ClinVar for Gene (Select 11154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349945	NM_001128126.3(AP4S1):c.151del (p.Glu51fs)	AP4S1 (E51fs)	Deletion (frameshift variant)	AP4S1-related disorder	GLikely pathogenic
Select item 3301115	NM_001128126.3(AP4S1):c.305A>T (p.Asp102Val)	AP4S1 (D102V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301105	NM_001128126.3(AP4S1):c.307A>G (p.Ile103Val)	AP4S1 (I103V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242526	Single allele	AP4S1	Deletion	Spastic paraplegia 52, autosomal recessive	GPathogenic
Select item 3171654	NM_001083893.2(STRN3):c.233G>T (p.Arg78Leu)	AP4S1, LOC130055445 +1 more (R78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067846	NM_001254729.1(AP4S1):c.226_294del	AP4S1	Deletion	Spastic paraplegia 52, autosomal recessive	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3057074	NM_001128126.3(AP4S1):c.306+2937_306+2938dup	AP4S1	Duplication (intron variant)	AP4S1-related disorder	GLikely benign
Select item 3053732	NM_001128126.3(AP4S1):c.402T>G (p.Pro134=)	AP4S1	Single nucleotide variant (synonymous variant)	AP4S1-related disorder	GLikely benign
Select item 3053508	NM_001128126.3(AP4S1):c.403C>T (p.Leu135=)	AP4S1	Single nucleotide variant (synonymous variant)	AP4S1-related disorder	GLikely benign
Select item 3050372	NM_001128126.3(AP4S1):c.*3G>A	AP4S1	Single nucleotide variant (3 prime UTR variant)	AP4S1-related disorder	GLikely benign
Select item 3042933	NM_001128126.3(AP4S1):c.306+2938del	AP4S1	Deletion (intron variant)	AP4S1-related disorder	GLikely benign
Select item 2920410	NM_001128126.3(AP4S1):c.225+12G>C	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2912698	NM_001128126.3(AP4S1):c.306T>C (p.Asp102=)	AP4S1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2906292	NM_001128126.3(AP4S1):c.306+4277C>T	AP4S1	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 2818611	NM_001128126.3(AP4S1):c.306+4167T>C	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2806729	NM_001128126.3(AP4S1):c.226-19C>T	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2804655	NM_001128126.3(AP4S1):c.294+1G>A	AP4S1	Single nucleotide variant (splice donor variant)	Spastic paraplegia	GPathogenic
Select item 2732953	NM_001128126.3(AP4S1):c.9dup (p.Phe4fs)	AP4S1 (F4fs)	Duplication (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2730684	NM_001128126.3(AP4S1):c.295-13T>C	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2714675	NM_001128126.3(AP4S1):c.295-16T>C	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644154	NM_001128126.3(AP4S1):c.307-4G>A	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2644153	NM_001128126.3(AP4S1):c.93G>A (p.Leu31=)	AP4S1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615059	NM_001083893.2(STRN3):c.179C>G (p.Pro60Arg)	AP4S1, LOC130055445 +1 more (P60R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590822	NM_001083893.2(STRN3):c.130C>T (p.Pro44Ser)	AP4S1, LOC130055445 +1 more (P44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581133	NM_001128126.3(AP4S1):c.365_366delinsAG (p.Cys122Ter)	AP4S1 (C122*)	Indel (nonsense)	Spastic paraplegia 52, autosomal recessive	GPathogenic
Select item 2545154	NM_001083893.2(STRN3):c.106G>A (p.Gly36Arg)	AP4S1, LOC130055445 +1 more (G36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532256	NM_001083893.2(STRN3):c.85G>A (p.Gly29Ser)	AP4S1, LOC130055445 +1 more (G29S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2531781	NM_001083893.2(STRN3):c.98G>A (p.Gly33Glu)	AP4S1, LOC130055445 +1 more (G33E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495208	NM_001128126.3(AP4S1):c.229G>A (p.Glu77Lys)	AP4S1 (E77K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469842	NM_001128126.3(AP4S1):c.179G>A (p.Arg60Gln)	AP4S1 (R60Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439139	NM_001128126.3(AP4S1):c.152A>G (p.Glu51Gly)	AP4S1 (E51G)	Single nucleotide variant (missense variant)	Spastic paraplegia 52, autosomal recessive	GUncertain significance
Select item 2431495	NM_001128126.3(AP4S1):c.44G>A (p.Arg15Gln)	AP4S1 (R15Q)	Single nucleotide variant (missense variant)	Spastic paraplegia 52, autosomal recessive	GUncertain significance
Select item 2425685	NC_000014.8:g.(?_31549759)_(31554088_?)dup	AP4S1	Duplication	Spastic paraplegia	GUncertain significance
Select item 2391941	NM_001128126.3(AP4S1):c.67G>A (p.Val23Met)	AP4S1 (V23M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384873	NM_001128126.3(AP4S1):c.199A>G (p.Ile67Val)	AP4S1 (I67V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253337	NM_001083893.2(STRN3):c.205C>G (p.Leu69Val)	AP4S1, LOC130055445 +1 more (L69V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251751	NM_001083893.2(STRN3):c.182A>G (p.Gln61Arg)	AP4S1, LOC130055445 +1 more (Q61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2166928	NM_001128126.3(AP4S1):c.171G>A (p.Leu57=)	AP4S1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2158277	NM_001128126.3(AP4S1):c.306+45C>T	AP4S1	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2154621	NM_001128126.3(AP4S1):c.226-9T>C	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2139018	NM_001128126.3(AP4S1):c.143_144del (p.Ser48fs)	AP4S1 (S48fs)	Microsatellite (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 2075672	NM_001128126.3(AP4S1):c.86C>G (p.Thr29Arg)	AP4S1 (T29R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2041065	NM_001128126.3(AP4S1):c.125G>A (p.Arg42Gln)	AP4S1 (R42Q)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1948789	NM_001128126.3(AP4S1):c.306+4297G>C	AP4S1	Single nucleotide variant (stop lost +2 more)	Spastic paraplegia	GUncertain significance
Select item 1920430	NM_001128126.3(AP4S1):c.306+74G>A	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1914828	NM_001128126.3(AP4S1):c.225G>C (p.Glu75Asp)	AP4S1 (E75D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1721871	NM_001128126.3(AP4S1):c.34G>A (p.Gly12Arg)	AP4S1 (G12R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1699110	NM_001128126.3(AP4S1):c.306+4281A>G	AP4S1 (T131A +1 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia 52, autosomal recessive	GUncertain significance
Select item 1694717	NM_001128126.3(AP4S1):c.146_167del (p.Phe49fs)	AP4S1 (F49fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1694097	NM_001128126.3(AP4S1):c.82C>T (p.Arg28Cys)	AP4S1 (R28C)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1685242	NM_001128126.3(AP4S1):c.295-1G>A	AP4S1	Single nucleotide variant (splice acceptor variant +1 more)	Spastic paraplegia 52, autosomal recessive	GLikely pathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1653666	NM_001128126.3(AP4S1):c.139-13G>T	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1609449	NM_001128126.3(AP4S1):c.306+78G>A	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1609234	NM_001128126.3(AP4S1):c.273A>G (p.Leu91=)	AP4S1	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1609065	NM_001128126.3(AP4S1):c.306+4190A>G	AP4S1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1562472	NM_001128126.3(AP4S1):c.139-20T>C	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1479545	NM_001128126.3(AP4S1):c.226-2A>G	AP4S1	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia	GLikely pathogenic
Select item 1464403	NM_001128126.3(AP4S1):c.306+4280C>T	AP4S1	Single nucleotide variant (synonymous variant +2 more)	Spastic paraplegia	GLikely benign
Select item 1423253	NM_001128126.3(AP4S1):c.100_101del (p.Glu34fs)	AP4S1 (E34fs)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 1409771	NM_001128126.3(AP4S1):c.225+5G>A	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1407838	NM_001128126.3(AP4S1):c.70G>A (p.Asp24Asn)	AP4S1 (D24N)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1400958	NM_001128126.3(AP4S1):c.306+40A>G	AP4S1 (M116V)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1397537	NM_001128126.3(AP4S1):c.306+4234A>G	AP4S1 (Q139R +1 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 1389045	NM_001128126.3(AP4S1):c.268G>A (p.Val90Ile)	AP4S1 (V90I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1369219	NM_001128126.3(AP4S1):c.290G>T (p.Arg97Leu)	AP4S1 (R97L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1362328	NM_001128126.3(AP4S1):c.306+35G>A	AP4S1 (W114*)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia	GUncertain significance
Select item 1359401	NM_001128126.3(AP4S1):c.306+4179T>G	AP4S1	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1357670	NM_001128126.3(AP4S1):c.175T>C (p.Tyr59His)	AP4S1 (Y59H)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1351482	NM_001128126.3(AP4S1):c.133G>A (p.Glu45Lys)	AP4S1 (E45K)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1344802	NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs)	AP4S1 (I80fs)	Insertion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344801	NM_001128126.3(AP4S1):c.139-2A>G	AP4S1	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia 52, autosomal recessive	GLikely pathogenic
Select item 1344800	NM_001128126.3(AP4S1):c.49dup (p.Ser17fs)	AP4S1 (S17fs)	Duplication (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1344160	NM_001128126.3(AP4S1):c.306+4275G>C	AP4S1 (A129P +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GLikely benign
Select item 1344157	NM_001128126.3(AP4S1):c.306+4251G>C	AP4S1 (D121H +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344146	NM_001128126.3(AP4S1):c.306+50G>T	AP4S1 (G119V)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1336976	NM_001128126.3(AP4S1):c.306+4214C>A	AP4S1 (C108* +1 more)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 1336758	NM_001128126.3(AP4S1):c.210A>T (p.Gly70=)	AP4S1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1305682	NM_001128126.3(AP4S1):c.98C>G (p.Thr33Arg)	AP4S1 (T33R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1296439	NM_001128126.3(AP4S1):c.294+247A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289643	NM_001128126.3(AP4S1):c.294+227del	AP4S1	Deletion (intron variant)	not provided	GBenign
Select item 1286500	NM_001128126.3(AP4S1):c.138+216C>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269110	NM_001128126.3(AP4S1):c.294+300A>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266077	NM_001128126.3(AP4S1):c.226-227dup	AP4S1	Duplication (intron variant)	not provided	GBenign
Select item 1263407	NM_001128126.3(AP4S1):c.294+239A>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251533	NM_001128126.3(AP4S1):c.295-160T>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235054	NM_001128126.3(AP4S1):c.-71-215C>T	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232344	NM_001128126.3(AP4S1):c.294+283T>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228331	NM_001128126.3(AP4S1):c.294+227dup	AP4S1	Duplication (intron variant)	not provided	GBenign
Select item 1219192	NM_001128126.3(AP4S1):c.294+296T>A	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217187	NM_001128126.3(AP4S1):c.139-275C>G	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211565	NM_001128126.3(AP4S1):c.306+4377C>T	AP4S1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1205120	NM_001128126.3(AP4S1):c.294+288T>C	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200510	NM_001128126.3(AP4S1):c.226-198C>A	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194941	NM_001128126.3(AP4S1):c.-71-245C>T	AP4S1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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