"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219058	Single allele	LOC129933453, LOC129933454 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219095	Single allele	DPY30, LOC129933452 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219076	Single allele	LOC129933454, LOC129933455 +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219071	Single allele	LOC129933454, LOC129933455 +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219063	Single allele	LOC129933454, LOC129933455 +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219074	NC_000002.12:g.32063148_32067182del	LOC129933454, LOC129933455 +1 more	Deletion (genic upstream transcript variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219086	Single allele	LOC129933455, SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 5674	NM_014946.4(SPAST):c.-112_415+1779del	LOC129933455, SPAST	Deletion (splice donor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219070	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219079	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219064	Single allele	NLRC4, SLC30A6 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219066	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219075	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219089	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219061	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219093	Single allele	LOC129388840, LOC129933456 +3 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219059	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219072	NM_014946.4(SPAST):c.683-7033_1004+30del	SPAST	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219080	NM_014946.4(SPAST):c.683-1277_870+399del	SPAST	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219090	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219091	NM_014946.4(SPAST):c.690_1099-4223del	SPAST	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219067	NM_014946.4(SPAST):c.871-368_1098+4142del	SPAST	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219062	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219077	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219088	NM_014946.4(SPAST):c.1099-1062_1246-1342del	SPAST	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219092	NM_014946.4(SPAST):c.1099-956_1246-1672del	SPAST	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219081	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219069	NM_014946.4(SPAST):c.1174-270_1246-1724dup	SPAST	Duplication (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219065	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219094	NM_014946.4(SPAST):c.1246-2897_1493+523dup	SPAST	Duplication (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219082	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219084	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219056	NM_014946.4(SPAST):c.1494-1393_1688-466dup	SPAST	Duplication (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219078	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219068	NM_014946.4(SPAST):c.1688-378_1728+1541del	SPAST	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219049	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219085	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219055	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219083	Single allele	SLC30A6-DT, SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219048	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219051	Single allele	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219073	NM_014946.4(SPAST):c.1729-3331_*1641del	SPAST	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219053	NM_014946.4(SPAST):c.1729-884_*1715del	SPAST	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 219052	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219054	Single allele	SLC30A6, SLC30A6-DT +1 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219050	NC_000002.12:g.32153843_32159343del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219087	Single allele	YIPF4, BIRC6 +5 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219060	Single allele	SLC30A6, YIPF4 +3 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 219057	Single allele	YIPF4, BIRC6 +4 more	Deletion	Hereditary spastic paraplegia 4	GPathogenic

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Items: 49