AP5B1[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 3301240	NM_138368.5(AP5B1):c.2609A>G (p.Tyr870Cys)	AP5B1 (Y870C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344147	NM_138368.5(AP5B1):c.2600C>T (p.Ala867Val)	AP5B1 (A867V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212919	NM_138368.5(AP5B1):c.2594C>T (p.Pro865Leu)	AP5B1 (P865L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351242	NM_138368.5(AP5B1):c.2587G>A (p.Val863Met)	AP5B1 (V863M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460265	NM_138368.5(AP5B1):c.2569C>T (p.Arg857Trp)	AP5B1 (R857W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517950	NM_138368.5(AP5B1):c.2507C>T (p.Pro836Leu)	AP5B1 (P836L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485211	NM_138368.5(AP5B1):c.2503C>T (p.Pro835Ser)	AP5B1 (P835S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465032	NM_138368.5(AP5B1):c.2390G>A (p.Arg797His)	AP5B1 (R797H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127568	NM_138368.5(AP5B1):c.2342T>G (p.Phe781Cys)	AP5B1 (F781C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301220	NM_138368.5(AP5B1):c.2219T>G (p.Val740Gly)	AP5B1 (V740G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481408	NM_138368.5(AP5B1):c.2192G>A (p.Arg731Gln)	AP5B1 (R731Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127567	NM_138368.5(AP5B1):c.2164C>T (p.Arg722Cys)	AP5B1 (R722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538953	NM_138368.5(AP5B1):c.2125G>C (p.Ala709Pro)	AP5B1 (A709P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360651	NM_138368.5(AP5B1):c.2098G>A (p.Glu700Lys)	AP5B1 (E700K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 424669	NM_138368.5(AP5B1):c.2089T>C (p.Phe697Leu)	AP5B1 (F697L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2380192	NM_138368.5(AP5B1):c.2065C>G (p.Pro689Ala)	AP5B1 (P689A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301248	NM_138368.5(AP5B1):c.2041A>C (p.Lys681Gln)	AP5B1 (K681Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468055	NM_138368.5(AP5B1):c.1993C>T (p.Arg665Trp)	AP5B1 (R665W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611132	NM_138368.5(AP5B1):c.1858G>C (p.Ala620Pro)	AP5B1 (A620P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468700	NM_138368.5(AP5B1):c.1838G>A (p.Arg613His)	AP5B1 (R613H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301154	NM_138368.5(AP5B1):c.1825C>T (p.Arg609Cys)	AP5B1 (R609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127566	NM_138368.5(AP5B1):c.1807C>G (p.Leu603Val)	AP5B1 (L603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 424683	NM_138368.5(AP5B1):c.1791G>C (p.Gln597His)	AP5B1 (Q597H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 3301165	NM_138368.5(AP5B1):c.1780G>A (p.Asp594Asn)	AP5B1 (D594N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346517	NM_138368.5(AP5B1):c.1703C>T (p.Thr568Met)	AP5B1 (T568M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749372	NM_138368.5(AP5B1):c.1689G>A (p.Ala563=)	AP5B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348213	NM_138368.5(AP5B1):c.1592C>T (p.Pro531Leu)	AP5B1 (P531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301192	NM_138368.5(AP5B1):c.1580T>C (p.Val527Ala)	AP5B1 (V527A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538687	NM_138368.5(AP5B1):c.1553C>T (p.Pro518Leu)	AP5B1 (P518L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383743	NM_138368.5(AP5B1):c.1549G>A (p.Glu517Lys)	AP5B1 (E517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280791	NM_138368.5(AP5B1):c.1536C>G (p.Asp512Glu)	AP5B1 (D512E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641970	NM_138368.5(AP5B1):c.1518C>T (p.Asp506=)	AP5B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334089	NM_138368.5(AP5B1):c.1489C>T (p.Arg497Trp)	AP5B1 (R497W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301212	NM_138368.5(AP5B1):c.1465G>A (p.Gly489Arg)	AP5B1 (G489R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401005	NM_138368.5(AP5B1):c.1375C>G (p.Arg459Gly)	AP5B1 (R459G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262829	NM_138368.5(AP5B1):c.1355C>T (p.Ala452Val)	AP5B1 (A452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269785	NM_138368.5(AP5B1):c.1351C>T (p.Arg451Trp)	AP5B1 (R451W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127563	NM_138368.5(AP5B1):c.1312C>G (p.Arg438Gly)	AP5B1 (R438G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401314	NM_138368.5(AP5B1):c.1288G>A (p.Glu430Lys)	AP5B1 (E430K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316340	NM_138368.5(AP5B1):c.1243C>T (p.Arg415Cys)	AP5B1 (R415C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292354	NM_138368.5(AP5B1):c.1211G>A (p.Ser404Asn)	AP5B1 (S404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 424668	NM_138368.5(AP5B1):c.1201C>T (p.Leu401Phe)	AP5B1 (L401F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 2229475	NM_138368.5(AP5B1):c.1195C>T (p.Arg399Cys)	AP5B1 (R399C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609516	NM_138368.5(AP5B1):c.1147C>T (p.Pro383Ser)	AP5B1 (P383S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611842	NM_138368.5(AP5B1):c.1071C>A (p.His357Gln)	AP5B1 (H357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278130	NM_138368.5(AP5B1):c.1051C>T (p.Leu351Phe)	AP5B1 (L351F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724774	NM_138368.5(AP5B1):c.1035G>T (p.Ala345=)	AP5B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549692	NM_138368.5(AP5B1):c.982C>G (p.Leu328Val)	AP5B1 (L328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301143	NM_138368.5(AP5B1):c.976G>A (p.Ala326Thr)	AP5B1 (A326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301174	NM_138368.5(AP5B1):c.896G>A (p.Gly299Asp)	AP5B1 (G299D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395856	NM_138368.5(AP5B1):c.827A>G (p.Asp276Gly)	AP5B1 (D276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301230	NM_138368.5(AP5B1):c.770G>T (p.Arg257Leu)	AP5B1 (R257L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476553	NM_138368.5(AP5B1):c.755G>C (p.Arg252Pro)	AP5B1 (R252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127569	NM_138368.5(AP5B1):c.727C>T (p.Pro243Ser)	AP5B1 (P243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301245	NM_138368.5(AP5B1):c.659G>A (p.Gly220Asp)	AP5B1 (G220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318618	NM_138368.5(AP5B1):c.653C>A (p.Thr218Asn)	AP5B1 (T218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532277	NM_138368.5(AP5B1):c.575C>T (p.Ala192Val)	AP5B1 (A192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619629	NM_138368.5(AP5B1):c.557G>A (p.Ser186Asn)	AP5B1 (S186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301202	NM_138368.5(AP5B1):c.512T>G (p.Leu171Trp)	AP5B1 (L171W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301181	NM_138368.5(AP5B1):c.509G>A (p.Gly170Glu)	AP5B1 (G170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301244	NM_138368.5(AP5B1):c.491T>C (p.Leu164Pro)	AP5B1 (L164P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285252	NM_138368.5(AP5B1):c.433C>T (p.Pro145Ser)	AP5B1 (P145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343110	NM_138368.5(AP5B1):c.424G>C (p.Glu142Gln)	AP5B1 (E142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301246	NM_138368.5(AP5B1):c.416C>T (p.Pro139Leu)	AP5B1 (P139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641971	NM_138368.5(AP5B1):c.357G>A (p.Arg119=)	AP5B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127564	NM_138368.5(AP5B1):c.293T>A (p.Leu98Gln)	AP5B1 (L98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332518	NM_138368.5(AP5B1):c.265C>T (p.Pro89Ser)	AP5B1 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510387	NM_138368.5(AP5B1):c.260C>T (p.Pro87Leu)	AP5B1 (P87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347944	NM_138368.5(AP5B1):c.206C>T (p.Ser69Phe)	AP5B1 (S69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127565	NM_138368.5(AP5B1):c.185C>T (p.Ala62Val)	AP5B1 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127562	NM_138368.5(AP5B1):c.181C>A (p.Pro61Thr)	AP5B1 (P61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980956	GRCh37/hg19 11q13.1(chr11:65514044-65571198)x1	AP5B1, OVOL1	Copy number loss	not provided	GUncertain significance
Select item 685329	GRCh37/hg19 11q13.1(chr11:65529506-65649002)x3	AP5B1, CFL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 86