ClinVar for MedGen (Select 61440) - ClinVar

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Items: 59

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 24433142.	NM_000533.5(PLP1):c.505T>C (p.Cys169Arg) GRCh37: ChrX:103042778 GRCh38: ChrX:103787849	PLP1, RAB9B	C114R, C134R, C169R	Pelizaeus-Merzbacher disease	Likely pathogenic	criteria provided, single submitter
Select item 24316163.	NM_000533.5(PLP1):c.4+5G>A GRCh37: ChrX:103031932 GRCh38: ChrX:103777004	PLP1, RAB9B		Pelizaeus-Merzbacher disease	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 18785144.	NM_000533.5(PLP1):c.754del (p.Val252fs) GRCh37: ChrX:103044318 GRCh38: ChrX:103789389	PLP1, RAB9B	V197fs, V217fs, V252fs	Pelizaeus-Merzbacher disease, not provided	Pathogenic/Likely pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18107575.	Single allele GRCh38: ChrX:103734669-104059025	H2BW1, H2BW2, LOC126863297, PLP1, RAB9B, TMSB15B, TMSB15B-AS1		Pelizaeus-Merzbacher disease	Uncertain significance (Jan 6, 2023)	criteria provided, single submitter
Select item 16990736.	NM_000533.5(PLP1):c.226G>C (p.Ala76Pro) GRCh37: ChrX:103041428 GRCh38: ChrX:103786499	PLP1, RAB9B	A21P, A76P	Pelizaeus-Merzbacher disease	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 16918517.	NM_000533.5(PLP1):c.74G>T (p.Cys25Phe) GRCh37: ChrX:103040580 GRCh38: ChrX:103785651	PLP1, RAB9B	C25F	Pelizaeus-Merzbacher disease	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 16860848.	NM_000533.5(PLP1):c.665C>G (p.Ser222Cys) GRCh37: ChrX:103043408 GRCh38: ChrX:103788479	PLP1, RAB9B	S167C, S187C, S222C	Pelizaeus-Merzbacher disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 14792359.	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 141067510.	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 134446611.	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 133898212.	NM_000533.5(PLP1):c.762+1G>A GRCh37: ChrX:103044328 GRCh38: ChrX:103789399	PLP1, RAB9B		Pelizaeus-Merzbacher disease	Uncertain significance	criteria provided, single submitter
Select item 133328113.	NM_000533.5(PLP1):c.543G>C (p.Trp181Cys) GRCh37: ChrX:103042816 GRCh38: ChrX:103787887	PLP1, RAB9B	W126C, W146C, W181C	Pelizaeus-Merzbacher disease	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 132742514.	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 107718815.	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 102882116.	NM_000533.5(PLP1):c.454-20C>A GRCh37: ChrX:103042707 GRCh38: ChrX:103787778	PLP1, RAB9B		Pelizaeus-Merzbacher disease	Uncertain significance (Apr 5, 2019)	criteria provided, single submitter
Select item 102882017.	NM_000533.5(PLP1):c.21T>A (p.Cys7Ter) GRCh37: ChrX:103040527 GRCh38: ChrX:103785598	PLP1, RAB9B	C7*	Pelizaeus-Merzbacher disease	Pathogenic (Jan 23, 2020)	criteria provided, single submitter
Select item 93133818.	NM_000533.5(PLP1):c.743C>A (p.Ala248Glu) GRCh37: ChrX:103044308 GRCh38: ChrX:103789379	PLP1, RAB9B	A193E, A213E, A248E	Pelizaeus-Merzbacher disease	Likely pathogenic (Nov 28, 2018)	criteria provided, single submitter
Select item 93047819.	NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys) GRCh37: ChrX:103040679 GRCh38: ChrX:103785750	PLP1, RAB9B	Y58C, Y3C	Pelizaeus-Merzbacher disease	Pathogenic (Apr 4, 2019)	criteria provided, single submitter
Select item 81670720.	NM_000533.5(PLP1):c.454-312C>G GRCh37: ChrX:103042415 GRCh38: ChrX:103787486	PLP1, RAB9B		Pelizaeus-Merzbacher disease	not provided	no assertion provided
Select item 81670621.	NM_000533.5(PLP1):c.453+164G>A GRCh37: ChrX:103041819 GRCh38: ChrX:103786890	PLP1, RAB9B		Pelizaeus-Merzbacher disease	not provided	no assertion provided
Select item 81670522.	NM_000533.5(PLP1):c.453+159G>A GRCh37: ChrX:103041814 GRCh38: ChrX:103786885	PLP1, RAB9B		Pelizaeus-Merzbacher disease	not provided	no assertion provided
Select item 81662823.	NM_000533.5(PLP1):c.709T>G (p.Phe237Val) GRCh37: ChrX:103044274 GRCh38: ChrX:103789345	PLP1, RAB9B	F182V, F237V, F202V	Pelizaeus-Merzbacher disease	Likely pathogenic (Feb 10, 2020)	criteria provided, single submitter
Select item 80406824.	NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) GRCh37: ChrX:103042824 GRCh38: ChrX:103787895	PLP1, RAB9B	C184Y, C129Y, C149Y	Pelizaeus-Merzbacher disease	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80406725.	NM_000533.5(PLP1):c.295C>T (p.Gln99Ter) GRCh37: ChrX:103041497 GRCh38: ChrX:103786568	RAB9B, PLP1	Q44, Q99	Pelizaeus-Merzbacher disease	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 63534226.	NM_020435.4(GJC2):c.591dup (p.His198fs) GRCh37: Chr1:228346048-228346049 GRCh38: Chr1:228158347-228158348	GJC2	H198fs	Spastic paraplegia, Pelizaeus-Merzbacher disease	Pathogenic/Likely pathogenic (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62628127.	NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) GRCh37: ChrX:103040610 GRCh38: ChrX:103785681	PLP1, RAB9B	C35Y	not provided	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 62330328.	NM_020435.4(GJC2):c.-20G>C GRCh37: Chr1:228337708 GRCh38: Chr1:228150007	GJC2		Pelizaeus-Merzbacher disease	Uncertain significance (Dec 30, 2017)	no assertion criteria provided
Select item 56109029.	NM_000533.5(PLP1):c.677C>G (p.Ser226Cys) GRCh37: ChrX:103043420 GRCh38: ChrX:103788491	PLP1, RAB9B	S226C, S191C, S171C	Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter
Select item 56108930.	NM_000533.5(PLP1):c.41C>A (p.Ala14Asp) GRCh37: ChrX:103040547 GRCh38: ChrX:103785618	PLP1, RAB9B	A14D	Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter
Select item 56108831.	NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) GRCh37: ChrX:103040672 GRCh38: ChrX:103785743	PLP1, RAB9B	Q56*	Pelizaeus-Merzbacher disease	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 54775432.	NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) GRCh37: ChrX:103042791 GRCh38: ChrX:103787862	PLP1, RAB9B	P173R, P118R, P138R	Pelizaeus-Merzbacher disease	Uncertain significance (Nov 1, 2016)	criteria provided, single submitter
Select item 54543733.	NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) GRCh37: ChrX:103043401 GRCh38: ChrX:103788472	PLP1, RAB9B	C220G, C165G, C185G	Intellectual disability, Pelizaeus-Merzbacher disease	Likely pathogenic (Apr 20, 2020)	criteria provided, multiple submitters, no conflicts
Select item 52058634.	NM_000533.5(PLP1):c.354_355del (p.Gly120fs) GRCh37: ChrX:103041556-103041557 GRCh38: ChrX:103786627-103786628	PLP1, RAB9B	G65fs, G120fs	Inborn genetic diseases, not provided, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Pathogenic (Jan 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50369135.	NM_000533.5(PLP1):c.453+2T>C GRCh37: ChrX:103041657 GRCh38: ChrX:103786728	PLP1, RAB9B		not provided	Pathogenic (Aug 31, 2018)	criteria provided, single submitter
Select item 49668336.	NM_000533.5(PLP1):c.617T>G (p.Met206Arg) GRCh37: ChrX:103042890 GRCh38: ChrX:103787961	PLP1, RAB9B	M206R, M151R, M171R	Pelizaeus-Merzbacher disease	Likely pathogenic (Nov 21, 2016)	criteria provided, single submitter
Select item 43170137.	NM_000533.5(PLP1):c.384_393del (p.Gln129fs) GRCh37: ChrX:103041586-103041595 GRCh38: ChrX:103786657-103786666	PLP1, RAB9B	Q129fs, Q74fs	Pelizaeus-Merzbacher disease	Pathogenic	criteria provided, single submitter
Select item 40594138.	NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) GRCh37: ChrX:103040646 GRCh38: ChrX:103785717	PLP1, RAB9B	I47T	Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 39751339.	NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) GRCh37: ChrX:103040681 GRCh38: ChrX:103785752	PLP1, RAB9B	E59, E4	Pelizaeus-Merzbacher disease	Pathogenic (Jul 11, 2016)	criteria provided, single submitter
Select item 22065840.	NM_000533.5(PLP1):c.-31C>T GRCh37: ChrX:103031893 GRCh38: ChrX:103776965	RAB9B, PLP1		Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, not provided	Benign/Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21191641.	NM_000533.5(PLP1):c.49G>A (p.Ala17Thr) GRCh37: ChrX:103040555 GRCh38: ChrX:103785626	PLP1, RAB9B	A17T	not provided, not specified, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2	Uncertain significance (Aug 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20918342.	NM_000533.5(PLP1):c.1A>G (p.Met1Val) GRCh37: ChrX:103031924 GRCh38: ChrX:103776996	PLP1, RAB9B	M1V	Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease	Pathogenic (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12997543.	NM_000533.5(PLP1):c.168A>G (p.Gln56=) GRCh37: ChrX:103040674 GRCh38: ChrX:103785745	PLP1, RAB9B		Inborn genetic diseases, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, not provided, not specified, Hereditary spastic paraplegia 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9323244.	NM_000533.5(PLP1):c.609T>C (p.Asp203=) GRCh37: ChrX:103042882 GRCh38: ChrX:103787953	PLP1, RAB9B		Inborn genetic diseases, not provided, Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1109945.	NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr) GRCh37: ChrX:103040675 GRCh38: ChrX:103785746	PLP1, RAB9B	D57Y	Pelizaeus-Merzbacher disease	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 1109646.	NM_000533.5(PLP1):c.453+4A>G GRCh37: ChrX:103041659 GRCh38: ChrX:103786730	RAB9B, PLP1		Pelizaeus-Merzbacher disease	Pathogenic (Oct 24, 2000)	no assertion criteria provided
Select item 1109447.	NM_000533.5(PLP1):c.762+3G>T GRCh37: ChrX:103044330 GRCh38: ChrX:103789401	RAB9B, PLP1		Pelizaeus-Merzbacher disease	Pathogenic (Oct 24, 2000)	no assertion criteria provided
Select item 1109348.	NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup GRCh38: ChrX:103477300-104817980	ESX1, H2BW2, FAM199X, H2BW1, IL1RAPL2, LINC02589, LL0XNC01-250H12.3, LOC113845781, LOC126863296, LOC126863297, LOC286437, MORF4L2, MORF4L2-AS1, PLP1, RAB40A, RAB9B, SLC25A53, TCEAL1, TCEAL3, TCEAL4, TMEM31, TMSB15B, TMSB15B-AS1, TMSB15C, ZCCHC18		Pelizaeus-Merzbacher disease	Pathogenic (Apr 1, 2003)	no assertion criteria provided
Select item 1108649.	NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) GRCh37: ChrX:103040634 GRCh38: ChrX:103785705	RAB9B, PLP1	T43I	Pelizaeus-Merzbacher disease	Pathogenic (Jul 31, 1995)	no assertion criteria provided
Select item 1108250.	NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) GRCh37: ChrX:103041422 GRCh38: ChrX:103786493	PLP1, RAB9B	G74R, G19R	Pelizaeus-Merzbacher disease	Pathogenic (Jul 1, 1992)	no assertion criteria provided
Select item 1108151.	NM_000533.5(PLP1):c.607G>C (p.Asp203His) GRCh37: ChrX:103042880 GRCh38: ChrX:103787951	RAB9B, PLP1	D168H, D203H, D148H	Pelizaeus-Merzbacher disease	Pathogenic (Jul 1, 1992)	no assertion criteria provided
Select item 1108052.	NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) GRCh37: ChrX:103043414 GRCh38: ChrX:103788485	RAB9B, PLP1	L189P, L224P, L169P	Pelizaeus-Merzbacher disease	Pathogenic (Oct 1, 1992)	no assertion criteria provided
Select item 1107953.	NM_000533.5(PLP1):c.544A>C (p.Thr182Pro) GRCh37: ChrX:103042817 GRCh38: ChrX:103787888	PLP1, RAB9B	T147P, T182P, T127P	Pelizaeus-Merzbacher disease	Pathogenic (Oct 1, 1992)	no assertion criteria provided
Select item 1107854.	NC_000023.11:g.(?_103776506)_(103799000_104817980)del GRCh38: ChrX:103776506-104817980	FAM199X, H2BW1, ESX1, H2BW2, IL1RAPL2, LOC126863297, LOC286437, PLP1, RAB9B, SLC25A53, TMSB15B, TMSB15B-AS1, TMSB15C, ZCCHC18		Pelizaeus-Merzbacher disease	Pathogenic (Dec 1, 1991)	no assertion criteria provided
Select item 1107755.	NM_000533.5(PLP1):c.655G>T (p.Val219Phe) GRCh37: ChrX:103043398 GRCh38: ChrX:103788469	RAB9B, PLP1	V184F, V219F, V164F	Pelizaeus-Merzbacher disease	Pathogenic (Sep 1, 1991)	no assertion criteria provided
Select item 1107656.	NM_000533.5(PLP1):c.467C>T (p.Thr156Ile) GRCh37: ChrX:103042740 GRCh38: ChrX:103787811	RAB9B, PLP1	T121I, T156I, T101I	Pelizaeus-Merzbacher disease	Pathogenic (Jan 1, 1991)	no assertion criteria provided
Select item 1107557.	NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) GRCh37: ChrX:103040550 GRCh38: ChrX:103785621	PLP1, RAB9B	P15L	Hereditary spastic paraplegia 2	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 1107458.	NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) GRCh37: ChrX:103042760 GRCh38: ChrX:103787831	PLP1, RAB9B	W128R, W163R, W108R	not provided	Likely pathogenic (Sep 18, 2012)	criteria provided, single submitter
Select item 1107359.	NM_000533.5(PLP1):c.646C>T (p.Pro216Ser) GRCh37: ChrX:103043389 GRCh38: ChrX:103788460	RAB9B, PLP1	P181S, P216S, P161S	not provided	Pathogenic (Sep 28, 2012)	criteria provided, single submitter

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Items: 59