AP4B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1198116	NM_001253852.3(AP4B1):c.*301T>C	AP4B1, AP4B1-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 472196	NM_001253852.3(AP4B1):c.2200A>G (p.Ile734Val)	AP4B1, AP4B1-AS1 (I734V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GLikely benign
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 588481	NM_001253852.3(AP4B1):c.2165G>C (p.Ser722Thr)	AP4B1-AS1, AP4B1 (S722T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 806192	NM_001253852.3(AP4B1):c.2156C>T (p.Thr719Met)	AP4B1, AP4B1-AS1 (T620M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1481821	NM_001253852.3(AP4B1):c.2150C>T (p.Thr717Met)	AP4B1, AP4B1-AS1 (T618M +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 589417	NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	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 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 1411592	NM_001253852.3(AP4B1):c.2099A>T (p.Glu700Val)	AP4B1, AP4B1-AS1 (E532V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 742142	NM_001253852.3(AP4B1):c.2094A>G (p.Leu698=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	not provided	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 472195	NM_001253852.3(AP4B1):c.2082A>T (p.Leu694Phe)	AP4B1, AP4B1-AS1 (L694F +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	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 1450631	NM_001253852.3(AP4B1):c.2066C>T (p.Thr689Ile)	AP4B1-AS1, AP4B1 (T521I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
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 210194	NM_001253852.3(AP4B1):c.2035T>G (p.Trp679Gly)	AP4B1, AP4B1-AS1 (W679G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1387414	NM_001253852.3(AP4B1):c.2030G>A (p.Arg677Gln)	AP4B1, AP4B1-AS1 (R509Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1059290	NM_001253852.3(AP4B1):c.2020G>T (p.Ala674Ser)	AP4B1, AP4B1-AS1 (A506S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 589338	NM_001253852.3(AP4B1):c.2013G>A (p.Met671Ile)	AP4B1, AP4B1-AS1 (M671I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588726	NM_001253852.3(AP4B1):c.2011A>G (p.Met671Val)	AP4B1, AP4B1-AS1 (M671V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 772016	NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47 +1 more	GLikely benign
Select item 589431	NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1511724	NM_001253852.3(AP4B1):c.1981C>A (p.Leu661Ile)	AP4B1, AP4B1-AS1 (L562I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1638855	NM_001253852.3(AP4B1):c.1962T>C (p.Pro654=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
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 1783114	NM_001253852.3(AP4B1):c.1945C>T (p.Arg649Trp)	AP4B1, AP4B1-AS1 (R550W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1506009	NM_001253852.3(AP4B1):c.1931A>G (p.Gln644Arg)	AP4B1, AP4B1-AS1 (Q644R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	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 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 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 955294	NM_001253852.3(AP4B1):c.1922C>T (p.Ala641Val)	AP4B1, AP4B1-AS1 (A473V +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 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 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 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 434223	NM_001253852.3(AP4B1):c.1894G>C (p.Glu632Gln)	AP4B1, AP4B1-AS1 (E632Q +2 more)	Single nucleotide variant (missense variant)	not specified	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 1403772	NM_001253852.3(AP4B1):c.1870C>T (p.Arg624Cys)	AP4B1, AP4B1-AS1 (R525C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1032463	NM_001253852.3(AP4B1):c.1870C>G (p.Arg624Gly)	AP4B1, AP4B1-AS1 (R525G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 654325	NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser)	AP4B1, AP4B1-AS1 (N455S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1038811	NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu)	AP4B1, AP4B1-AS1 (P454L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 434224	NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro)	AP4B1, AP4B1-AS1 (L620P +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1038724	NM_001253852.3(AP4B1):c.1843T>G (p.Ser615Ala)	AP4B1, AP4B1-AS1 (S615A +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1079507	NM_001253852.3(AP4B1):c.1839T>G (p.Pro613=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
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 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 1496372	NM_001253852.3(AP4B1):c.1819G>C (p.Glu607Gln)	AP4B1, AP4B1-AS1 (E607Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1344782	NM_001253852.3(AP4B1):c.1793-1G>A	AP4B1, AP4B1-AS1	Single nucleotide variant (splice acceptor variant)	Spastic paraplegia	GLikely pathogenic
Select item 157719	NM_001253852.3(AP4B1):c.1793-9C>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47 +2 more	GBenign
Select item 1207494	NM_001253852.3(AP4B1):c.1792+85A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	not provided	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 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 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 1336531	NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)	AP4B1, AP4B1-AS1 (R415H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	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 240687	NM_001253852.3(AP4B1):c.1744G>A (p.Glu582Lys)	AP4B1, AP4B1-AS1 (E582K +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 656485	NM_001253852.3(AP4B1):c.1739G>T (p.Gly580Val)	AP4B1, AP4B1-AS1 (G481V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 588263	NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
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 220727	NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)	AP4B1-AS1, AP4B1 (I575V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
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 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 210193	NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp)	AP4B1, AP4B1-AS1 (G568D +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 1056197	NM_001253852.3(AP4B1):c.1697T>C (p.Val566Ala)	AP4B1, AP4B1-AS1 (V398A +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1485382	NM_001253852.3(AP4B1):c.1696G>C (p.Val566Leu)	AP4B1-AS1, AP4B1 (V398L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1586522	NM_001253852.3(AP4B1):c.1687C>T (p.Leu563=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1778002	NM_001253852.3(AP4B1):c.1686A>G (p.Thr562=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1449146	NM_001253852.3(AP4B1):c.1679T>G (p.Phe560Cys)	AP4B1-AS1, AP4B1 (F392C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1441325	NM_001253852.3(AP4B1):c.1660A>T (p.Asn554Tyr)	AP4B1, AP4B1-AS1 (N386Y +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 1344780	NM_001253852.3(AP4B1):c.1655del (p.Pro552fs)	AP4B1, AP4B1-AS1 (P384fs +2 more)	Deletion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
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 408759	NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu)	AP4B1, AP4B1-AS1 (P548L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 1416649	NM_001253852.3(AP4B1):c.1642C>A (p.Pro548Thr)	AP4B1, AP4B1-AS1 (P380T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47	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 1584365	NM_001253852.3(AP4B1):c.1633T>C (p.Leu545=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
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 1776664	NM_001253852.3(AP4B1):c.1624C>T (p.Leu542Phe)	AP4B1, AP4B1-AS1 (L443F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1344784	NM_001253852.3(AP4B1):c.1608_1609insCA (p.Lys537fs)	AP4B1, AP4B1-AS1 (K369fs +2 more)	Insertion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 588773	NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1608788	NM_001253852.3(AP4B1):c.1596T>C (p.Ile532=)	AP4B1-AS1, AP4B1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 1344463	NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp)	AP4B1, AP4B1-AS1 (R363W +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	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 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 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 1775518	NM_001253852.3(AP4B1):c.1571T>C (p.Val524Ala)	AP4B1, AP4B1-AS1 (V356A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 589396	NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His)	AP4B1, AP4B1-AS1 (R520H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589547	NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)	AP4B1, AP4B1-AS1 (R520C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 623700	NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)	AP4B1, AP4B1-AS1 (Y519* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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