"Baylor Genetics"[submitter] AND "AP5Z1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030379	NM_014855.3(AP5Z1):c.57G>T (p.Glu19Asp)	AP5Z1 (E19D)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1033302	NM_014855.3(AP5Z1):c.158C>A (p.Ser53Ter)	AP5Z1 (S53*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 1030377	NM_014855.3(AP5Z1):c.179+1G>T	AP5Z1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 240943	NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	AP5Z1 (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030380	NM_014855.3(AP5Z1):c.715A>T (p.Asn239Tyr)	AP5Z1 (N239Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1033303	NM_014855.3(AP5Z1):c.880C>T (p.Arg294Trp)	AP5Z1 (R294W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1030381	NM_014855.3(AP5Z1):c.890C>G (p.Ala297Gly)	AP5Z1 (A141G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 240932	NM_014855.3(AP5Z1):c.1009C>T (p.Arg337Trp)	AP5Z1 (R337W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 856619	NM_014855.3(AP5Z1):c.1175T>C (p.Leu392Pro)	AP5Z1 (L236P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 375313	NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)	AP5Z1 (W441* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 48 +2 more	GPathogenic
Select item 412233	NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)	AP5Z1 (K525Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GConflicting classifications of pathogenicity
Select item 1030378	NM_014855.3(AP5Z1):c.1949T>G (p.Ile650Ser)	AP5Z1 (I650S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 424688	NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)	AP5Z1 (R685C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 834321	NM_014855.3(AP5Z1):c.2407G>A (p.Gly803Ser)	AP5Z1 (G803S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance