ClinVar for MedGen (Select 761340) - ClinVar

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Items: 99

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24253621.	NM_152415.3(VPS37A):c.643-11C>T GRCh37: Chr8:17133895 GRCh38: Chr8:17276386	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 24210662.	NM_152415.3(VPS37A):c.417-9T>C GRCh37: Chr8:17132233 GRCh38: Chr8:17274724	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 24157473.	NM_152415.3(VPS37A):c.126-16A>C GRCh37: Chr8:17123400 GRCh38: Chr8:17265891	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 24141954.	NM_152415.3(VPS37A):c.125+15C>T GRCh37: Chr8:17104893 GRCh38: Chr8:17247384	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 24134075.	NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr) GRCh37: Chr8:17133948 GRCh38: Chr8:17276439	VPS37A	D139Y, D204Y, D229Y	Hereditary spastic paraplegia 53	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 21988326.	NM_152415.3(VPS37A):c.841+16C>T GRCh37: Chr8:17137680 GRCh38: Chr8:17280171	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 21965637.	NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr) GRCh37: Chr8:17137650 GRCh38: Chr8:17280141	VPS37A	I186T, I251T, I276T	Inborn genetic diseases, Hereditary spastic paraplegia 53	Uncertain significance (Apr 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21956178.	NM_152415.3(VPS37A):c.699A>G (p.Glu233=) GRCh37: Chr8:17133962 GRCh38: Chr8:17276453	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 21954729.	NM_152415.3(VPS37A):c.1168C>T (p.His390Tyr) GRCh37: Chr8:17143910 GRCh38: Chr8:17286401	VPS37A	H365Y, H300Y, H390Y, H294Y, H384Y	Hereditary spastic paraplegia 53	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 219461410.	NM_152415.3(VPS37A):c.316-19C>T GRCh37: Chr8:17126346 GRCh38: Chr8:17268837	VPS37A		Hereditary spastic paraplegia 53	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 219339111.	NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr) GRCh37: Chr8:17137541 GRCh38: Chr8:17280032	VPS37A	S150T, S240T, S215T	Hereditary spastic paraplegia 53	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218701412.	NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr) GRCh37: Chr8:17137933 GRCh38: Chr8:17280424	VPS37A	R292T, R227T, R311T, R221T, R317T	Hereditary spastic paraplegia 53	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 218004013.	NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly) GRCh37: Chr8:17104785 GRCh38: Chr8:17247276	VPS37A	A11G	Hereditary spastic paraplegia 53	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 217185014.	NM_152415.3(VPS37A):c.751G>A (p.Val251Ile) GRCh37: Chr8:17137574 GRCh38: Chr8:17280065	VPS37A	V161I, V226I, V251I	Hereditary spastic paraplegia 53	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 216632415.	NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg) GRCh37: Chr8:17125781 GRCh38: Chr8:17268272	VPS37A	Q72R, Q47R	Hereditary spastic paraplegia 53	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 215924416.	NM_152415.3(VPS37A):c.644C>G (p.Thr215Arg) GRCh37: Chr8:17133907 GRCh38: Chr8:17276398	VPS37A	T215R, T190R, T125R	Hereditary spastic paraplegia 53	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 215380417.	NM_152415.3(VPS37A):c.1158G>A (p.Ala386=) GRCh37: Chr8:17143900 GRCh38: Chr8:17286391	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 214106718.	NM_152415.3(VPS37A):c.660T>C (p.Phe220=) GRCh37: Chr8:17133923 GRCh38: Chr8:17276414	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 211702619.	NM_152415.3(VPS37A):c.126-1G>C GRCh37: Chr8:17123415 GRCh38: Chr8:17265906	VPS37A		Hereditary spastic paraplegia 53	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 207357420.	NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg) GRCh37: Chr8:17137644 GRCh38: Chr8:17280135	VPS37A	K184R, K274R, K249R	Hereditary spastic paraplegia 53	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 207240021.	NM_152415.3(VPS37A):c.157A>C (p.Arg53=) GRCh37: Chr8:17123447 GRCh38: Chr8:17265938	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 206239122.	NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile) GRCh37: Chr8:17126453 GRCh38: Chr8:17268944	VPS37A	T135I, T45I, T110I	Hereditary spastic paraplegia 53	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 205851623.	NM_152415.3(VPS37A):c.901-18T>C GRCh37: Chr8:17137866 GRCh38: Chr8:17280357	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 204735624.	NM_152415.3(VPS37A):c.852C>A (p.Leu284=) GRCh37: Chr8:17137758 GRCh38: Chr8:17280249	VPS37A		Hereditary spastic paraplegia 53	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 204631925.	NM_152415.3(VPS37A):c.882A>G (p.Arg294=) GRCh37: Chr8:17137788 GRCh38: Chr8:17280279	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 198848026.	NM_152415.3(VPS37A):c.642+19C>G GRCh37: Chr8:17132486 GRCh38: Chr8:17274977	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 197780627.	NM_152415.3(VPS37A):c.642+7A>G GRCh37: Chr8:17132474 GRCh38: Chr8:17274965	VPS37A		Hereditary spastic paraplegia 53	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 197124528.	NM_152415.3(VPS37A):c.261A>G (p.Arg87=) GRCh37: Chr8:17125827 GRCh38: Chr8:17268318	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 194959129.	NM_152415.3(VPS37A):c.315+11G>A GRCh37: Chr8:17125892 GRCh38: Chr8:17268383	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 193405830.	NM_152415.3(VPS37A):c.735G>A (p.Met245Ile) GRCh37: Chr8:17137558 GRCh38: Chr8:17280049	VPS37A	M155I, M245I, M220I	Hereditary spastic paraplegia 53	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 190809431.	NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser) GRCh37: Chr8:17104784 GRCh38: Chr8:17247275	VPS37A	A11S	Hereditary spastic paraplegia 53	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 190585832.	NM_152415.3(VPS37A):c.126-14A>C GRCh37: Chr8:17123402 GRCh38: Chr8:17265893	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 180602833.	NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val) GRCh37: Chr8:17143899 GRCh38: Chr8:17286390	VPS37A	A290V, A296V, A361V, A380V, A386V	Hereditary spastic paraplegia 53	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 172126534.	NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys) GRCh37: Chr8:17137887 GRCh38: Chr8:17280378	VPS37A	E212K, E277K, E302K	Hereditary spastic paraplegia 53	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 163774635.	NM_152415.3(VPS37A):c.303A>G (p.Pro101=) GRCh37: Chr8:17125869 GRCh38: Chr8:17268360	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Jan 11, 2021)	criteria provided, single submitter
Select item 159870936.	NM_152415.3(VPS37A):c.970-1604A>G GRCh37: Chr8:17140378 GRCh38: Chr8:17282869	VPS37A		Hereditary spastic paraplegia 53	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 159164437.	NM_152415.3(VPS37A):c.420A>G (p.Leu140=) GRCh37: Chr8:17132245 GRCh38: Chr8:17274736	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 158338138.	NM_152415.3(VPS37A):c.643-19A>C GRCh37: Chr8:17133887 GRCh38: Chr8:17276378	VPS37A		Hereditary spastic paraplegia 53	Likely benign (May 30, 2021)	criteria provided, single submitter
Select item 152344339.	NM_152415.3(VPS37A):c.802G>A (p.Asp268Asn) GRCh37: Chr8:17137625 GRCh38: Chr8:17280116	VPS37A	D178N, D243N, D268N	Hereditary spastic paraplegia 53	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 151680640.	NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser) GRCh37: Chr8:17137780 GRCh38: Chr8:17280271	VPS37A	A202S, A267S, A292S	Hereditary spastic paraplegia 53	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 147260241.	NM_152415.3(VPS37A):c.560C>T (p.Thr187Ile) GRCh37: Chr8:17132385 GRCh38: Chr8:17274876	VPS37A	T162I, T187I, T97I	Hereditary spastic paraplegia 53	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 144281142.	NM_152415.3(VPS37A):c.417-2A>G GRCh37: Chr8:17132240 GRCh38: Chr8:17274731	VPS37A		Hereditary spastic paraplegia 53	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 141657343.	NM_152415.3(VPS37A):c.892T>A (p.Leu298Ile) GRCh37: Chr8:17137798 GRCh38: Chr8:17280289	VPS37A	L273I, L208I, L298I	Hereditary spastic paraplegia 53, Inborn genetic diseases	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137707244.	NC_000008.10:g.(?_16850399)_(20112692_?)dup GRCh37: Chr8:16850399-20112692	ASAH1, ASAH1-AS1, ATP6V1B2, CNOT7, CSGALNACT1, FGF20, FGL1, INTS10, LPL, LZTS1, MICU3, MTMR7, MTUS1, NAT1, NAT2, PCM1, PDGFRL, PSD3, SH2D4A, SLC18A1, SLC7A2, VPS37A, ZDHHC2		Hereditary spastic paraplegia 53	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 134894545.	NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg) GRCh37: Chr8:17137614 GRCh38: Chr8:17280105	VPS37A	Q264R, Q174R, Q239R	Hereditary spastic paraplegia 53	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 134417546.	NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg) GRCh37: Chr8:17133911 GRCh38: Chr8:17276402	VPS37A	S126R, S191R, S216R	Hereditary spastic paraplegia 53, Hereditary spastic paraplegia, not provided	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124725547.	NM_152415.3(VPS37A):c.1114-26G>C GRCh37: Chr8:17143830 GRCh38: Chr8:17286321	VPS37A		not provided, Hereditary spastic paraplegia 53	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 114317448.	NM_152415.3(VPS37A):c.162G>A (p.Leu54=) GRCh37: Chr8:17123452 GRCh38: Chr8:17265943	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Oct 9, 2020)	criteria provided, single submitter
Select item 113985249.	NM_152415.3(VPS37A):c.606G>T (p.Leu202=) GRCh37: Chr8:17132431 GRCh38: Chr8:17274922	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Feb 6, 2020)	criteria provided, single submitter
Select item 112194750.	NM_152415.3(VPS37A):c.576C>T (p.Ala192=) GRCh37: Chr8:17132401 GRCh38: Chr8:17274892	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 110785951.	NM_152415.3(VPS37A):c.642+10G>A GRCh37: Chr8:17132477 GRCh38: Chr8:17274968	VPS37A		Hereditary spastic paraplegia, Hereditary spastic paraplegia 53	Conflicting interpretations of pathogenicity (Feb 10, 2022)	criteria provided, conflicting interpretations
Select item 108148252.	NM_152415.3(VPS37A):c.901-9C>G GRCh37: Chr8:17137875 GRCh38: Chr8:17280366	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 104452053.	NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly) GRCh37: Chr8:17137635 GRCh38: Chr8:17280126	VPS37A	D246G, D181G, D271G	Hereditary spastic paraplegia 53, Hereditary spastic paraplegia	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104131454.	NM_152415.3(VPS37A):c.745G>A (p.Glu249Lys) GRCh37: Chr8:17137568 GRCh38: Chr8:17280059	VPS37A	E224K, E159K, E249K	Hereditary spastic paraplegia 53	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 103635755.	NM_152415.3(VPS37A):c.451G>T (p.Ala151Ser) GRCh37: Chr8:17132276 GRCh38: Chr8:17274767	VPS37A	A126S, A151S, A61S	Hereditary spastic paraplegia 53	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 103563556.	NM_152415.3(VPS37A):c.642G>A (p.Pro214=) GRCh37: Chr8:17132467 GRCh38: Chr8:17274958	VPS37A		Hereditary spastic paraplegia 53	Uncertain significance (Nov 6, 2021)	criteria provided, single submitter
Select item 102919857.	NM_152415.3(VPS37A):c.215A>T (p.Gln72Leu) GRCh37: Chr8:17125781 GRCh38: Chr8:17268272	VPS37A	Q47L, Q72L	Hereditary spastic paraplegia 53	Uncertain significance (Feb 13, 2019)	criteria provided, single submitter
Select item 101154958.	NM_152415.3(VPS37A):c.424A>G (p.Ser142Gly) GRCh37: Chr8:17132249 GRCh38: Chr8:17274740	VPS37A	S117G, S142G, S52G	Hereditary spastic paraplegia 53	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 97113059.	NM_152415.3(VPS37A):c.424A>T (p.Ser142Cys) GRCh37: Chr8:17132249 GRCh38: Chr8:17274740	VPS37A	S117C, S142C, S52C	Hereditary spastic paraplegia 53	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 96317160.	NM_152415.3(VPS37A):c.623C>T (p.Thr208Ile) GRCh37: Chr8:17132448 GRCh38: Chr8:17274939	VPS37A	T208I, T118I, T183I	Hereditary spastic paraplegia 53	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 95168561.	NM_152415.3(VPS37A):c.416+3A>G GRCh37: Chr8:17126468 GRCh38: Chr8:17268959	VPS37A		Hereditary spastic paraplegia 53	Uncertain significance (Jun 27, 2019)	criteria provided, single submitter
Select item 86340762.	NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn) GRCh37: Chr8:17125862 GRCh38: Chr8:17268353	VPS37A	T74N, T99N, T9N	Hereditary spastic paraplegia 53	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 86023363.	NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu) GRCh37: Chr8:17143907 GRCh38: Chr8:17286398	VPS37A	M364L, M383L, M293L, M299L, M389L	Hereditary spastic paraplegia 53	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 85916764.	NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro) GRCh37: Chr8:17132357 GRCh38: Chr8:17274848	VPS37A	T178P, T88P, T153P	Hereditary spastic paraplegia 53	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 84571465.	NM_152415.3(VPS37A):c.625G>A (p.Val209Met) GRCh37: Chr8:17132450 GRCh38: Chr8:17274941	VPS37A	V119M, V184M, V209M	Hereditary spastic paraplegia 53	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 84422266.	NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr) GRCh37: Chr8:17132351 GRCh38: Chr8:17274842	VPS37A	A151T, A86T, A176T	Hereditary spastic paraplegia 53	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 77903567.	NM_152415.3(VPS37A):c.642+9C>T GRCh37: Chr8:17132476 GRCh38: Chr8:17274967	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Oct 19, 2019)	criteria provided, single submitter
Select item 73467668.	NM_152415.3(VPS37A):c.72C>T (p.Ser24=) GRCh37: Chr8:17104825 GRCh38: Chr8:17247316	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 69697669.	NM_152415.3(VPS37A):c.418C>T (p.Leu140=) GRCh37: Chr8:17132243 GRCh38: Chr8:17274734	VPS37A		Hereditary spastic paraplegia 53, Hereditary spastic paraplegia	Benign/Likely benign (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69645970.	NM_152415.3(VPS37A):c.24C>T (p.Thr8=) GRCh37: Chr8:17104777 GRCh38: Chr8:17247268	VPS37A		not provided, Hereditary spastic paraplegia 53, Hereditary spastic paraplegia	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69635871.	NM_152415.3(VPS37A):c.297C>G (p.Thr99=) GRCh37: Chr8:17125863 GRCh38: Chr8:17268354	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Jun 7, 2018)	criteria provided, single submitter
Select item 69620472.	NM_152415.3(VPS37A):c.446C>T (p.Pro149Leu) GRCh37: Chr8:17132271 GRCh38: Chr8:17274762	VPS37A	P124L, P149L, P59L	Hereditary spastic paraplegia 53	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 67083373.	NM_152415.3(VPS37A):c.841+23G>A GRCh37: Chr8:17137687 GRCh38: Chr8:17280178	VPS37A		Hereditary spastic paraplegia 53, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 66463974.	NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu) GRCh37: Chr8:17142065 GRCh38: Chr8:17284556	VPS37A	D255E, D345E, D351E, D261E, D326E	Hereditary spastic paraplegia 53	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 66379575.	NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser) GRCh37: Chr8:17143904 GRCh38: Chr8:17286395	VPS37A	A292S, A298S, A382S, A388S, A363S	Inborn genetic diseases, Hereditary spastic paraplegia 53	Uncertain significance (Jul 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65814676.	NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn) GRCh37: Chr8:17126410 GRCh38: Chr8:17268901	VPS37A	D31N, D121N, D96N	Hereditary spastic paraplegia 53	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 64625477.	NM_152415.3(VPS37A):c.421T>C (p.Tyr141His) GRCh37: Chr8:17132246 GRCh38: Chr8:17274737	VPS37A	Y116H, Y141H, Y51H	Hereditary spastic paraplegia 53	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 64036478.	NM_152415.3(VPS37A):c.969+6A>G GRCh37: Chr8:17137958 GRCh38: Chr8:17280449	VPS37A		Hereditary spastic paraplegia 53	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 57962779.	NM_152415.3(VPS37A):c.430C>A (p.Pro144Thr) GRCh37: Chr8:17132255 GRCh38: Chr8:17274746	VPS37A	P144T, P119T, P54T	Inborn genetic diseases, Hereditary spastic paraplegia 53	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57691280.	NM_152415.3(VPS37A):c.526G>T (p.Ala176Ser) GRCh37: Chr8:17132351 GRCh38: Chr8:17274842	VPS37A	A176S, A151S, A86S	Hereditary spastic paraplegia 53	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 57457481.	NM_152415.3(VPS37A):c.512C>G (p.Thr171Ser) GRCh37: Chr8:17132337 GRCh38: Chr8:17274828	VPS37A	T171S, T81S, T146S	Hereditary spastic paraplegia 53	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 57028382.	NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser) GRCh37: Chr8:17132402 GRCh38: Chr8:17274893	VPS37A	A193S, A103S, A168S	Hereditary spastic paraplegia 53	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 56919483.	NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln) GRCh37: Chr8:17137610 GRCh38: Chr8:17280101	VPS37A	K263Q, K238Q, K173Q	Hereditary spastic paraplegia 53, Inborn genetic diseases	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54028684.	NM_152415.3(VPS37A):c.834A>G (p.Glu278=) GRCh37: Chr8:17137657 GRCh38: Chr8:17280148	VPS37A		not provided, Hereditary spastic paraplegia 53	Benign/Likely benign (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54028585.	NM_152415.3(VPS37A):c.96G>C (p.Leu32=) GRCh37: Chr8:17104849 GRCh38: Chr8:17247340	VPS37A		Hereditary spastic paraplegia 53	Likely benign (Sep 4, 2020)	criteria provided, single submitter
Select item 52258786.	NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) GRCh37: Chr8:17133963 GRCh38: Chr8:17276454	VPS37A	L234I, L144I, L209I	Idiopathic transverse myelitis, Hereditary spastic paraplegia 53	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 51056087.	NM_152415.3(VPS37A):c.315+14A>C GRCh37: Chr8:17125895 GRCh38: Chr8:17268386	VPS37A		Hereditary spastic paraplegia 53, not specified	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50980288.	NM_152415.3(VPS37A):c.125+8G>A GRCh37: Chr8:17104886 GRCh38: Chr8:17247377	VPS37A		not specified, Hereditary spastic paraplegia 53, Hereditary spastic paraplegia	Benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50724789.	NM_152415.3(VPS37A):c.416+17T>C GRCh37: Chr8:17126482 GRCh38: Chr8:17268973	VPS37A		Hereditary spastic paraplegia 53, not specified	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50037690.	NM_152415.3(VPS37A):c.99C>A (p.Ile33=) GRCh37: Chr8:17104852 GRCh38: Chr8:17247343	VPS37A		not provided, Hereditary spastic paraplegia 53	Conflicting interpretations of pathogenicity (Jul 30, 2020)	criteria provided, conflicting interpretations
Select item 47306891.	NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn) GRCh37: Chr8:17137772 GRCh38: Chr8:17280263	VPS37A	S289N, S199N, S264N	Hereditary spastic paraplegia 53	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 47306792.	NM_152415.3(VPS37A):c.1176A>G (p.Gln392=) GRCh37: Chr8:17143918 GRCh38: Chr8:17286409	VPS37A		Hereditary spastic paraplegia 53, Hereditary spastic paraplegia	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47306693.	NM_152415.3(VPS37A):c.1145A>C (p.Lys382Thr) GRCh37: Chr8:17143887 GRCh38: Chr8:17286378	VPS37A	K382T, K357T, K286T, K292T, K376T	Hereditary spastic paraplegia 53	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 38398094.	NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe) GRCh37: Chr8:17132441 GRCh38: Chr8:17274932	VPS37A	I206F, I181F, I116F	not specified, Hereditary spastic paraplegia, Hereditary spastic paraplegia 53, not provided	Benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 38092995.	NM_152415.3(VPS37A):c.316-17T>C GRCh37: Chr8:17126348 GRCh38: Chr8:17268839	VPS37A		not specified, Hereditary spastic paraplegia 53	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38087696.	NM_152415.3(VPS37A):c.1053C>T (p.Asp351=) GRCh37: Chr8:17142065 GRCh38: Chr8:17284556	VPS37A		not specified, Hereditary spastic paraplegia 53	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28415797.	NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) GRCh37: Chr8:17132462 GRCh38: Chr8:17274953	VPS37A	I213V, I188V, I123V	Hereditary spastic paraplegia 53, not specified, Hereditary spastic paraplegia	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19658098.	NM_152415.3(VPS37A):c.202T>C (p.Leu68=) GRCh37: Chr8:17125768 GRCh38: Chr8:17268259	VPS37A		not specified, Hereditary spastic paraplegia 53	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3974199.	NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn) GRCh37: Chr8:17143888 GRCh38: Chr8:17286379	VPS37A	K382N, K292N, K286N, K357N, K376N	Hereditary spastic paraplegia 53	Pathogenic (Jul 1, 2012)	no assertion criteria provided

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Items: 99