"AP5Z1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360304	NM_014855.3(AP5Z1):c.-3G>A	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3045996	NM_014855.3(AP5Z1):c.33C>T (p.His11=)	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +2 more)	AP5Z1-related condition	GLikely benign
Select item 360305	NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)	AP5Z1 (A87T)	Single nucleotide variant (missense variant +2 more)	AP5Z1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1636826	NM_014855.3(AP5Z1):c.366+9G>A	AP5Z1	Single nucleotide variant (intron variant)	AP5Z1-related condition +1 more	GLikely benign
Select item 240943	NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	AP5Z1 (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	AP5Z1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3035378	NM_014855.3(AP5Z1):c.498C>T (p.Gly166=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition	GLikely benign
Select item 3058602	NM_014855.3(AP5Z1):c.591C>T (p.Gly197=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition	GLikely benign
Select item 1161890	NM_014855.3(AP5Z1):c.675G>C (p.Val225=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition +1 more	GLikely benign
Select item 240944	NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 700854	NM_014855.3(AP5Z1):c.931+10C>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48 +1 more	GLikely benign
Select item 538864	NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2003975	NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 360325	NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 698666	NM_014855.3(AP5Z1):c.1434G>A (p.Ala478=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GBenign/Likely benign
Select item 1599906	NM_014855.3(AP5Z1):c.1566G>T (p.Leu522=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GBenign/Likely benign
Select item 3057976	NM_014855.3(AP5Z1):c.1590T>G (p.Thr530=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition	GLikely benign
Select item 360337	NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 360340	NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)	AP5Z1 (V646M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GConflicting classifications of pathogenicity
Select item 2634656	NM_014855.3(AP5Z1):c.1938+7C>T	AP5Z1	Single nucleotide variant (intron variant)	AP5Z1-related condition	GUncertain significance
Select item 696581	NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)	AP5Z1 (T613A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 1080493	NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His)	AP5Z1 (R636H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +3 more	GConflicting classifications of pathogenicity
Select item 240941	NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	AP5Z1-related condition +3 more	GConflicting classifications of pathogenicity

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Items: 22