Related gene-specific medical variations for Gene (Select 9907) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341142	NM_014855.3(AP5Z1):c.41+780_971del	AP5Z1	Deletion (splice acceptor variant +2 more)	not provided	GLikely pathogenic
Select item 3065570	NM_014855.3(AP5Z1):c.2122C>A (p.Leu708Met)	AP5Z1 (L552M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
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 disorder	GLikely benign
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 2684361	NM_014855.3(AP5Z1):c.553C>T (p.Arg185Cys)	AP5Z1 (R185C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684357	NM_014855.3(AP5Z1):c.1767dup (p.Leu590fs)	AP5Z1 (L434fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2164278	NM_014855.3(AP5Z1):c.41+9G>A	AP5Z1, LOC129997861	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2141185	NM_014855.3(AP5Z1):c.41+8_41+9del	AP5Z1, LOC129997861	Deletion (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2068699	NM_014855.3(AP5Z1):c.41+15C>T	AP5Z1, LOC129997861	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 1945171	NM_014855.3(AP5Z1):c.41+5G>T	AP5Z1, LOC129997861	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1428396	NM_014855.3(AP5Z1):c.8C>T (p.Ser3Leu)	AP5Z1, LOC129997861 (S3L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	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 1256232	NM_014855.3(AP5Z1):c.37G>C (p.Ala13Pro)	AP5Z1, LOC129997861 (A13P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1256231	NM_014855.3(AP5Z1):c.2167C>T (p.Leu723=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1256229	NM_014855.3(AP5Z1):c.2018C>T (p.Ala673Val)	AP5Z1 (A517V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1256228	NM_014855.3(AP5Z1):c.1795G>T (p.Gly599Cys)	AP5Z1 (G443C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1067378	NC_000007.13:g.(?_4816199)_4825153del	AP5Z1	Deletion	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 994977	NM_014855.3(AP5Z1):c.327C>T (p.Ser109=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 994976	NM_014855.3(AP5Z1):c.1618C>T (p.Leu540=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 994975	NM_014855.3(AP5Z1):c.1551T>C (p.Leu517=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 989049	NM_014855.3(AP5Z1):c.1939-1G>A	AP5Z1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 48	GPathogenic
Select item 989048	NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs)	AP5Z1 (N421fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 989047	NM_014855.3(AP5Z1):c.1596-3C>G	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GPathogenic
Select item 989046	NM_014855.3(AP5Z1):c.1323del (p.Ala440_Trp441insTer)	AP5Z1	Deletion (nonsense +1 more)	Hereditary spastic paraplegia 48	GPathogenic
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
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 908209	NM_014855.3(AP5Z1):c.*1386C>T	AP5Z1, LOC129997865	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 908139	NM_014855.3(AP5Z1):c.*880C>T	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
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 842736	NM_014855.3(AP5Z1):c.22A>C (p.Ser8Arg)	AP5Z1, LOC129997861 (S8R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 585436	NM_014855.3(AP5Z1):c.-1G>C	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 360371	NM_014855.3(AP5Z1):c.*953T>C	LOC129997864, AP5Z1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 360369	NM_014855.3(AP5Z1):c.*921del	AP5Z1, LOC129997864	Deletion (3 prime UTR variant +1 more)	Spastic Paraplegia, Recessive	GLikely benign
Select item 360368	NM_014855.3(AP5Z1):c.*910G>A	AP5Z1, LOC129997864	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	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 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 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 360304	NM_014855.3(AP5Z1):c.-3G>A	AP5Z1, LOC129997861	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 48 +2 more	GBenign/Likely benign

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Links from Gene

Items: 39