ClinVar for Gene (Select 10717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300889	NM_001253852.3(AP4B1):c.742A>G (p.Ser248Gly)	AP4B1, AP4B1-AS1 (S149G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300878	NM_001253852.3(AP4B1):c.1774T>G (p.Ser592Ala)	AP4B1, AP4B1-AS1 (S592A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3300858	NM_001253852.3(AP4B1):c.1018G>A (p.Val340Met)	AP4B1, AP4B1-AS1 (V241M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300842	NM_001253852.3(AP4B1):c.1604G>T (p.Ser535Ile)	AP4B1, AP4B1-AS1 (S367I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300826	NM_001253852.3(AP4B1):c.869G>A (p.Arg290His)	AP4B1, AP4B1-AS1 (R122H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251199	NM_001253852.3(AP4B1):c.3del (p.Met1fs)	AP4B1, DCLRE1B +1 more (M1fs)	Deletion (frameshift variant +3 more)	not provided	GUncertain significance
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	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 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 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 3127546	NM_001253852.3(AP4B1):c.1871G>A (p.Arg624His)	AP4B1, AP4B1-AS1 (R624H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3127543	NM_001253852.3(AP4B1):c.1070C>T (p.Thr357Met)	AP4B1, AP4B1-AS1 (T189M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127542	NM_001253852.3(AP4B1):c.1067G>A (p.Cys356Tyr)	AP4B1, AP4B1-AS1 (C356Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127541	NM_001253852.3(AP4B1):c.1028A>C (p.Glu343Ala)	AP4B1, AP4B1-AS1 (E244A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058417	NM_001253852.3(AP4B1):c.1134C>A (p.Tyr378Ter)	AP4B1, AP4B1-AS1 (Y210* +2 more)	Single nucleotide variant (nonsense)	AP4B1-related disorder	GLikely pathogenic
Select item 3034322	NM_001253852.3(AP4B1):c.1683C>T (p.Asn561=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	AP4B1-related disorder	GLikely benign
Select item 2971411	NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)	AP4B1, DCLRE1B +1 more (C18fs)	Microsatellite (frameshift variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
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 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 2898995	NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2847987	NM_001253852.3(AP4B1):c.1792+8C>T	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2842700	NM_001253852.3(AP4B1):c.1899A>G (p.Lys633=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2799609	NM_001253852.3(AP4B1):c.1792+11T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2783172	NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg)	AP4B1, DCLRE1B +1 more (K14R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2775826	NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2752455	NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)	AP4B1, AP4B1-AS1 (L343fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 47	GPathogenic
Select item 2724633	NM_001253852.3(AP4B1):c.2040A>G (p.Lys680=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
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 2695240	NM_001253852.3(AP4B1):c.1106_1114+8del	AP4B1, AP4B1-AS1	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2639004	NM_001253852.3(AP4B1):c.1557T>C (p.Tyr519=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639003	NM_001253852.3(AP4B1):c.1918G>T (p.Val640Phe)	AP4B1, AP4B1-AS1 (V472F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627503	NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)	AP4B1, AP4B1-AS1 (S370fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 2623900	NM_001253852.3(AP4B1):c.724A>C (p.Ser242Arg)	AP4B1, AP4B1-AS1 (S143R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622626	NM_001253852.3(AP4B1):c.1951G>A (p.Glu651Lys)	AP4B1, AP4B1-AS1 (E483K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604229	NM_001253852.3(AP4B1):c.1930C>G (p.Gln644Glu)	AP4B1, AP4B1-AS1 (Q545E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2584921	NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)	AP4B1, AP4B1-AS1 (C257fs +2 more)	Deletion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely pathogenic
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 2578580	NM_001253852.3(AP4B1):c.992_999del (p.Gln331fs)	AP4B1-AS1, AP4B1 (Q163fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2554151	NM_001253852.3(AP4B1):c.1318A>C (p.Ile440Leu)	AP4B1, AP4B1-AS1 (I440L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549842	NM_001253852.3(AP4B1):c.2079C>A (p.Phe693Leu)	AP4B1, AP4B1-AS1 (F693L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538515	NM_001253852.3(AP4B1):c.1490G>A (p.Arg497His)	AP4B1, AP4B1-AS1 (R497H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2490364	NM_001253852.3(AP4B1):c.1634T>C (p.Leu545Ser)	AP4B1, AP4B1-AS1 (L377S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2476813	NM_001253852.3(AP4B1):c.1823G>A (p.Arg608Lys)	AP4B1, AP4B1-AS1 (R608K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439136	NM_001253852.3(AP4B1):c.2131A>C (p.Lys711Gln)	AP4B1, AP4B1-AS1 (K543Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2419831	NM_001253852.3(AP4B1):c.113+13T>G	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
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 2417041	NM_001253852.3(AP4B1):c.2123_2133del (p.Ile708fs)	AP4B1, AP4B1-AS1 (I540fs +2 more)	Deletion (frameshift variant)	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 2413456	NM_001253852.3(AP4B1):c.339-7T>C	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2397732	NM_001253852.3(AP4B1):c.1922C>A (p.Ala641Asp)	AP4B1, AP4B1-AS1 (A542D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386563	NM_001253852.3(AP4B1):c.856T>G (p.Ser286Ala)	AP4B1, AP4B1-AS1 (S286A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373635	NM_001253852.3(AP4B1):c.952T>A (p.Phe318Ile)	AP4B1, AP4B1-AS1 (F150I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333220	NM_001253852.3(AP4B1):c.145G>T (p.Val49Phe)	AP4B1 (V49F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330932	NM_001253852.3(AP4B1):c.1630C>T (p.Leu544Phe)	AP4B1, AP4B1-AS1 (L544F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294651	NM_001253852.3(AP4B1):c.1249G>A (p.Glu417Lys)	AP4B1, AP4B1-AS1 (E417K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 2257927	NM_001253852.3(AP4B1):c.1720A>C (p.Thr574Pro)	AP4B1, AP4B1-AS1 (T574P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256479	NM_001253852.3(AP4B1):c.38T>C (p.Leu13Pro)	AP4B1, DCLRE1B +1 more (L13P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231123	NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)	AP4B1, AP4B1-AS1 (N245H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
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 2204438	NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)	AP4B1, AP4B1-AS1 (L92M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2202043	NM_001253852.3(AP4B1):c.2211A>G (p.Ile737Met)	AP4B1, AP4B1-AS1 (I569M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2201440	NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly)	AP4B1, AP4B1-AS1 (V472G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2200943	NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
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 2198413	NM_001253852.3(AP4B1):c.114-13G>T	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2197822	NM_001253852.3(AP4B1):c.114-14T>C	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2191238	NM_001253852.3(AP4B1):c.1560C>T (p.Arg520=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2183259	NM_001253852.3(AP4B1):c.113G>C (p.Arg38Thr)	AP4B1, LOC129931235 (R38T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2182991	NM_001253852.3(AP4B1):c.1724T>G (p.Ile575Ser)	AP4B1, AP4B1-AS1 (I407S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2179468	NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)	AP4B1, AP4B1-AS1 (G444D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2176039	NM_001253852.3(AP4B1):c.1585G>A (p.Val529Ile)	AP4B1, AP4B1-AS1 (V430I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
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 2172351	NM_001253852.3(AP4B1):c.1199-13G>A	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2162467	NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=)	DCLRE1B, LOC129931235 +1 more	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
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 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 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 2147476	NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)	AP4B1, AP4B1-AS1 (I427V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2144496	NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)	AP4B1, AP4B1-AS1 (Q315* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
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 2136478	NM_001253852.3(AP4B1):c.113+10A>G	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2128608	NM_001253852.3(AP4B1):c.1708G>A (p.Ala570Thr)	AP4B1, AP4B1-AS1 (A570T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
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 2121991	NM_001253852.3(AP4B1):c.618-12T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2117969	NM_001253852.3(AP4B1):c.1198+7C>A	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2116482	NM_001253852.3(AP4B1):c.1901C>G (p.Thr634Ser)	AP4B1, AP4B1-AS1 (T634S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2106782	NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)	AP4B1, AP4B1-AS1 (C125fs +2 more)	Microsatellite (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 2105377	NM_001253852.3(AP4B1):c.1114+14C>T	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
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 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 2086838	NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)	AP4B1, AP4B1-AS1 (P479A +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance

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