AP4B1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1961421	NM_001253852.3(AP4B1):c.612A>G (p.Leu204=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2148884	NM_001253852.3(AP4B1):c.602A>G (p.His201Arg)	AP4B1 (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 3127549	NM_001253852.3(AP4B1):c.598G>T (p.Ala200Ser)	AP4B1 (A200S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588807	NM_001253852.3(AP4B1):c.594C>T (p.Pro198=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GLikely benign
Select item 651428	NM_001253852.3(AP4B1):c.587A>G (p.Asn196Ser)	AP4B1 (N196S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2485281	NM_001253852.3(AP4B1):c.586A>C (p.Asn196His)	AP4B1 (N196H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 711010	NM_001253852.3(AP4B1):c.582C>G (p.Val194=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 581795	NM_001253852.3(AP4B1):c.579_581del (p.Val194del)	AP4B1 (V194del +1 more)	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 539526	NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile)	AP4B1 (V94I +1 more)	Indel (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 157724	NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	AP4B1 (V193I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 157723	NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 588790	NM_001253852.3(AP4B1):c.570A>G (p.Glu190=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1344485	NM_001253852.3(AP4B1):c.567G>A (p.Gln189=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2199153	NM_001253852.3(AP4B1):c.559C>A (p.Leu187Met)	AP4B1 (L187M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2413494	NM_001253852.3(AP4B1):c.529_531del (p.Val177del)	AP4B1 (V177del +1 more)	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 252668	NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)	AP4B1 (N178fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2151801	NM_001253852.3(AP4B1):c.521T>C (p.Ile174Thr)	AP4B1 (I75T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2091464	NM_001253852.3(AP4B1):c.512A>G (p.Gln171Arg)	AP4B1 (Q171R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1370084	NM_001253852.3(AP4B1):c.506G>A (p.Arg169His)	AP4B1 (R70H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1002684	NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser)	AP4B1 (R169S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1344775	NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)	AP4B1	Insertion (nonsense +1 more)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1743268	NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1742946	NM_001253852.3(AP4B1):c.476C>T (p.Ala159Val)	AP4B1 (A159V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1344483	NM_001253852.3(AP4B1):c.472G>A (p.Gly158Ser)	AP4B1 (G158S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2261864	NM_001253852.3(AP4B1):c.470-2A>C	AP4B1	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2173709	NM_001253852.3(AP4B1):c.470-6T>G	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2142012	NM_001253852.3(AP4B1):c.470-14G>A	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1587891	NM_001253852.3(AP4B1):c.470-20A>G	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2021876	NM_001253852.3(AP4B1):c.469+17C>A	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2040933	NM_001253852.3(AP4B1):c.456A>C (p.Gly152=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2911976	NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)	AP4B1 (N149* +1 more)	Duplication (nonsense +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1715820	NM_001253852.3(AP4B1):c.445A>T (p.Asn149Tyr)	AP4B1 (N149Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1703332	NM_001253852.3(AP4B1):c.443_444delinsC (p.His148fs)	AP4B1 (H148fs +1 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 1174717	NM_001253852.3(AP4B1):c.444del (p.His148fs)	AP4B1 (H148fs +1 more)	Deletion (intron variant +1 more)	not provided	GPathogenic
Select item 2218494	NM_001253852.3(AP4B1):c.443A>C (p.His148Pro)	AP4B1 (H148P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1983590	NM_001253852.3(AP4B1):c.426T>C (p.Leu142=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1403078	NM_001253852.3(AP4B1):c.412A>G (p.Arg138Gly)	AP4B1 (R138G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2495941	NM_001253852.3(AP4B1):c.410G>A (p.Arg137Lys)	AP4B1 (R38K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1344777	NM_001253852.3(AP4B1):c.409A>G (p.Arg137Gly)	AP4B1 (R137G +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GLikely pathogenic
Select item 520648	NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)	AP4B1	Deletion (nonsense +1 more)	Hereditary spastic paraplegia 47 +1 more	GPathogenic
Select item 761146	NM_001253852.3(AP4B1):c.402A>T (p.Ser134=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 157722	NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +4 more	GBenign
Select item 2008841	NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)	AP4B1 (D131fs +1 more)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 641519	NM_001253852.3(AP4B1):c.389G>A (p.Arg130Gln)	AP4B1 (R31Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1028531	NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp)	AP4B1 (R31W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1003759	NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val)	AP4B1 (I125V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 1460905	NM_001253852.3(AP4B1):c.372T>C (p.Pro124=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3127548	NM_001253852.3(AP4B1):c.363A>G (p.Ile121Met)	AP4B1 (I121M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 568438	NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn)	AP4B1 (Y120N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 3127547	NM_001253852.3(AP4B1):c.353A>G (p.Gln118Arg)	AP4B1 (Q118R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1457254	NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)	AP4B1 (Q19* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1732151	NM_001253852.3(AP4B1):c.350T>C (p.Val117Ala)	AP4B1 (V117A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2413456	NM_001253852.3(AP4B1):c.339-7T>C	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1646628	NM_001253852.3(AP4B1):c.339-15G>A	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GBenign
Select item 1613010	NM_001253852.3(AP4B1):c.339-16A>C	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1219482	NM_001253852.3(AP4B1):c.339-87A>C	AP4B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581893	NM_001253852.3(AP4B1):c.338+20_338+23del	AP4B1	Microsatellite (intron variant)	Hereditary spastic paraplegia 47	GBenign
Select item 1581957	NM_001253852.3(AP4B1):c.338+19G>C	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 434229	NM_001253852.3(AP4B1):c.338+5G>A	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GConflicting classifications of pathogenicity
Select item 859557	NM_001253852.3(AP4B1):c.337A>G (p.Arg113Gly)	AP4B1 (R113G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1652049	NM_001253852.3(AP4B1):c.336C>T (p.Leu112=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1927981	NM_001253852.3(AP4B1):c.323G>T (p.Ser108Ile)	AP4B1 (S108I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1058778	NM_001253852.3(AP4B1):c.323G>A (p.Ser108Asn)	AP4B1 (S108N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2153606	NM_001253852.3(AP4B1):c.320G>A (p.Arg107Gln)	AP4B1 (R107Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1310614	NM_001253852.3(AP4B1):c.319C>G (p.Arg107Gly)	AP4B1 (R107G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 828196	NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp)	AP4B1 (R107W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 157721	NM_001253852.3(AP4B1):c.313del (p.Ala105fs)	AP4B1 (A6fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 210195	NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)	AP4B1 (L104fs +1 more)	Indel (frameshift variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1344778	NM_001253852.3(AP4B1):c.311del (p.Leu104fs)	AP4B1 (L104fs +1 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia	GLikely pathogenic
Select item 1344774	NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)	AP4B1 (R102* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1798622	NM_001253852.3(AP4B1):c.299T>C (p.Met100Thr)	AP4B1 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1362639	NM_001253852.3(AP4B1):c.298A>G (p.Met100Val)	AP4B1 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 1798369	NM_001253852.3(AP4B1):c.297A>G (p.Pro99=)	AP4B1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 697328	NM_001253852.3(AP4B1):c.267G>A (p.Thr89=)	AP4B1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 47 +1 more	GLikely benign
Select item 1494321	NM_001253852.3(AP4B1):c.266C>T (p.Thr89Met)	AP4B1 (T89M)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 946401	NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro)	AP4B1 (A83P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 157720	NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)	AP4B1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1310613	NM_001253852.3(AP4B1):c.239C>T (p.Pro80Leu)	AP4B1 (P80L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1615926	NM_001253852.3(AP4B1):c.232C>T (p.Leu78=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 393216	NM_001253852.3(AP4B1):c.230C>T (p.Pro77Leu)	AP4B1 (P77L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005419	NM_001253852.3(AP4B1):c.229C>T (p.Pro77Ser)	AP4B1 (P77S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1397960	NM_001253852.3(AP4B1):c.222A>G (p.Thr74=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2582859	NM_001253852.3(AP4B1):c.219C>T (p.Cys73=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1526026	NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)	AP4B1 (C73*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 240688	NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser)	AP4B1 (C73S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 589490	NM_001253852.3(AP4B1):c.216G>A (p.Met72Ile)	AP4B1 (M72I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 575639	NM_001253852.3(AP4B1):c.215T>C (p.Met72Thr)	AP4B1 (M72T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1016510	NM_001253852.3(AP4B1):c.211T>C (p.Tyr71His)	AP4B1 (Y71H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2417677	NM_001253852.3(AP4B1):c.207T>C (p.Tyr69=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2585554	NM_001253852.3(AP4B1):c.202G>A (p.Val68Ile)	AP4B1 (V68I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2715367	NM_001253852.3(AP4B1):c.199T>C (p.Leu67=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1014348	NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn)	AP4B1 (K66N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2095626	NM_001253852.3(AP4B1):c.183T>C (p.Asp61=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2128491	NM_001253852.3(AP4B1):c.182A>T (p.Asp61Val)	AP4B1 (D61V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2902565	NM_001253852.3(AP4B1):c.176C>G (p.Thr59Ser)	AP4B1 (T59S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 472194	NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala)	AP4B1 (T59A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1402412	NM_001253852.3(AP4B1):c.172G>C (p.Ala58Pro)	AP4B1 (A58P)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 100855	NM_001253852.3(AP4B1):c.165G>A (p.Lys55=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 659688	NM_001253852.3(AP4B1):c.159G>A (p.Met53Ile)	AP4B1 (M53I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 696207	NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)	AP4B1 (M51L)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GBenign/Likely benign

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