ClinVar for MedGen (Select 862925) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12341281.	NM_001128159.3(VPS53):c.1314-19dup GRCh37: Chr17:465993-465994 GRCh38: Chr17:562753-562754	VPS53		Pontocerebellar hypoplasia type 2E, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11854612.	NM_001128159.3(VPS53):c.1117-26T>C GRCh37: Chr17:505162 GRCh38: Chr17:601922	LOC126862457, VPS53		not provided, Pontocerebellar hypoplasia type 2E	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11854603.	NM_001128159.3(VPS53):c.1218+817A>G GRCh37: Chr17:504218 GRCh38: Chr17:600978	VPS53		Pontocerebellar hypoplasia type 2E	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 11853784.	NM_001128159.3(VPS53):c.1557-30T>C GRCh37: Chr17:463843 GRCh38: Chr17:560603	LOC126862456, VPS53		not provided, Pontocerebellar hypoplasia type 2E	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10326445.	NM_001128159.3(VPS53):c.959T>G (p.Phe320Cys) GRCh37: Chr17:530429 GRCh38: Chr17:627189	VPS53	F320C, F291C, F122C	Pontocerebellar hypoplasia type 2E	Uncertain significance (Jan 29, 2018)	criteria provided, single submitter
Select item 10291136.	NM_001128159.3(VPS53):c.2420T>C (p.Leu807Pro) GRCh37: Chr17:422447 GRCh38: Chr17:519207	VPS53	L807P	Pontocerebellar hypoplasia type 2E	Uncertain significance (Jan 24, 2020)	criteria provided, single submitter
Select item 10291127.	NM_001128159.3(VPS53):c.2365C>G (p.Leu789Val) GRCh37: Chr17:422502 GRCh38: Chr17:519262	VPS53	L789V	Pontocerebellar hypoplasia type 2E	Uncertain significance (Apr 15, 2019)	criteria provided, single submitter
Select item 10291118.	NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg) GRCh37: Chr17:422538 GRCh38: Chr17:519298	VPS53	G777R	Pontocerebellar hypoplasia type 2E	Uncertain significance (Feb 20, 2019)	criteria provided, single submitter
Select item 10291109.	NM_001128159.3(VPS53):c.2006A>G (p.Lys669Arg) GRCh37: Chr17:440277 GRCh38: Chr17:537037	VPS53	K471R, K640R, K669R	Pontocerebellar hypoplasia type 2E	Uncertain significance (Jun 19, 2019)	criteria provided, single submitter
Select item 98459410.	NM_001128159.3(VPS53):c.1247C>A (p.Pro416Gln) GRCh37: Chr17:489576 GRCh38: Chr17:586336	VPS53	P218Q, P387Q, P416Q	Pontocerebellar hypoplasia type 2E	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 81822711.	NM_001128159.3(VPS53):c.692C>T (p.Pro231Leu) GRCh37: Chr17:531467 GRCh38: Chr17:628227	VPS53	P202L, P231L, P33L	Pontocerebellar hypoplasia type 2E	Likely pathogenic (Sep 11, 2019)	no assertion criteria provided
Select item 67086012.	NM_001128159.3(VPS53):c.1117-91C>G GRCh37: Chr17:505227 GRCh38: Chr17:601987	VPS53, LOC126862457		not provided, Pontocerebellar hypoplasia type 2E	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67085813.	NM_001128159.3(VPS53):c.1867-71T>C GRCh37: Chr17:440487 GRCh38: Chr17:537247	VPS53		Pontocerebellar hypoplasia type 2E, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67083914.	NM_001128159.3(VPS53):c.1218+57G>C GRCh37: Chr17:504978 GRCh38: Chr17:601738	LOC126862457, VPS53		not provided, Pontocerebellar hypoplasia type 2E	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67083515.	NM_001128159.3(VPS53):c.218+102C>G GRCh37: Chr17:602469 GRCh38: Chr17:699229	VPS53		Pontocerebellar hypoplasia type 2E, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67026916.	NM_001128159.3(VPS53):c.1867-81C>T GRCh37: Chr17:440497 GRCh38: Chr17:537257	VPS53		Pontocerebellar hypoplasia type 2E, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67026817.	NM_001128159.3(VPS53):c.-90C>T GRCh37: Chr17:618039 GRCh38: Chr17:714799	VPS53		Pontocerebellar hypoplasia type 2E, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55794318.	NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter) GRCh37: Chr17:465783 GRCh38: Chr17:562543	VPS53	R506, R308, R477*	Pontocerebellar hypoplasia type 2E	Likely pathogenic (Apr 20, 2018)	criteria provided, single submitter
Select item 55411919.	NM_001128159.3(VPS53):c.1312_1313+2del GRCh37: Chr17:489508-489511 GRCh38: Chr17:586268-586271	VPS53		Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2E, not provided	Likely pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55183920.	NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter) GRCh37: Chr17:422520 GRCh38: Chr17:519280	VPS53	Q783*	Pontocerebellar hypoplasia type 2E	Uncertain significance (May 9, 2017)	criteria provided, single submitter
Select item 44439021.	NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu) GRCh37: Chr17:556555 GRCh38: Chr17:653315	VPS53	P195L, P166L	Pontocerebellar hypoplasia type 2E, not provided	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38092422.	NM_001128159.3(VPS53):c.1117-3C>T GRCh37: Chr17:505139 GRCh38: Chr17:601899	LOC126862457, VPS53		not specified, Pontocerebellar hypoplasia type 2E, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38089423.	NM_001128159.3(VPS53):c.81C>T (p.Ile27=) GRCh37: Chr17:617869 GRCh38: Chr17:714629	VPS53		Pontocerebellar hypoplasia type 2E, not specified, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38087924.	NM_001128159.3(VPS53):c.2328+15A>G GRCh37: Chr17:423051 GRCh38: Chr17:519811	VPS53		not provided, Pontocerebellar hypoplasia type 2E, not specified	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38087825.	NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=) GRCh37: Chr17:465775 GRCh38: Chr17:562535	VPS53		Pontocerebellar hypoplasia type 2E, not provided, not specified	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38087726.	NM_001128159.3(VPS53):c.219-11T>C GRCh37: Chr17:600735 GRCh38: Chr17:697495	VPS53		Pontocerebellar hypoplasia type 2E, not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37685027.	NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) GRCh37: Chr17:436105 GRCh38: Chr17:532865	VPS53	I688V, I490V, I659V	Pontocerebellar hypoplasia type 2E, not provided	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13944528.	NM_001128159.3(VPS53):c.1556+5G>A GRCh37: Chr17:465738 GRCh38: Chr17:562498	VPS53		Pontocerebellar hypoplasia type 2E, Pontoneocerebellar hypoplasia	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13944429.	NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg) GRCh37: Chr17:436083 GRCh38: Chr17:532843	VPS53	Q695R, Q497R, Q666R	Pontocerebellar hypoplasia type 2E	Pathogenic (Aug 17, 2021)	criteria provided, single submitter

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Items: 29