ClinVar for Gene (Select 10717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4536656	NM_001253852.3(AP4B1):c.1592G>A (p.Arg531Gln)	AP4B1, AP4B1-AS1 (R259Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4536654	NM_001253852.3(AP4B1):c.2101C>G (p.Pro701Ala)	AP4B1, AP4B1-AS1 (P429A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4531850	NM_001253852.3(AP4B1):c.531_535delinsAGA (p.Asn178fs)	AP4B1 (N79fs +1 more)	Indel (frameshift variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 4417910	NM_001253852.3(AP4B1):c.114-179G>T	AP4B1	Single nucleotide variant (intron variant)	Not Specified
Select item 4417174	NM_001253852.3(AP4B1):c.618-13G>T	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Not Specified
Select item 4417114	NR_037864.1(AP4B1-AS1):n.783G>C	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Not Specified
Select item 4417088	NM_001253852.3(AP4B1):c.1072G>T (p.Asp358Tyr)	AP4B1, AP4B1-AS1 (D283Y +4 more)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4417008	NR_037864.1(AP4B1-AS1):n.369-5T>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4416958	NR_037864.1(AP4B1-AS1):n.369-21T>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4416922	NM_001253852.3(AP4B1):c.1115-102A>T	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4416895	NM_001253852.3(AP4B1):c.1198G>T (p.Val400Leu)	AP4B1, AP4B1-AS1 (E325* +8 more)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4416851	NM_001253852.3(AP4B1):c.1198+135T>A	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4416818	NR_037864.1(AP4B1-AS1):n.302C>A	AP4B1, AP4B1-AS1 (D407Y +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Not Specified
Select item 4416732	NR_037864.1(AP4B1-AS1):n.247-10C>G	AP4B1, AP4B1-AS1 (E329D +4 more)	Single nucleotide variant (intron variant +1 more)	Not Specified
Select item 4416688	NM_001253852.3(AP4B1):c.1499A>T (p.Tyr500Phe)	AP4B1, AP4B1-AS1 (Y500F +4 more)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4416600	NM_001253852.3(AP4B1):c.1793-62A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Not Specified
Select item 4415567	NM_001253852.3(AP4B1):c.1793-1G>C	AP4B1, AP4B1-AS1	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4292540	NM_001253852.3(AP4B1):c.1162G>T (p.Glu388Ter)	AP4B1, AP4B1-AS1 (E220* +4 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 47	GPathogenic
Select item 4292468	NM_001253852.3(AP4B1):c.190C>T (p.Gln64Ter)	AP4B1 (Q64*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 47	GLikely pathogenic
Select item 4115737	NM_001253852.3(AP4B1):c.620T>C (p.Met207Thr)	AP4B1, AP4B1-AS1 (M39T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115731	NM_001253852.3(AP4B1):c.980A>G (p.Tyr327Cys)	AP4B1, AP4B1-AS1 (Y228C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115725	NM_001253852.3(AP4B1):c.536G>A (p.Cys179Tyr)	AP4B1 (C80Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115720	NM_001253852.3(AP4B1):c.481G>A (p.Val161Ile)	AP4B1 (V62I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115713	NM_001253852.3(AP4B1):c.524T>C (p.Val175Ala)	AP4B1 (V175A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115711	NM_001253852.3(AP4B1):c.505C>T (p.Arg169Cys)	AP4B1 (R169C +2 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115700	NM_001253852.3(AP4B1):c.1339G>A (p.Gly447Arg)	AP4B1, AP4B1-AS1 (G279R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115690	NM_001253852.3(AP4B1):c.2042C>T (p.Ala681Val)	AP4B1, AP4B1-AS1 (A606V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4115679	NM_001253852.3(AP4B1):c.1099G>A (p.Ala367Thr)	AP4B1, AP4B1-AS1 (A199T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115670	NM_001253852.3(AP4B1):c.1288A>G (p.Ile430Val)	AP4B1, AP4B1-AS1 (I262V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4115654	NM_001253852.3(AP4B1):c.1724T>C (p.Ile575Thr)	AP4B1, AP4B1-AS1 (I396T +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4115642	NM_001253852.3(AP4B1):c.380A>G (p.Asn127Ser)	AP4B1 (N52S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4085016	NM_001253852.3(AP4B1):c.609C>T (p.Leu203=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 4083470	NM_001253852.3(AP4B1):c.-78A>G	AP4B1, DCLRE1B +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3923236	NM_001253852.3(AP4B1):c.1058G>A (p.Arg353Gln)	AP4B1, AP4B1-AS1 (R254Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3923226	NM_001253852.3(AP4B1):c.1805C>G (p.Pro602Arg)	AP4B1, AP4B1-AS1 (P602R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923217	NM_001253852.3(AP4B1):c.1208A>C (p.Gln403Pro)	AP4B1, AP4B1-AS1 (Q235P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3923200	NM_001253852.3(AP4B1):c.1926T>A (p.His642Gln)	AP4B1, AP4B1-AS1 (H543Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3923189	NM_001253852.3(AP4B1):c.964T>G (p.Tyr322Asp)	AP4B1, AP4B1-AS1 (Y154D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3877262	NM_001253852.3(AP4B1):c.882T>G (p.Phe294Leu)	AP4B1, AP4B1-AS1 (F126L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3877255	NM_001253852.3(AP4B1):c.580G>C (p.Val194Leu)	AP4B1 (V194L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3877246	NM_001253852.3(AP4B1):c.581T>C (p.Val194Ala)	AP4B1 (V194A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3731077	NM_001253852.3(AP4B1):c.383G>A (p.Gly128Asp)	AP4B1 (G29D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3730315	NM_001253852.3(AP4B1):c.339-16A>G	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3728724	NM_001253852.3(AP4B1):c.339-12T>C	AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3702520	NM_001253852.3(AP4B1):c.770A>C (p.Lys257Thr)	AP4B1, AP4B1-AS1 (K158T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GUncertain significance
Select item 3679897	NM_001253852.3(AP4B1):c.1792+16A>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3674201	NM_001253852.3(AP4B1):c.385C>T (p.Leu129=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3671033	NM_001253852.3(AP4B1):c.1785C>T (p.Ala595=)	AP4B1-AS1, AP4B1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3668455	NM_001253852.3(AP4B1):c.1407T>C (p.Phe469=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3643610	NM_001253852.3(AP4B1):c.846A>G (p.Leu282=)	AP4B1-AS1, AP4B1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3632851	NM_001253852.3(AP4B1):c.1098dup (p.Ala367fs)	AP4B1-AS1, AP4B1 (A367fs +2 more)	Duplication (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GPathogenic
Select item 3631108	NM_001253852.3(AP4B1):c.1269G>A (p.Leu423=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3616769	NM_001253852.3(AP4B1):c.1793-9C>A	AP4B1-AS1, AP4B1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3613229	NM_001253852.3(AP4B1):c.1098T>C (p.Ala366=)	AP4B1-AS1, AP4B1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3610125	NM_001253852.3(AP4B1):c.1115-13C>T	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47	GLikely benign
Select item 3404492	NM_001253852.3(AP4B1):c.1513G>A (p.Glu505Lys)	AP4B1, AP4B1-AS1 (E406K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3404481	NM_001253852.3(AP4B1):c.2176G>C (p.Val726Leu)	AP4B1, AP4B1-AS1 (V627L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3404472	NM_001253852.3(AP4B1):c.1789T>G (p.Ser597Ala)	AP4B1, AP4B1-AS1 (S429A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3404462	NM_001253852.3(AP4B1):c.604C>T (p.His202Tyr)	AP4B1 (H103Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3404452	NM_001253852.3(AP4B1):c.826C>T (p.Arg276Trp)	AP4B1, AP4B1-AS1 (R108W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3404445	NM_001253852.3(AP4B1):c.776T>C (p.Phe259Ser)	AP4B1-AS1, AP4B1 (F160S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3404435	NM_001253852.3(AP4B1):c.1016T>C (p.Leu339Pro)	AP4B1, AP4B1-AS1 (L171P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3404425	NM_001253852.3(AP4B1):c.1319T>C (p.Ile440Thr)	AP4B1, AP4B1-AS1 (I272T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3404415	NM_001253852.3(AP4B1):c.1445G>A (p.Arg482His)	AP4B1, AP4B1-AS1 (R383H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391970	GRCh37/hg19 1p13.2(chr1:114011164-114912564)x3	AP4B1, BCL2L15 +8 more	Copy number gain	not provided	GUncertain significance
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)	Hereditary spastic paraplegia 47 +1 more	GConflicting classifications of pathogenicity
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	CSDE1, DCLRE1B +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 +1 more	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

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