ClinVar for MedGen (Select 374177) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25750611.	NM_000533.5(PLP1):c.789C>G (p.Tyr263Ter) GRCh37: ChrX:103045481 GRCh38: ChrX:103790553	PLP1, RAB9B	Y208, Y228, Y263*	Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Likely pathogenic	criteria provided, single submitter
Select item 24232482.	NC_000023.10:g.(?_103040922)_(103042832_?)del GRCh37: ChrX:103040922-103042832	PLP1		Hereditary spastic paraplegia 2	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 24232473.	NC_000023.10:g.(?_103031924)_(103040717_?)dup GRCh37: ChrX:103031924-103040717	PLP1		Hereditary spastic paraplegia 2	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 24232464.	NC_000023.10:g.(?_103042707)_(103045526_?)del GRCh37: ChrX:103042707-103045526	PLP1		Hereditary spastic paraplegia 2	Pathogenic (May 15, 2022)	criteria provided, single submitter
Select item 24232445.	NC_000023.10:g.(?_103031924)_(103045526_?)del GRCh37: ChrX:103031924-103045526	PLP1		Hereditary spastic paraplegia 2	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 24199086.	NM_000533.5(PLP1):c.564C>T (p.Ala188=) GRCh37: ChrX:103042837 GRCh38: ChrX:103787908	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 24184367.	NM_000533.5(PLP1):c.345A>G (p.Ala115=) GRCh37: ChrX:103041547 GRCh38: ChrX:103786618	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 24182488.	NM_000533.5(PLP1):c.546C>T (p.Thr182=) GRCh37: ChrX:103042819 GRCh38: ChrX:103787890	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 21411069.	NM_000533.5(PLP1):c.486G>A (p.Val162=) GRCh37: ChrX:103042759 GRCh38: ChrX:103787830	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 213868010.	NM_000533.5(PLP1):c.698T>C (p.Phe233Ser) GRCh37: ChrX:103044263 GRCh38: ChrX:103789334	RAB9B, PLP1	F178S, F198S, F233S	Hereditary spastic paraplegia 2	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 213867911.	NM_000533.5(PLP1):c.697-1G>A GRCh37: ChrX:103044261 GRCh38: ChrX:103789332	PLP1, RAB9B		Hereditary spastic paraplegia 2	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 213867812.	NM_000533.5(PLP1):c.674T>C (p.Leu225Pro) GRCh37: ChrX:103043417 GRCh38: ChrX:103788488	PLP1, RAB9B	L190P, L225P, L170P	Hereditary spastic paraplegia 2	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 213867713.	NM_000533.5(PLP1):c.670C>T (p.Leu224Phe) GRCh37: ChrX:103043413 GRCh38: ChrX:103788484	RAB9B, PLP1	L169F, L189F, L224F	Hereditary spastic paraplegia 2	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 213867614.	NM_000533.5(PLP1):c.446C>T (p.Pro149Leu) GRCh37: ChrX:103041648 GRCh38: ChrX:103786719	PLP1, RAB9B	P149L, P94L	Hereditary spastic paraplegia 2	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 212939315.	NM_000533.5(PLP1):c.584C>T (p.Ala195Val) GRCh37: ChrX:103042857 GRCh38: ChrX:103787928	RAB9B, PLP1	A160V, A140V, A195V	Hereditary spastic paraplegia 2	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 211991616.	NM_000533.5(PLP1):c.378C>T (p.Ser126=) GRCh37: ChrX:103041580 GRCh38: ChrX:103786651	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211952817.	NM_000533.5(PLP1):c.736G>C (p.Gly246Arg) GRCh37: ChrX:103044301 GRCh38: ChrX:103789372	PLP1, RAB9B	G246R, G191R, G211R	Hereditary spastic paraplegia 2	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 211734518.	NM_000533.5(PLP1):c.116C>A (p.Ala39Asp) GRCh37: ChrX:103040622 GRCh38: ChrX:103785693	PLP1, RAB9B	A39D	Hereditary spastic paraplegia 2	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211260919.	NM_000533.5(PLP1):c.680T>A (p.Ile227Asn) GRCh37: ChrX:103043423 GRCh38: ChrX:103788494	RAB9B, PLP1	I172N, I227N, I192N	Hereditary spastic paraplegia 2	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 210433720.	NM_000533.5(PLP1):c.453+43G>A GRCh37: ChrX:103041698 GRCh38: ChrX:103786769	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 209956921.	NM_000533.5(PLP1):c.95T>C (p.Phe32Ser) GRCh37: ChrX:103040601 GRCh38: ChrX:103785672	PLP1, RAB9B	F32S	Hereditary spastic paraplegia 2	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209924922.	NM_000533.5(PLP1):c.388C>A (p.His130Asn) GRCh37: ChrX:103041590 GRCh38: ChrX:103786661	RAB9B, PLP1	H130N, H75N	Hereditary spastic paraplegia 2	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 209606423.	NM_000533.5(PLP1):c.5-14T>C GRCh37: ChrX:103040497 GRCh38: ChrX:103785568	RAB9B, PLP1		Hereditary spastic paraplegia 2	Benign (Sep 19, 2022)	criteria provided, single submitter
Select item 209368524.	NM_000533.5(PLP1):c.583G>T (p.Ala195Ser) GRCh37: ChrX:103042856 GRCh38: ChrX:103787927	PLP1, RAB9B	A140S, A195S, A160S	Hereditary spastic paraplegia 2	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 208764325.	NM_000533.5(PLP1):c.669C>A (p.Asn223Lys) GRCh37: ChrX:103043412 GRCh38: ChrX:103788483	RAB9B, PLP1	N223K, N188K, N168K	Hereditary spastic paraplegia 2	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 208061726.	NM_000533.5(PLP1):c.588dup (p.Ile197fs) GRCh37: ChrX:103042860-103042861 GRCh38: ChrX:103787931-103787932	RAB9B, PLP1	I142fs, I162fs, I197fs	Hereditary spastic paraplegia 2	Pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 206949327.	NM_000533.5(PLP1):c.489G>C (p.Trp163Cys) GRCh37: ChrX:103042762 GRCh38: ChrX:103787833	PLP1, RAB9B	W128C, W163C, W108C	Hereditary spastic paraplegia 2	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 205777028.	NM_000533.5(PLP1):c.578C>A (p.Thr193Asn) GRCh37: ChrX:103042851 GRCh38: ChrX:103787922	PLP1, RAB9B	T158N, T138N, T193N	not provided, Hereditary spastic paraplegia 2	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 205390429.	NM_000533.5(PLP1):c.180T>G (p.Tyr60Ter) GRCh37: ChrX:103040686 GRCh38: ChrX:103785757	RAB9B, PLP1	Y5, Y60	Hereditary spastic paraplegia 2	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 204364130.	NM_000533.5(PLP1):c.435G>A (p.Trp145Ter) GRCh37: ChrX:103041637 GRCh38: ChrX:103786708	PLP1, RAB9B	W145, W90	Hereditary spastic paraplegia 2	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 201886431.	NM_000533.5(PLP1):c.669C>T (p.Asn223=) GRCh37: ChrX:103043412 GRCh38: ChrX:103788483	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 201820732.	NM_000533.5(PLP1):c.43C>T (p.Pro15Ser) GRCh37: ChrX:103040549 GRCh38: ChrX:103785620	RAB9B, PLP1	P15S	Hereditary spastic paraplegia 2	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 201552133.	NM_000533.5(PLP1):c.553C>T (p.Gln185Ter) GRCh37: ChrX:103042826 GRCh38: ChrX:103787897	RAB9B, PLP1	Q150, Q130, Q185*	Hereditary spastic paraplegia 2	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 200205834.	NM_000533.5(PLP1):c.5-1G>A GRCh37: ChrX:103040510 GRCh38: ChrX:103785581	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely pathogenic (Jun 2, 2022)	criteria provided, single submitter
Select item 197430635.	NM_000533.5(PLP1):c.5-12C>T GRCh37: ChrX:103040499 GRCh38: ChrX:103785570	RAB9B, PLP1		Hereditary spastic paraplegia 2	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 197289036.	NM_000533.5(PLP1):c.541T>G (p.Trp181Gly) GRCh37: ChrX:103042814 GRCh38: ChrX:103787885	RAB9B, PLP1	W126G, W146G, W181G	Hereditary spastic paraplegia 2	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 196643737.	NM_000533.5(PLP1):c.123T>G (p.Thr41=) GRCh37: ChrX:103040629 GRCh38: ChrX:103785700	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 193209938.	NM_000533.5(PLP1):c.142_152del (p.Glu48fs) GRCh37: ChrX:103040646-103040656 GRCh38: ChrX:103785717-103785727	RAB9B, PLP1	E48fs	Hereditary spastic paraplegia 2	Pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 190729239.	NM_000533.5(PLP1):c.480C>T (p.Thr160=) GRCh37: ChrX:103042753 GRCh38: ChrX:103787824	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 173692140.	NM_000533.5(PLP1):c.4+4A>C GRCh37: ChrX:103031931 GRCh38: ChrX:103777003	RAB9B, PLP1		Inborn genetic diseases, Hereditary spastic paraplegia 2	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171695041.	NM_000533.5(PLP1):c.169G>A (p.Asp57Asn) GRCh37: ChrX:103040675 GRCh38: ChrX:103785746	PLP1, RAB9B	D57N	Hereditary spastic paraplegia 2	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 170980942.	NM_014946.4(SPAST):c.1303C>A (p.Pro435Thr) GRCh37: Chr2:32361689 GRCh38: Chr2:32136620	SPAST	P402T, P403T, P434T, P435T	Hereditary spastic paraplegia 2	Likely pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 167161943.	NM_000533.5(PLP1):c.306C>T (p.Gly102=) GRCh37: ChrX:103041508 GRCh38: ChrX:103786579	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 166861544.	NM_000533.5(PLP1):c.763-17_763-14del GRCh37: ChrX:103045438-103045441 GRCh38: ChrX:103790510-103790513	RAB9B, PLP1		Hereditary spastic paraplegia 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 165965245.	NM_000533.5(PLP1):c.666C>T (p.Ser222=) GRCh37: ChrX:103043409 GRCh38: ChrX:103788480	PLP1, RAB9B		Hereditary spastic paraplegia 2	Benign (Jul 27, 2022)	criteria provided, single submitter
Select item 165820946.	NM_000533.5(PLP1):c.191+17C>T GRCh37: ChrX:103040714 GRCh38: ChrX:103785785	PLP1, RAB9B		Hereditary spastic paraplegia 2	Benign (Dec 2, 2021)	criteria provided, single submitter
Select item 164873347.	NM_000533.5(PLP1):c.622+14C>T GRCh37: ChrX:103042909 GRCh38: ChrX:103787980	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 164076748.	NM_000533.5(PLP1):c.763-20C>A GRCh37: ChrX:103045435 GRCh38: ChrX:103790507	PLP1, RAB9B		Hereditary spastic paraplegia 2	Benign (Nov 2, 2022)	criteria provided, single submitter
Select item 160201449.	NM_000533.5(PLP1):c.18C>T (p.Cys6=) GRCh37: ChrX:103040524 GRCh38: ChrX:103785595	RAB9B, PLP1		Hereditary spastic paraplegia 2	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 159968850.	NM_000533.5(PLP1):c.549C>A (p.Thr183=) GRCh37: ChrX:103042822 GRCh38: ChrX:103787893	RAB9B, PLP1		Hereditary spastic paraplegia 2	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 159330551.	NM_000533.5(PLP1):c.342C>T (p.Ser114=) GRCh37: ChrX:103041544 GRCh38: ChrX:103786615	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 158785352.	NM_000533.5(PLP1):c.318C>T (p.Thr106=) GRCh37: ChrX:103041520 GRCh38: ChrX:103786591	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 158006653.	NM_000533.5(PLP1):c.357G>C (p.Gly119=) GRCh37: ChrX:103041559 GRCh38: ChrX:103786630	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 157818854.	NM_000533.5(PLP1):c.5-10T>A GRCh37: ChrX:103040501 GRCh38: ChrX:103785572	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Aug 22, 2021)	criteria provided, single submitter
Select item 157644655.	NM_000533.5(PLP1):c.191+19A>G GRCh37: ChrX:103040716 GRCh38: ChrX:103785787	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 157469156.	NM_000533.5(PLP1):c.453+37G>T GRCh37: ChrX:103041692 GRCh38: ChrX:103786763	RAB9B, PLP1		Hereditary spastic paraplegia 2	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 156655557.	NM_000533.5(PLP1):c.291C>G (p.Val97=) GRCh37: ChrX:103041493 GRCh38: ChrX:103786564	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 156044558.	NM_000533.5(PLP1):c.192-19T>A GRCh37: ChrX:103041375 GRCh38: ChrX:103786446	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 153236059.	NM_000533.5(PLP1):c.579C>T (p.Thr193=) GRCh37: ChrX:103042852 GRCh38: ChrX:103787923	PLP1, RAB9B		not provided, Hereditary spastic paraplegia 2	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 150560160.	NM_000533.5(PLP1):c.736G>A (p.Gly246Arg) GRCh37: ChrX:103044301 GRCh38: ChrX:103789372	PLP1, RAB9B	G191R, G211R, G246R	Hereditary spastic paraplegia 2, not provided	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 150471261.	NM_000533.5(PLP1):c.464T>A (p.Ile155Asn) GRCh37: ChrX:103042737 GRCh38: ChrX:103787808	PLP1, RAB9B	I100N, I155N, I120N	Hereditary spastic paraplegia 2	Uncertain significance (Oct 16, 2021)	criteria provided, single submitter
Select item 150433462.	NM_000533.5(PLP1):c.788_794del (p.Tyr263fs) GRCh37: ChrX:103045476-103045482 GRCh38: ChrX:103790548-103790554	PLP1, RAB9B	Y208fs, Y228fs, Y263fs	Hereditary spastic paraplegia 2	Uncertain significance (Nov 27, 2020)	criteria provided, single submitter
Select item 150263563.	NM_000533.5(PLP1):c.734T>A (p.Val245Glu) GRCh37: ChrX:103044299 GRCh38: ChrX:103789370	PLP1, RAB9B	V190E, V245E, V210E	Hereditary spastic paraplegia 2	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 149751064.	NM_000533.5(PLP1):c.649G>A (p.Gly217Ser) GRCh37: ChrX:103043392 GRCh38: ChrX:103788463	PLP1, RAB9B	G182S, G162S, G217S	Hereditary spastic paraplegia 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 148302465.	NM_000533.5(PLP1):c.453+1G>T GRCh37: ChrX:103041656 GRCh38: ChrX:103786727	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 147923566.	NM_000533.5(PLP1):c.98G>T (p.Cys33Phe) GRCh37: ChrX:103040604 GRCh38: ChrX:103785675	PLP1, RAB9B	C33F	Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147302367.	NM_000533.5(PLP1):c.202T>C (p.Phe68Leu) GRCh37: ChrX:103041404 GRCh38: ChrX:103786475	PLP1, RAB9B	F13L, F68L	Hereditary spastic paraplegia 2	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 145954668.	NM_000533.5(PLP1):c.205C>T (p.Gln69Ter) GRCh37: ChrX:103041407 GRCh38: ChrX:103786478	PLP1, RAB9B	Q14, Q69	Hereditary spastic paraplegia 2	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 145891569.	NC_000023.10:g.(?_103031003)_(103031929_?)del GRCh37: ChrX:103031003-103031929	PLP1		Hereditary spastic paraplegia 2	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 142533170.	NM_000533.5(PLP1):c.194T>A (p.Ile65Asn) GRCh37: ChrX:103041396 GRCh38: ChrX:103786467	PLP1, RAB9B	I10N, I65N	Hereditary spastic paraplegia 2	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 142128771.	NM_000533.5(PLP1):c.614G>A (p.Arg205Lys) GRCh37: ChrX:103042887 GRCh38: ChrX:103787958	PLP1, RAB9B	R170K, R150K, R205K	Hereditary spastic paraplegia 2	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 141067572.	NM_000533.5(PLP1):c.634T>C (p.Trp212Arg) GRCh37: ChrX:103043377 GRCh38: ChrX:103788448	PLP1, RAB9B	W212R, W157R, W177R	Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease	Conflicting interpretations of pathogenicity (Jun 30, 2022)	criteria provided, conflicting interpretations
Select item 141067473.	NM_000533.5(PLP1):c.548C>A (p.Thr183Asn) GRCh37: ChrX:103042821 GRCh38: ChrX:103787892	PLP1, RAB9B	T128N, T183N, T148N	See cases, Hereditary spastic paraplegia 2	Conflicting interpretations of pathogenicity (Dec 21, 2022)	criteria provided, conflicting interpretations
Select item 138891974.	NM_000533.5(PLP1):c.416_417del (p.Cys139fs) GRCh37: ChrX:103041614-103041615 GRCh38: ChrX:103786685-103786686	PLP1, RAB9B	C139fs, C84fs	Hereditary spastic paraplegia 2	Pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 138774575.	NM_000533.5(PLP1):c.428del (p.Gly143fs) GRCh37: ChrX:103041628 GRCh38: ChrX:103786699	PLP1, RAB9B	G143fs, G88fs	Hereditary spastic paraplegia 2	Pathogenic (Mar 12, 2021)	criteria provided, single submitter
Select item 138396876.	NM_000533.5(PLP1):c.785C>G (p.Thr262Ser) GRCh37: ChrX:103045477 GRCh38: ChrX:103790549	PLP1, RAB9B	T227S, T262S, T207S	Hereditary spastic paraplegia 2	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 136464077.	NM_000533.5(PLP1):c.340A>G (p.Ser114Gly) GRCh37: ChrX:103041542 GRCh38: ChrX:103786613	PLP1, RAB9B	S59G, S114G	Hereditary spastic paraplegia 2	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 134555778.	NM_000533.5(PLP1):c.4+1G>A GRCh37: ChrX:103031928 GRCh38: ChrX:103777000	PLP1, RAB9B		Hereditary spastic paraplegia 2	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 134446679.	NM_000533.5(PLP1):c.442C>T (p.His148Tyr) GRCh37: ChrX:103041644 GRCh38: ChrX:103786715	PLP1, RAB9B	H148Y, H93Y	Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132855680.	NM_000533.5(PLP1):c.194T>G (p.Ile65Ser) GRCh37: ChrX:103041396 GRCh38: ChrX:103786467	PLP1, RAB9B	I10S, I65S	Hereditary spastic paraplegia 2	Uncertain significance (May 14, 2021)	criteria provided, single submitter
Select item 132742581.	NM_000533.5(PLP1):c.622+28C>G GRCh37: ChrX:103042923 GRCh38: ChrX:103787994	PLP1, RAB9B		Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease	Benign (Oct 25, 2021)	criteria provided, single submitter
Select item 118457782.	NM_000533.5(PLP1):c.423_426del (p.Cys141fs) GRCh37: ChrX:103041622-103041625 GRCh38: ChrX:103786693-103786696	PLP1, RAB9B	C141fs, C86fs	Hereditary spastic paraplegia 2	Likely pathogenic	no assertion criteria provided
Select item 107718883.	Single allele GRCh37: ChrX:102508548-103080719	BEX2, BEX3, MORF4L2, PLP1, RAB40A, RAB9B, TCEAL1, TCEAL3, TCEAL4, TCEAL5, TCEAL7, TCEAL8, TCEAL9, TMEM31		Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 106886784.	NC_000023.10:g.(?_103031924)_(103045526_?)dup GRCh37: ChrX:103031924-103045526	PLP1		Hereditary spastic paraplegia 2	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 106818285.	NM_000533.5(PLP1):c.647C>T (p.Pro216Leu) GRCh37: ChrX:103043390 GRCh38: ChrX:103788461	PLP1, RAB9B	P161L, P181L, P216L	Hereditary spastic paraplegia 2, not provided	Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102990186.	NM_000533.5(PLP1):c.670C>A (p.Leu224Ile) GRCh37: ChrX:103043413 GRCh38: ChrX:103788484	PLP1, RAB9B	L224I, L169I, L189I	Hereditary spastic paraplegia 2	Likely pathogenic (Feb 21, 2019)	criteria provided, single submitter
Select item 102362387.	NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del) GRCh37: ChrX:103041434-103041436 GRCh38: ChrX:103786505-103786507	PLP1, RAB9B	F25del, F80del	Hereditary spastic paraplegia 2	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 102197288.	NM_000533.5(PLP1):c.788A>G (p.Tyr263Cys) GRCh37: ChrX:103045480 GRCh38: ChrX:103790552	PLP1, RAB9B	Y208C, Y228C, Y263C	Hereditary spastic paraplegia 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 101288489.	NM_000533.5(PLP1):c.594C>A (p.Gly198=) GRCh37: ChrX:103042867 GRCh38: ChrX:103787938	PLP1, RAB9B		not provided, Hereditary spastic paraplegia 2	Benign/Likely benign (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100182190.	NM_000533.5(PLP1):c.661G>A (p.Gly221Ser) GRCh37: ChrX:103043404 GRCh38: ChrX:103788475	PLP1, RAB9B	G166S, G186S, G221S	Hereditary spastic paraplegia 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 98919891.	NM_000533.5(PLP1):c.27_34dup (p.Val12fs) GRCh37: ChrX:103040531-103040532 GRCh38: ChrX:103785602-103785603	PLP1, RAB9B	V12fs	Hereditary spastic paraplegia 2	Pathogenic	criteria provided, single submitter
Select item 95656692.	NM_000533.5(PLP1):c.763-3C>T GRCh37: ChrX:103045452 GRCh38: ChrX:103790524	PLP1, RAB9B		Hereditary spastic paraplegia 2	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 95282493.	NM_000533.5(PLP1):c.454-314T>G GRCh37: ChrX:103042413 GRCh38: ChrX:103787484	PLP1, RAB9B		Hereditary spastic paraplegia 2	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 94457894.	NM_000533.5(PLP1):c.441A>T (p.Gly147=) GRCh37: ChrX:103041643 GRCh38: ChrX:103786714	PLP1, RAB9B		Hereditary spastic paraplegia 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 93829895.	NM_000533.5(PLP1):c.157A>C (p.Lys53Gln) GRCh37: ChrX:103040663 GRCh38: ChrX:103785734	PLP1, RAB9B	K53Q	Hereditary spastic paraplegia 2	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 93818996.	NM_000533.5(PLP1):c.85G>T (p.Val29Leu) GRCh37: ChrX:103040591 GRCh38: ChrX:103785662	RAB9B, PLP1	V29L	not provided, Hereditary spastic paraplegia 2	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86208297.	NM_000533.5(PLP1):c.560T>G (p.Ile187Ser) GRCh37: ChrX:103042833 GRCh38: ChrX:103787904	PLP1, RAB9B	I152S, I132S, I187S	Hereditary spastic paraplegia 2	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 83205498.	NC_000023.10:g.(?_102831398)_(103220942_?)dup GRCh37: ChrX:102831398-103220942	MORF4L2, PLP1, RAB9B, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B		Hereditary spastic paraplegia 2	Pathogenic (Apr 9, 2019)	criteria provided, single submitter
Select item 81789199.	NM_000533.5(PLP1):c.712_713insTGCAGTTCCAAATG (p.His238fs) GRCh37: ChrX:103044277-103044278 GRCh38: ChrX:103789348-103789349	PLP1, RAB9B	H238fs, H183fs, H203fs	not provided, Hereditary spastic paraplegia 2	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 700455100.	NM_000533.5(PLP1):c.799G>A (p.Val267Ile) GRCh37: ChrX:103045491 GRCh38: ChrX:103790563	PLP1, RAB9B	V232I, V267I, V212I	Hereditary spastic paraplegia 2	Likely benign (Mar 27, 2021)	criteria provided, single submitter

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