ClinVar for MedGen (Select 481368) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
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 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 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)	Inborn genetic diseases +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=)	AP4B1, DCLRE1B +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-AS1, AP4B1 (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-AS1, AP4B1 (Q315* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	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 (intron 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	GUncertain significance
Select item 2082118	NM_001253852.3(AP4B1):c.901C>T (p.Arg301Cys)	AP4B1, AP4B1-AS1 (R133C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2080510	NM_001253852.3(AP4B1):c.1747C>T (p.Arg583Cys)	AP4B1-AS1, AP4B1 (R415C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2076208	NM_001253852.3(AP4B1):c.1588A>G (p.Lys530Glu)	AP4B1, AP4B1-AS1 (K362E +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2073686	NM_001253852.3(AP4B1):c.639G>T (p.Trp213Cys)	AP4B1, AP4B1-AS1 (W114C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2072057	NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2066994	NM_001253852.3(AP4B1):c.113+10A>T	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2058903	NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)	AP4B1, AP4B1-AS1 (R301H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 2057128	NM_001253852.3(AP4B1):c.1644G>A (p.Pro548=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2055700	NM_001253852.3(AP4B1):c.1786G>A (p.Ala596Thr)	AP4B1, AP4B1-AS1 (A428T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2054931	NM_001253852.3(AP4B1):c.1510+12A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2048203	NM_001253852.3(AP4B1):c.678A>C (p.Gln226His)	AP4B1, AP4B1-AS1 (Q127H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2047934	NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)	AP4B1, AP4B1-AS1 (P320H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2045618	NM_001253852.3(AP4B1):c.1199-18C>T	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2042180	NM_001253852.3(AP4B1):c.2162A>G (p.Asn721Ser)	AP4B1, AP4B1-AS1 (N721S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 2041494	NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)	AP4B1, AP4B1-AS1 (L106F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2039934	NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous 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 2018892	NM_001253852.3(AP4B1):c.1863C>G (p.Val621=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 2014062	NM_001253852.3(AP4B1):c.654A>G (p.Val218=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
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 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 2005351	NM_001253852.3(AP4B1):c.952T>C (p.Phe318Leu)	AP4B1, AP4B1-AS1 (F318L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1993045	NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)	AP4B1, AP4B1-AS1 (I203fs +2 more)	Insertion (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1993044	NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)	AP4B1, AP4B1-AS1	Insertion (nonsense)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1991601	NM_001253852.3(AP4B1):c.1181A>C (p.Gln394Pro)	AP4B1, AP4B1-AS1 (Q226P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	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 1967620	NM_001253852.3(AP4B1):c.1511-19A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GUncertain significance
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 1959401	NM_001253852.3(AP4B1):c.1177C>A (p.Arg393=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1938390	NM_001253852.3(AP4B1):c.113+20G>T	AP4B1, LOC129931235	Single nucleotide variant (intron variant)	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 1915660	NM_001253852.3(AP4B1):c.1444C>T (p.Arg482Cys)	AP4B1, AP4B1-AS1 (R314C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1908939	NM_001253852.3(AP4B1):c.939C>T (p.Ser313=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1878601	NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met)	AP4B1, DCLRE1B +1 more (L13M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1743268	NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47 +1 more	GLikely benign
Select item 1716305	NM_001253852.3(AP4B1):c.2083A>C (p.Thr695Pro)	AP4B1, AP4B1-AS1 (T527P +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
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 1704352	NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)	AP4B1, AP4B1-AS1 (I272fs +2 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 47	GPathogenic
Select item 1693977	NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met)	AP4B1, AP4B1-AS1 (V180M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 47 +2 more	GUncertain significance
Select item 1664938	NM_001253852.3(AP4B1):c.1926T>C (p.His642=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1653832	NM_001253852.3(AP4B1):c.2151G>A (p.Thr717=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
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 1646628	NM_001253852.3(AP4B1):c.339-15G>A	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GBenign

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