AP5Z1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262704	NC_000007.14:g.4775417G>A	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 1189725	NC_000007.14:g.4775436C>A	AP5Z1	Single nucleotide variant	not provided	GLikely benign
Select item 1295673	NC_000007.14:g.4775501G>A	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 1226774	NC_000007.14:g.4775504C>A	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 1280574	NC_000007.14:g.4775532T>G	AP5Z1	Single nucleotide variant	not provided	GBenign
Select item 360303	NM_014855.3(AP5Z1):c.-68G>T	AP5Z1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 910638	NM_014855.3(AP5Z1):c.-26C>T	AP5Z1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1599917	NM_014855.3(AP5Z1):c.41+16G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GBenign
Select item 1988936	NM_014855.3(AP5Z1):c.41+19C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 1244760	NM_014855.3(AP5Z1):c.41+141T>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276003	NM_014855.3(AP5Z1):c.41+216T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214029	NM_014855.3(AP5Z1):c.41+232T>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252686	NM_014855.3(AP5Z1):c.41+285C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3341142	NM_014855.3(AP5Z1):c.41+780_971del	AP5Z1	Deletion (splice acceptor variant +2 more)	not provided	GLikely pathogenic
Select item 579773	NM_014855.3(AP5Z1):c.41+812_970del	AP5Z1	Deletion (splice acceptor variant +2 more)	Hereditary spastic paraplegia 48	GLikely pathogenic
Select item 1293085	NM_014855.3(AP5Z1):c.42-225T>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178374	NM_014855.3(AP5Z1):c.42-146C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202338	NM_014855.3(AP5Z1):c.42-144A>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207118	NM_014855.3(AP5Z1):c.42-77C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 855957	NM_014855.3(AP5Z1):c.42G>A (p.Arg14=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1458218	NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter)	AP5Z1 (Q17*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 804540	NM_014855.3(AP5Z1):c.54C>T (p.Asp18=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 546254	NM_014855.3(AP5Z1):c.55G>A (p.Glu19Lys)	AP5Z1 (E19K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 911863	NM_014855.3(AP5Z1):c.59A>T (p.Glu20Val)	AP5Z1 (E20V)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2041196	NM_014855.3(AP5Z1):c.62T>G (p.Leu21Arg)	AP5Z1 (L21R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2151423	NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)	AP5Z1 (K23*)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 3127598	NM_014855.3(AP5Z1):c.80G>T (p.Arg27Leu)	AP5Z1 (R27L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1418025	NM_014855.3(AP5Z1):c.80G>A (p.Arg27Gln)	AP5Z1 (R27Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2	NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)	AP5Z1	Indel (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 3127599	NM_014855.3(AP5Z1):c.83T>A (p.Ile28Asn)	AP5Z1 (I28N)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2154652	NM_014855.3(AP5Z1):c.98A>G (p.Gln33Arg)	AP5Z1 (Q33R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1344207	NM_014855.3(AP5Z1):c.107A>G (p.Asp36Gly)	AP5Z1 (D36G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344211	NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1154563	NM_014855.3(AP5Z1):c.120C>T (p.Asp40=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 446846	NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +2 more	GConflicting classifications of pathogenicity
Select item 412235	NM_014855.3(AP5Z1):c.127G>A (p.Asp43Asn)	AP5Z1 (D43N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 702067	NM_014855.3(AP5Z1):c.150C>T (p.Leu50=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2078407	NM_014855.3(AP5Z1):c.158C>T (p.Ser53Leu)	AP5Z1 (S53L)	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 1450688	NM_014855.3(AP5Z1):c.164C>T (p.Thr55Met)	AP5Z1 (T55M)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1344219	NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=)	AP5Z1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1443565	NM_014855.3(AP5Z1):c.172A>G (p.Ser58Gly)	AP5Z1 (S58G)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 804538	NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln)	AP5Z1 (R59Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
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 2085814	NM_014855.3(AP5Z1):c.179+3G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1570163	NM_014855.3(AP5Z1):c.179+15G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 1189602	NM_014855.3(AP5Z1):c.179+113T>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191766	NM_014855.3(AP5Z1):c.180-28C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986699	NM_014855.3(AP5Z1):c.180-19C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
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 697939	NM_014855.3(AP5Z1):c.180-9G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2581922	NM_014855.3(AP5Z1):c.180-3C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2033485	NM_014855.3(AP5Z1):c.180-3C>T	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1362956	NM_014855.3(AP5Z1):c.195C>G (p.Cys65Trp)	AP5Z1 (C65W)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 1105600	NM_014855.3(AP5Z1):c.195C>T (p.Cys65=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 2097827	NM_014855.3(AP5Z1):c.196G>A (p.Val66Ile)	AP5Z1 (V66I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1982107	NM_014855.3(AP5Z1):c.200A>T (p.Asp67Val)	AP5Z1 (D67V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 567257	NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs)	AP5Z1 (Q70fs)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia 48	GPathogenic
Select item 1506630	NM_014855.3(AP5Z1):c.209A>T (p.Gln70Leu)	AP5Z1 (Q70L)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 699305	NM_014855.3(AP5Z1):c.210G>A (p.Gln70=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 706952	NM_014855.3(AP5Z1):c.219C>T (p.Leu73=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 810058	NM_014855.3(AP5Z1):c.220G>A (p.Gly74Ser)	AP5Z1 (G74S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 911864	NM_014855.3(AP5Z1):c.238G>A (p.Glu80Lys)	AP5Z1 (E80K)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 538866	NM_014855.3(AP5Z1):c.258C>T (p.Cys86=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GLikely benign
Select item 360305	NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)	AP5Z1 (A87T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GConflicting classifications of pathogenicity
Select item 1933723	NM_014855.3(AP5Z1):c.262G>A (p.Ala88Thr)	AP5Z1 (A88T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 1344230	NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)	AP5Z1 (R91*)	Single nucleotide variant (nonsense +2 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 424695	NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln)	AP5Z1 (R91Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 128413	NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys)	AP5Z1 (S94C)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 1986576	NM_014855.3(AP5Z1):c.283C>T (p.Pro95Ser)	AP5Z1 (P95S)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +2 more	GUncertain significance
Select item 1344231	NM_014855.3(AP5Z1):c.295del (p.Leu99fs)	AP5Z1 (L99fs)	Deletion (frameshift variant +2 more)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344232	NM_014855.3(AP5Z1):c.299G>A (p.Ser100Asn)	AP5Z1 (S100N)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +1 more	GUncertain significance
Select item 848339	NM_014855.3(AP5Z1):c.302T>C (p.Leu101Pro)	AP5Z1 (L101P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360306	NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr)	AP5Z1 (H105Y)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2137291	NM_014855.3(AP5Z1):c.317C>T (p.Thr106Met)	AP5Z1 (T106M)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 2080613	NM_014855.3(AP5Z1):c.318G>C (p.Thr106=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 1083763	NM_014855.3(AP5Z1):c.318G>A (p.Thr106=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
Select item 698930	NM_014855.3(AP5Z1):c.324C>T (p.Asn108=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GLikely benign
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 938245	NM_014855.3(AP5Z1):c.328C>T (p.Arg110Trp)	AP5Z1 (R110W)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 240942	NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln)	AP5Z1 (R110Q)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 128414	NM_014855.3(AP5Z1):c.333G>C (p.Gln111His)	AP5Z1 (Q111H)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48 +3 more	GBenign/Likely benign
Select item 1344233	NM_014855.3(AP5Z1):c.343G>C (p.Val115Leu)	AP5Z1 (V115L)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 699595	NM_014855.3(AP5Z1):c.348C>T (p.Ala116=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 908917	NM_014855.3(AP5Z1):c.351C>T (p.Ser117=)	AP5Z1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 48	GConflicting classifications of pathogenicity
Select item 645155	NM_014855.3(AP5Z1):c.352G>A (p.Val118Ile)	AP5Z1 (V118I)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 446850	NM_014855.3(AP5Z1):c.355_358dup (p.Leu120fs)	AP5Z1 (L120fs)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1509763	NM_014855.3(AP5Z1):c.355C>G (p.Leu119Val)	AP5Z1 (L119V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 538858	NM_014855.3(AP5Z1):c.361G>A (p.Ala121Thr)	AP5Z1 (A121T)	Single nucleotide variant (missense variant +2 more)	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 939518	NM_014855.3(AP5Z1):c.366+4G>A	AP5Z1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 48	GUncertain significance
Select item 360307	NM_014855.3(AP5Z1):c.366+5C>T	AP5Z1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1636826	NM_014855.3(AP5Z1):c.366+9G>A	AP5Z1	Single nucleotide variant (intron variant)	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 1293087	NM_014855.3(AP5Z1):c.366+170G>A	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235736	NM_014855.3(AP5Z1):c.366+242C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263053	NM_014855.3(AP5Z1):c.367-310C>G	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243252	NM_014855.3(AP5Z1):c.367-305C>T	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226202	NM_014855.3(AP5Z1):c.367-169G>C	AP5Z1	Single nucleotide variant (intron variant)	not provided	GBenign

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