C3150901[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339197	NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn)	AP5Z1 (T11N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 974861	NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)	AP5Z1 (R155* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 701341	NM_014855.3(AP5Z1):c.969+3_969+6dup	AP5Z1	Duplication (splice donor variant)	Hereditary spastic paraplegia 48	GConflicting classifications of pathogenicity
Select item 650737	NM_014855.3(AP5Z1):c.970-2_983del	AP5Z1	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 2003966	NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val)	AP5Z1 (L330V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 705050	NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GConflicting classifications of pathogenicity
Select item 2688583	NM_014855.3(AP5Z1):c.1091T>C (p.Val364Ala)	AP5Z1 (V208A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1323294	NM_014855.3(AP5Z1):c.1323G>A (p.Trp441Ter)	AP5Z1 (W285* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 1383620	NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His)	AP5Z1 (R392H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2148791	NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met)	AP5Z1 (V664M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1303478	NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu)	AP5Z1 (F514L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 471497	NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys)	AP5Z1 (E741K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance