PLP1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244238	NC_000023.10:g.(?_103031924)_(103044347_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GUncertain significance
Select item 3244227	NC_000023.10:g.(?_103045435)_(103045526_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GUncertain significance
Select item 2423248	NC_000023.10:g.(?_103040922)_(103042832_?)del	PLP1	Deletion	Hereditary spastic paraplegia 2	GPathogenic
Select item 2423247	NC_000023.10:g.(?_103031924)_(103040717_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GUncertain significance
Select item 2423246	NC_000023.10:g.(?_103042707)_(103045526_?)del	PLP1	Deletion	Hereditary spastic paraplegia 2	GPathogenic
Select item 2423244	NC_000023.10:g.(?_103031924)_(103045526_?)del	PLP1	Deletion	Hereditary spastic paraplegia 2	GPathogenic
Select item 1458915	NC_000023.10:g.(?_103031003)_(103031929_?)del	PLP1	Deletion	Hereditary spastic paraplegia 2	GPathogenic
Select item 1068867	NC_000023.10:g.(?_103031924)_(103045526_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GPathogenic
Select item 872031	GRCh37/hg19 Xq22.2(chrX:103031924-103044327)x1	PLP1	Copy number loss	not provided	GPathogenic
Select item 691851	GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x1	PLP1	Copy number loss	Spastic Paraplegia 2, mild, late onset	GPathogenic
Select item 691850	GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x0	PLP1	Copy number loss	Hereditary spastic paraplegia 2	GPathogenic
Select item 660146	NC_000023.10:g.(?_103031893)_(103045536_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GPathogenic
Select item 655751	NC_000023.10:g.(?_103031893)_(103045546_?)del	PLP1	Deletion	Hereditary spastic paraplegia 2	GPathogenic
Select item 533385	NC_000023.10:g.(?_103031893)_(103045546_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GPathogenic
Select item 417363	NC_000023.10:g.(?_103031754)_(103047548_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GPathogenic
Select item 267338	NC_000023.10:g.(?_103031918)_(103045531_?)dup	PLP1	Duplication	Hereditary spastic paraplegia 2	GPathogenic
Select item 253460	GRCh37/hg19 Xq22.2(chrX:103031174-103046823)x0	PLP1	Copy number loss	See cases	GPathogenic