"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129997864" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908138	NM_014855.3(AP5Z1):c.*856G>A	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 908139	NM_014855.3(AP5Z1):c.*880C>T	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360365	NM_014855.3(AP5Z1):c.*896C>T	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360366	NM_014855.3(AP5Z1):c.*897G>A	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360367	NM_014855.3(AP5Z1):c.*901C>T	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 360368	NM_014855.3(AP5Z1):c.*910G>A	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360369	NM_014855.3(AP5Z1):c.*921del	AP5Z1, LOC129997864	Deletion (3 prime UTR variant +1 more)	Spastic Paraplegia, Recessive	GLikely benign
Select item 360370	NM_014855.3(AP5Z1):c.*922C>T	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 910086	NM_014855.3(AP5Z1):c.*940T>A	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360371	NM_014855.3(AP5Z1):c.*953T>C	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 910087	NM_014855.3(AP5Z1):c.*965C>G	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance