ClinVar for MedGen (Select 462251) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234899	NM_014855.3(AP5Z1):c.502del (p.Leu168fs)	AP5Z1 (L12fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 48	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 3017543	NM_014855.3(AP5Z1):c.1939-5C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 3017542	NM_014855.3(AP5Z1):c.1939-6del	AP5Z1	Deletion (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 3016339	NM_014855.3(AP5Z1):c.2154-16G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 3001727	NM_014855.3(AP5Z1):c.1893C>T (p.Gly631=)	AP5Z1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2997932	NM_014855.3(AP5Z1):c.2079del (p.Gln696fs)	AP5Z1 (Q540fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 2974856	NM_014855.3(AP5Z1):c.970-2A>G	AP5Z1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 2955761	NM_014855.3(AP5Z1):c.1137A>G (p.Glu379=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2916093	NM_014855.3(AP5Z1):c.480C>T (p.Val160=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2913559	NM_014855.3(AP5Z1):c.960G>C (p.Leu320=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2910951	NM_014855.3(AP5Z1):c.1455-15C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2907191	NM_014855.3(AP5Z1):c.2283T>G (p.Pro761=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2902044	NM_014855.3(AP5Z1):c.1020G>T (p.Pro340=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2899154	NM_014855.3(AP5Z1):c.929G>C (p.Arg310Pro)	AP5Z1 (R154P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2888708	NM_014855.3(AP5Z1):c.969+17C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2888176	NM_014855.3(AP5Z1):c.2253C>T (p.Ala751=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2885380	NM_014855.3(AP5Z1):c.1939-16_1939-15del	AP5Z1	Microsatellite (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2884149	NM_014855.3(AP5Z1):c.932-12C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2862358	NM_014855.3(AP5Z1):c.2130C>A (p.Ser710=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2862357	NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter)	AP5Z1 (E496* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 2860935	NM_014855.3(AP5Z1):c.2043C>T (p.Val681=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2857402	NM_014855.3(AP5Z1):c.2088G>A (p.Gln696=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2853414	NM_014855.3(AP5Z1):c.1509_1595+26del	AP5Z1	Deletion (splice donor variant)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 2853047	NM_014855.3(AP5Z1):c.704del (p.Asp235fs)	AP5Z1 (D235fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 2835696	NM_014855.3(AP5Z1):c.1260G>T (p.Leu420=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2831183	NM_014855.3(AP5Z1):c.1474G>C (p.Glu492Gln)	AP5Z1 (E336Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2821216	NM_014855.3(AP5Z1):c.511+8G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2806039	NM_014855.3(AP5Z1):c.438G>A (p.Glu146=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2805777	NM_014855.3(AP5Z1):c.1596-20C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2804585	NM_014855.3(AP5Z1):c.2154-5C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2804223	NM_014855.3(AP5Z1):c.1088C>T (p.Ser363Phe)	AP5Z1 (S363F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2803153	NM_014855.3(AP5Z1):c.791-6C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2784363	NM_014855.3(AP5Z1):c.931+15del	AP5Z1	Deletion (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2779305	NM_014855.3(AP5Z1):c.1566G>A (p.Leu522=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2772422	NM_014855.3(AP5Z1):c.495G>A (p.Pro165=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2769626	NM_014855.3(AP5Z1):c.1938+12G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2754478	NM_014855.3(AP5Z1):c.1506C>A (p.Ala502=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2750254	NM_014855.3(AP5Z1):c.1301A>G (p.Asn434Ser)	AP5Z1 (N278S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2742330	NM_014855.3(AP5Z1):c.2097C>T (p.Thr699=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2732071	NM_014855.3(AP5Z1):c.932-19C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2730761	NM_014855.3(AP5Z1):c.2268C>T (p.Thr756=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2729496	NM_014855.3(AP5Z1):c.873G>A (p.Glu291=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2728608	NM_014855.3(AP5Z1):c.1938+18C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2727833	NM_014855.3(AP5Z1):c.1805+8C>G	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2727545	NM_014855.3(AP5Z1):c.615C>T (p.Ala205=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2726400	NM_014855.3(AP5Z1):c.366+19C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2725929	NM_014855.3(AP5Z1):c.822G>C (p.Leu274=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2723817	NM_014855.3(AP5Z1):c.927C>T (p.Asn309=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2718805	NM_014855.3(AP5Z1):c.2406C>T (p.Ala802=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2718213	NM_014855.3(AP5Z1):c.2391G>A (p.Leu797=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2716573	NM_014855.3(AP5Z1):c.1806-1G>C	AP5Z1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 2714676	NM_014855.3(AP5Z1):c.970-13C>G	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2712603	NM_014855.3(AP5Z1):c.1926C>T (p.Leu642=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2705089	NM_014855.3(AP5Z1):c.1595+17C>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2704364	NM_014855.3(AP5Z1):c.1133-15dup	AP5Z1	Duplication (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2702150	NM_014855.3(AP5Z1):c.1741C>T (p.Leu581=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2695234	NM_014855.3(AP5Z1):c.1124T>C (p.Leu375Pro)	AP5Z1 (L219P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
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 2505272	NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter)	AP5Z1 (Q13* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 2419903	NM_014855.3(AP5Z1):c.1505C>T (p.Ala502Val)	AP5Z1 (A346V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2419716	NM_014855.3(AP5Z1):c.2355G>A (p.Thr785=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2416876	NM_014855.3(AP5Z1):c.2394G>T (p.Val798=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2414395	NM_014855.3(AP5Z1):c.1606C>T (p.Leu536Phe)	AP5Z1 (L380F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2413828	NM_014855.3(AP5Z1):c.487C>T (p.Leu163Phe)	AP5Z1 (L163F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2413360	NM_014855.3(AP5Z1):c.2220C>T (p.Ser740=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2288799	NM_014855.3(AP5Z1):c.1707+1G>A	AP5Z1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 48 +1 more	GLikely pathogenic
Select item 2203611	NM_014855.3(AP5Z1):c.1374G>A (p.Val458=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2201018	NM_014855.3(AP5Z1):c.511+9G>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2199994	NM_014855.3(AP5Z1):c.1674G>A (p.Thr558=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2199636	NM_014855.3(AP5Z1):c.2184C>T (p.Thr728=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2198394	NM_014855.3(AP5Z1):c.2198C>T (p.Pro733Leu)	AP5Z1 (P577L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2198079	NM_014855.3(AP5Z1):c.682A>G (p.Ser228Gly)	AP5Z1 (S228G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2198047	NM_014855.3(AP5Z1):c.2145G>A (p.Leu715=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2197129	NM_014855.3(AP5Z1):c.952T>G (p.Ser318Ala)	AP5Z1 (S318A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2196889	NM_014855.3(AP5Z1):c.2312G>A (p.Ser771Asn)	AP5Z1 (S771N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2195422	NM_014855.3(AP5Z1):c.526C>G (p.Leu176Val)	AP5Z1 (L176V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2195349	NM_014855.3(AP5Z1):c.1433C>T (p.Ala478Val)	AP5Z1 (A322V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2194408	NM_014855.3(AP5Z1):c.559G>A (p.Ala187Thr)	AP5Z1 (A187T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2193149	NM_014855.3(AP5Z1):c.2301G>A (p.Val767=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GBenign
Select item 2193063	NM_014855.3(AP5Z1):c.2154-18G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2189152	NM_014855.3(AP5Z1):c.913A>C (p.Ile305Leu)	AP5Z1 (I305L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2186934	NM_014855.3(AP5Z1):c.466G>A (p.Val156Ile)	AP5Z1 (V156I)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2185766	NM_014855.3(AP5Z1):c.1955A>G (p.Glu652Gly)	AP5Z1 (E496G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2185172	NM_014855.3(AP5Z1):c.1707+16G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2184090	NM_014855.3(AP5Z1):c.954C>T (p.Ser318=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2183496	NM_014855.3(AP5Z1):c.2379G>A (p.Thr793=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2179720	NM_014855.3(AP5Z1):c.1707+11_1707+12delinsCC	AP5Z1	Indel (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2176735	NM_014855.3(AP5Z1):c.362C>T (p.Ala121Val)	AP5Z1 (A121V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 2176474	NM_014855.3(AP5Z1):c.2396A>G (p.Glu799Gly)	AP5Z1 (E799G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2173725	NM_014855.3(AP5Z1):c.180-16G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2170111	NM_014855.3(AP5Z1):c.1201T>C (p.Phe401Leu)	AP5Z1 (F245L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2170086	NM_014855.3(AP5Z1):c.2153+13G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2167513	NM_014855.3(AP5Z1):c.1385C>T (p.Thr462Ile)	AP5Z1 (T462I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2165570	NM_014855.3(AP5Z1):c.2214G>A (p.Thr738=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2165442	NM_014855.3(AP5Z1):c.1766C>G (p.Ser589Trp)	AP5Z1 (S589W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2162513	NM_014855.3(AP5Z1):c.1897G>A (p.Val633Met)	AP5Z1 (V633M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 2157609	NM_014855.3(AP5Z1):c.546C>T (p.Asp182=)	AP5Z1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2156277	NM_014855.3(AP5Z1):c.1708-6C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign

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