Thr) GRCh37: Chr6:88240636 GRCh38: Chr6:87530918	RARS2	A213T, A38T	Pontocerebellar hypoplasia type 6	Uncertain significance (Aug 15, 2020)	no assertion criteria provided
Select item 99008736.	NM_020320.5(RARS2):c.709G>A (p.Ala237Thr) GRCh37: Chr6:88240564 GRCh38: Chr6:87530846	RARS2	A237T, A62T	Inborn genetic diseases	Uncertain significance (Apr 28, 2021)	criteria provided, single submitter
Select item 97728637.	NM_020320.5(RARS2):c.29C>T (p.Ala10Val) GRCh37: Chr6:88299647 GRCh38: Chr6:87589929	RARS2	A10V	Pontocerebellar hypoplasia type 6	Uncertain significance	no assertion criteria provided
Select item 97678038.	NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg) GRCh37: Chr6:88228394 GRCh38: Chr6:87518676	RARS2	G457R, G282R	Pontocerebellar hypoplasia type 6	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 97484839.	NM_020320.5(RARS2):c.1A>T (p.Met1Leu) GRCh37: Chr6:88299675 GRCh38: Chr6:87589957	RARS2	M1L	Pontocerebellar hypoplasia type 6, not provided	Pathogenic/Likely pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93981640.	NM_020320.5(RARS2):c.297+2T>G GRCh37: Chr6:88272418 GRCh38: Chr6:87562700	RARS2		Pontocerebellar hypoplasia type 6, not provided	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93199441.	NM_020320.5(RARS2):c.1305+1G>A GRCh37: Chr6:88228541 GRCh38: Chr6:87518823	RARS2		Pontocerebellar hypoplasia type 6	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 91056942.	NM_020320.5(RARS2):c.879-13T>C GRCh37: Chr6:88234383 GRCh38: Chr6:87524665	RARS2		Pontocerebellar hypoplasia type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90963843.	NM_020320.5(RARS2):c.1367G>A (p.Arg456His) GRCh37: Chr6:88228396 GRCh38: Chr6:87518678	RARS2	R281H, R456H	not provided, Pontocerebellar hypoplasia type 6	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87261144.	NM_020320.5(RARS2):c.2T>G (p.Met1Arg) GRCh37: Chr6:88299674 GRCh38: Chr6:87589956	RARS2	M1R	Pontocerebellar hypoplasia type 6, not provided, Pontoneocerebellar hypoplasia	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86940245.	NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) GRCh37: Chr6:88226546 GRCh38: Chr6:87516828	RARS2	V347I, V522I	not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Sep 17, 2022)	criteria provided, conflicting interpretations
Select item 86940146.	NM_020320.5(RARS2):c.5C>T (p.Ala2Val) GRCh37: Chr6:88299671 GRCh38: Chr6:87589953	RARS2	A2V	not provided, Pontocerebellar hypoplasia type 6	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84088647.	NM_020320.5(RARS2):c.474_477del (p.Glu159fs) GRCh37: Chr6:88255392-88255395 GRCh38: Chr6:87545674-87545677	RARS2	E159fs	not provided, Pontocerebellar hypoplasia type 6	Pathogenic (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80225148.	NM_020320.5(RARS2):c.-2A>G GRCh37: Chr6:88299677 GRCh38: Chr6:87589959	RARS2		not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Feb 22, 2023)	criteria provided, conflicting interpretations
Select item 80225049.	NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) GRCh37: Chr6:88258311 GRCh38: Chr6:87548593	RARS2	I150T	Pontocerebellar hypoplasia type 6	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80224950.	NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) GRCh37: Chr6:88228565 GRCh38: Chr6:87518847	RARS2	G428R, G253R	Pontocerebellar hypoplasia type 6	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 79307151.	NM_020320.5(RARS2):c.15T>A (p.Phe5Leu) GRCh37: Chr6:88299661 GRCh38: Chr6:87589943	RARS2	F5L	not provided	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 79244152.	NM_020320.5(RARS2):c.6G>A (p.Ala2=) GRCh37: Chr6:88299670 GRCh38: Chr6:87589952	RARS2		not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 76663453.	NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) GRCh37: Chr6:88224190 GRCh38: Chr6:87514472	RARS2	R385C, R560C	not provided	Conflicting interpretations of pathogenicity (Jan 6, 2023)	criteria provided, conflicting interpretations
Select item 76237454.	NM_020320.5(RARS2):c.444C>T (p.Thr148=) GRCh37: Chr6:88258316 GRCh38: Chr6:87548598	RARS2		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 75364255.	NM_020320.5(RARS2):c.1170C>T (p.Val390=) GRCh37: Chr6:88229368 GRCh38: Chr6:87519650	RARS2		not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 74799156.	NM_020320.5(RARS2):c.1692C>G (p.Ala564=) GRCh37: Chr6:88224176 GRCh38: Chr6:87514458	RARS2		not provided	Likely benign (Aug 25, 2021)	criteria provided, single submitter
Select item 74167257.	NM_020320.5(RARS2):c.1512-4T>C GRCh37: Chr6:88226602 GRCh38: Chr6:87516884	RARS2		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 73718558.	NM_020320.5(RARS2):c.1306-8C>T GRCh37: Chr6:88228465 GRCh38: Chr6:87518747	RARS2		not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 73130459.	NM_020320.5(RARS2):c.735G>A (p.Arg245=) GRCh37: Chr6:88240538 GRCh38: Chr6:87530820	RARS2		not provided	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 70667660.	NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn) GRCh37: Chr6:88229302 GRCh38: Chr6:87519584	RARS2	K237N, K412N	not provided	Benign (Oct 28, 2022)	criteria provided, single submitter
Select item 70377361.	NM_020320.5(RARS2):c.1512-6T>C GRCh37: Chr6:88226604 GRCh38: Chr6:87516886	RARS2		Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 70358762.	NM_020320.5(RARS2):c.1518C>T (p.Asp506=) GRCh37: Chr6:88226592 GRCh38: Chr6:87516874	RARS2		not provided	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68116663.	NM_020320.5(RARS2):c.1587-10C>G GRCh37: Chr6:88224748 GRCh38: Chr6:87515030	RARS2		not provided	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67677364.	NM_020320.5(RARS2):c.974+90T>C GRCh37: Chr6:88234185 GRCh38: Chr6:87524467	RARS2		not provided, Pontocerebellar hypoplasia type 6	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67372765.	NM_020320.5(RARS2):c.535+60T>C GRCh37: Chr6:88255274 GRCh38: Chr6:87545556	RARS2		Pontocerebellar hypoplasia type 6, not provided	Likely benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67348066.	NM_020320.5(RARS2):c.1237+38G>A GRCh37: Chr6:88229263 GRCh38: Chr6:87519545	RARS2		Pontocerebellar hypoplasia type 6, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67347967.	NM_020320.5(RARS2):c.975-43G>A GRCh37: Chr6:88231285 GRCh38: Chr6:87521567	RARS2		Pontocerebellar hypoplasia type 6, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67161268.	NM_020320.5(RARS2):c.1512-43T>C GRCh37: Chr6:88226641 GRCh38: Chr6:87516923	RARS2		Pontocerebellar hypoplasia type 6, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67159569.	NM_020320.5(RARS2):c.452-21A>G GRCh37: Chr6:88255438 GRCh38: Chr6:87545720	RARS2		Pontocerebellar hypoplasia type 6, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 64128370.	NM_020320.5(RARS2):c.963_964del (p.Tyr322fs) GRCh37: Chr6:88234285-88234286 GRCh38: Chr6:87524567-87524568	RARS2	Y322fs, Y147fs	Pontocerebellar hypoplasia type 6, not provided	Pathogenic/Likely pathogenic (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63259671.	NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) GRCh37: Chr6:88239290 GRCh38: Chr6:87529572	RARS2	L283Q, L108Q	Pontocerebellar hypoplasia type 6, not provided, Pontoneocerebellar hypoplasia	Pathogenic/Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63259572.	NM_020320.5(RARS2):c.1650+5G>A GRCh37: Chr6:88224670 GRCh38: Chr6:87514952	RARS2		not specified, not provided	Conflicting interpretations of pathogenicity (Jul 31, 2023)	criteria provided, conflicting interpretations
Select item 61885573.	NM_020320.5(RARS2):c.1406G>A (p.Arg469His) GRCh37: Chr6:88228357 GRCh38: Chr6:87518639	RARS2	R469H, R294H	Pontoneocerebellar hypoplasia, not provided, Pontocerebellar hypoplasia type 6	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56109674.	NM_020320.5(RARS2):c.214C>G (p.Leu72Val) GRCh37: Chr6:88272503 GRCh38: Chr6:87562785	RARS2	L72V	Pontocerebellar hypoplasia type 6	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter
Select item 54855775.	NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) GRCh37: Chr6:88228358 GRCh38: Chr6:87518640	RARS2	R294C, R469C	not provided, Pontocerebellar hypoplasia type 6, not specified	Conflicting interpretations of pathogenicity (Jul 17, 2023)	criteria provided, conflicting interpretations
Select item 52285776.	NM_020320.5(RARS2):c.1612del (p.Thr538fs) GRCh37: Chr6:88224713 GRCh38: Chr6:87514995	RARS2	T363fs, T538fs	Pontocerebellar hypoplasia type 6	Pathogenic (Oct 7, 2016)	criteria provided, single submitter
Select item 52151977.	NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe) GRCh37: Chr6:88224160 GRCh38: Chr6:87514442	RARS2	L570F, L395F	Inborn genetic diseases, not provided	Uncertain significance (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48858678.	NM_020320.5(RARS2):c.1237+1G>A GRCh37: Chr6:88229300 GRCh38: Chr6:87519582	RARS2		Pontocerebellar hypoplasia type 6	Pathogenic (Dec 7, 2017)	criteria provided, single submitter
Select item 48858579.	NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) GRCh37: Chr6:88226566 GRCh38: Chr6:87516848	RARS2	D515G, D340G	not provided, Pontocerebellar hypoplasia type 6	Likely pathogenic (Aug 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43650880.	NM_020320.5(RARS2):c.370del (p.Gln124fs) GRCh37: Chr6:88265151 GRCh38: Chr6:87555433	RARS2	Q124fs	Pontocerebellar hypoplasia type 6	Likely pathogenic (Sep 1, 2016)	criteria provided, single submitter
Select item 43050081.	NM_020320.5(RARS2):c.42del (p.Arg15fs) GRCh37: Chr6:88279303 GRCh38: Chr6:87569585	RARS2	R15fs	not provided, Pontocerebellar hypoplasia type 6	Pathogenic/Likely pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42459782.	NM_020320.5(RARS2):c.1442A>G (p.Tyr481Cys) GRCh37: Chr6:88227956 GRCh38: Chr6:87518238	RARS2	Y481C, Y306C	not provided	Uncertain significance (Mar 30, 2017)	criteria provided, single submitter
Select item 37847083.	NM_020320.5(RARS2):c.660A>C (p.Ala220=) GRCh37: Chr6:88240613 GRCh38: Chr6:87530895	RARS2		Pontocerebellar hypoplasia type 6, not specified, not provided	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37425484.	NM_020320.5(RARS2):c.407T>C (p.Val136Ala) GRCh37: Chr6:88258353 GRCh38: Chr6:87548635	RARS2	V136A	Pontocerebellar hypoplasia type 6, not provided	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 35824185.	NM_020320.5(RARS2):c.-13C>T GRCh37: Chr6:88299688 GRCh38: Chr6:87589970	RARS2		not specified, Pontocerebellar hypoplasia type 6	Benign/Likely benign (Mar 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35824086.	NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) GRCh37: Chr6:88299650 GRCh38: Chr6:87589932	RARS2	I9T	not provided, Pontocerebellar hypoplasia type 6	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35823987.	NM_020320.5(RARS2):c.207A>G (p.Ala69=) GRCh37: Chr6:88273854 GRCh38: Chr6:87564136	RARS2		not specified, not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 35823888.	NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) GRCh37: Chr6:88272472 GRCh38: Chr6:87562754	RARS2	S82N	not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Oct 15, 2022)	criteria provided, conflicting interpretations
Select item 35823789.	NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) GRCh37: Chr6:88258318 GRCh38: Chr6:87548600	RARS2	T148A	not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Feb 13, 2023)	criteria provided, conflicting interpretations
Select item 35823690.	NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn) GRCh37: Chr6:88240519 GRCh38: Chr6:87530801	RARS2	Y252N, Y77N	not specified, not provided, Pontocerebellar hypoplasia type 6	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35823591.	NM_020320.5(RARS2):c.783A>G (p.Val261=) GRCh37: Chr6:88239355 GRCh38: Chr6:87529637	RARS2		not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Aug 25, 2022)	criteria provided, conflicting interpretations
Select item 35823492.	NM_020320.5(RARS2):c.879-6T>C GRCh37: Chr6:88234376 GRCh38: Chr6:87524658	RARS2		not provided, Pontocerebellar hypoplasia type 6	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35823393.	NM_020320.5(RARS2):c.1036-9C>T GRCh37: Chr6:88229983 GRCh38: Chr6:87520265	RARS2		Pontocerebellar hypoplasia type 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35823294.	NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) GRCh37: Chr6:88227906 GRCh38: Chr6:87518188	RARS2	I498V, I323V	not specified, not provided, Pontocerebellar hypoplasia type 6	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35823195.	NM_020320.5(RARS2):c.1511+3A>G GRCh37: Chr6:88227884 GRCh38: Chr6:87518166	RARS2		Pontocerebellar hypoplasia type 6	Uncertain significance (Aug 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 28973596.	NM_020320.5(RARS2):c.888G>A (p.Thr296=) GRCh37: Chr6:88234361 GRCh38: Chr6:87524643	RARS2		not provided, Pontocerebellar hypoplasia type 6	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 26121997.	NM_020320.5(RARS2):c.1305+18C>T GRCh37: Chr6:88228524 GRCh38: Chr6:87518806	RARS2		not provided, Pontocerebellar hypoplasia type 6, not specified	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26121898.	NM_020320.5(RARS2):c.111-19T>G GRCh37: Chr6:88273969 GRCh38: Chr6:87564251	RARS2		Pontocerebellar hypoplasia type 6, not provided, not specified	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22545299.	NM_020320.5(RARS2):c.189del (p.Gln64fs) GRCh37: Chr6:88273872 GRCh38: Chr6:87564154	RARS2	Q64fs	Pontocerebellar hypoplasia type 6	Uncertain significance (Mar 18, 2016)	criteria provided, single submitter
Select item 225026100.	NM_020320.5(RARS2):c.1A>G (p.Met1Val) GRCh37: Chr6:88299675 GRCh38: Chr6:87589957	RARS2	M1V	Pontocerebellar hypoplasia type 6, not provided, Inborn genetic diseases	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts

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