AP1G1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 1343913	NM_001128.6(AP1G1):c.2367+12A>G	AP1G1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2630086	NM_001128.6(AP1G1):c.2347A>G (p.Lys783Glu)	AP1G1 (K783E +1 more)	Single nucleotide variant (missense variant)	AP1G1-related disorder	GUncertain significance
Select item 3252892	NM_001128.6(AP1G1):c.2326G>A (p.Gly776Arg)	AP1G1 (G776R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251756	NM_001128.6(AP1G1):c.2324C>T (p.Thr775Met)	AP1G1 (T775M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342598	NM_001128.6(AP1G1):c.2231A>G (p.Asp744Gly)	AP1G1 (D744G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357825	NM_001128.6(AP1G1):c.2127A>G (p.Ala709=)	AP1G1	Single nucleotide variant (synonymous variant)	AP1G1-related disorder	GLikely benign
Select item 2206183	NM_001128.6(AP1G1):c.2080C>T (p.Gln694Ter)	AP1G1 (Q697* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2536346	NM_001128.6(AP1G1):c.2061G>C (p.Leu687Phe)	AP1G1 (L687F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332597	NM_001128.6(AP1G1):c.2050C>T (p.Pro684Ser)	AP1G1 (P687S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2538237	NM_001128.6(AP1G1):c.2044T>G (p.Ser682Ala)	AP1G1 (S685A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062338	NM_001128.6(AP1G1):c.2039del (p.Gln680fs)	AP1G1 (Q680fs +1 more)	Deletion (frameshift variant)	Usmani-Riazuddin syndrome, autosomal dominant	GLikely pathogenic
Select item 2227636	NM_001128.6(AP1G1):c.2026G>A (p.Ala676Thr)	AP1G1 (A679T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253546	NM_001128.6(AP1G1):c.2024del (p.Pro675fs)	AP1G1 (P675fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2634587	NM_001128.6(AP1G1):c.1999+2dup	AP1G1	Duplication (splice donor variant)	AP1G1-related disorder	GUncertain significance
Select item 3127437	NM_001128.6(AP1G1):c.1984G>A (p.Asp662Asn)	AP1G1 (D665N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3024982	NM_001128.6(AP1G1):c.1946C>T (p.Pro649Leu)	AP1G1 (P649L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3063670	NM_001128.6(AP1G1):c.1816G>A (p.Glu606Lys)	AP1G1 (E606K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127436	NM_001128.6(AP1G1):c.1796T>C (p.Val599Ala)	AP1G1 (V602A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3127435	NM_001128.6(AP1G1):c.1787C>T (p.Thr596Ile)	AP1G1 (T596I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2402427	NM_001128.6(AP1G1):c.1787C>G (p.Thr596Ser)	AP1G1 (T599S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472315	NM_001128.6(AP1G1):c.1786A>G (p.Thr596Ala)	AP1G1 (T596A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1701295	NM_001128.6(AP1G1):c.1735_1749delinsCCC (p.Ala579_Arg583delinsPro)	AP1G1	Indel (inframe_indel)	not provided	GLikely pathogenic
Select item 3337805	NM_001128.6(AP1G1):c.1733C>G (p.Ser578Cys)	AP1G1 (S578C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068918	NM_001128.6(AP1G1):c.1723C>G (p.His575Asp)	AP1G1 (H575D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324000	NM_001128.6(AP1G1):c.1650C>G (p.Ile550Met)	AP1G1 (I553M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3127434	NM_001128.6(AP1G1):c.1622T>G (p.Val541Gly)	AP1G1 (V541G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683837	NM_001128.6(AP1G1):c.1621G>C (p.Val541Leu)	AP1G1 (V541L +1 more)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GUncertain significance
Select item 3343243	NM_001128.6(AP1G1):c.1604C>G (p.Thr535Ser)	AP1G1 (T535S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347862	NM_001128.6(AP1G1):c.1567C>T (p.Arg523Ter)	AP1G1 (R523* +1 more)	Single nucleotide variant (nonsense)	AP1G1-related disorder	GUncertain significance
Select item 2521005	NM_001128.6(AP1G1):c.1556C>A (p.Thr519Asn)	AP1G1 (T519N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521004	NM_001128.6(AP1G1):c.1555A>T (p.Thr519Ser)	AP1G1 (T522S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2632215	NM_001128.6(AP1G1):c.1553C>G (p.Ser518Cys)	AP1G1 (S518C +1 more)	Single nucleotide variant (missense variant)	AP1G1-related disorder	GUncertain significance
Select item 3342739	NM_001128.6(AP1G1):c.1498-3C>G	AP1G1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2573171	NM_001128.6(AP1G1):c.1497+1G>A	AP1G1	Single nucleotide variant (splice donor variant)	Usmani-Riazuddin syndrome, autosomal recessive	GPathogenic
Select item 3065479	NM_001128.6(AP1G1):c.1496A>C (p.Gln499Pro)	AP1G1 (Q499P +1 more)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GUncertain significance
Select item 2390652	NM_001128.6(AP1G1):c.1492A>G (p.Ile498Val)	AP1G1 (I498V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2465492	NM_001128.6(AP1G1):c.1411C>G (p.Pro471Ala)	AP1G1 (P471A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065652	NM_001128.6(AP1G1):c.1407A>C (p.Gln469His)	AP1G1 (Q469H +1 more)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GUncertain significance
Select item 3342467	NM_001128.6(AP1G1):c.1327C>T (p.Gln443Ter)	AP1G1 (Q443* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3127433	NM_001128.6(AP1G1):c.1319A>G (p.Asn440Ser)	AP1G1 (N440S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1805937	NM_001128.6(AP1G1):c.1301G>A (p.Arg434His)	AP1G1 (R434H +1 more)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GUncertain significance
Select item 3300264	NM_001128.6(AP1G1):c.1271G>A (p.Arg424His)	AP1G1 (R427H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635370	NM_001128.6(AP1G1):c.1271G>T (p.Arg424Leu)	AP1G1 (R424L +1 more)	Single nucleotide variant (missense variant)	AP1G1-related disorder	GUncertain significance
Select item 3343291	NM_001128.6(AP1G1):c.1262C>G (p.Thr421Arg)	AP1G1 (T421R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2471602	NM_001128.6(AP1G1):c.1255A>G (p.Ile419Val)	AP1G1 (I422V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1708225	NM_001128.6(AP1G1):c.1246C>T (p.Arg416Ter)	AP1G1 (R416* +1 more)	Single nucleotide variant (nonsense)	Usmani-Riazuddin syndrome, autosomal dominant	GPathogenic
Select item 2242863	NM_001128.6(AP1G1):c.1230G>T (p.Lys410Asn)	AP1G1 (K413N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299371	NM_001128.6(AP1G1):c.1096A>G (p.Met366Val)	AP1G1 (M369V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212043	NM_001128.6(AP1G1):c.1094C>T (p.Ala365Val)	AP1G1 (A368V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258270	NM_001128.6(AP1G1):c.1025C>T (p.Ala342Val)	AP1G1 (A342V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301716	NM_001128.6(AP1G1):c.1006G>A (p.Val336Ile)	AP1G1 (V336I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1321989	NM_001128.6(AP1G1):c.974+1G>T	AP1G1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3248633	NM_001128.6(AP1G1):c.919-1G>T	AP1G1	Single nucleotide variant (splice acceptor variant)	See cases	GLikely pathogenic
Select item 3253372	NM_001128.6(AP1G1):c.897T>G (p.Ile299Met)	AP1G1 (I299M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631916	NM_001128.6(AP1G1):c.881del (p.Val293_Leu294insTer)	AP1G1	Deletion (nonsense)	AP1G1-related disorder	GUncertain significance
Select item 3252760	NM_001128.6(AP1G1):c.776A>C (p.Asn259Thr)	AP1G1 (N259T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063915	NM_001128.6(AP1G1):c.757T>C (p.Leu253=)	AP1G1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1299370	NM_001128.6(AP1G1):c.728C>A (p.Pro243His)	AP1G1 (P246H +1 more)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal recessive	GPathogenic
Select item 3253181	NM_001128.6(AP1G1):c.658G>C (p.Val220Leu)	AP1G1 (V220L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2250266	NM_001128.6(AP1G1):c.658G>A (p.Val220Ile)	AP1G1 (V220I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230908	NM_001128.6(AP1G1):c.629C>T (p.Ala210Val)	AP1G1 (A210V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3127438	NM_001128.6(AP1G1):c.616C>G (p.Pro206Ala)	AP1G1 (P206A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2558048	NM_001128.6(AP1G1):c.577A>G (p.Thr193Ala)	AP1G1 (T193A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056675	NM_001128.6(AP1G1):c.469-5_469-4insT	AP1G1	Insertion (intron variant)	AP1G1-related disorder	GLikely benign
Select item 3355971	NM_001128.6(AP1G1):c.469-5del	AP1G1	Deletion (intron variant)	AP1G1-related disorder	GLikely benign
Select item 3252547	NM_001128.6(AP1G1):c.359G>T (p.Gly120Val)	AP1G1 (G120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252875	NM_001128.6(AP1G1):c.331C>T (p.Leu111Phe)	AP1G1 (L111F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635228	NM_001128.6(AP1G1):c.296T>C (p.Val99Ala)	AP1G1 (V99A)	Single nucleotide variant (missense variant)	AP1G1-related disorder	GUncertain significance
Select item 725926	NM_001128.6(AP1G1):c.202-4G>T	AP1G1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636573	NM_001128.6(AP1G1):c.197G>A (p.Gly66Glu)	AP1G1 (G66E)	Single nucleotide variant (missense variant)	AP1G1-related disorder	GUncertain significance
Select item 3031920	NM_001128.6(AP1G1):c.142C>T (p.Arg48Trp)	AP1G1 (R48W)	Single nucleotide variant (missense variant)	AP1G1-related disorder	GUncertain significance
Select item 1299369	NM_001128.6(AP1G1):c.104G>A (p.Arg35Gln)	AP1G1 (R35Q)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GPathogenic
Select item 1299368	NM_001128.6(AP1G1):c.103C>T (p.Arg35Trp)	AP1G1 (R35W)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GPathogenic
Select item 3339369	NM_001128.6(AP1G1):c.102C>G (p.Ile34Met)	AP1G1 (I34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705521	NM_001128.6(AP1G1):c.98C>T (p.Ala33Val)	AP1G1 (A33V)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GUncertain significance
Select item 3342475	NM_001128.6(AP1G1):c.52C>T (p.Arg18Ter)	AP1G1 (R18*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2227589	NM_001128.6(AP1G1):c.44G>T (p.Arg15Leu)	AP1G1 (R15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299367	NM_001128.6(AP1G1):c.44G>A (p.Arg15Gln)	AP1G1 (R15Q)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1708218	NM_001128.6(AP1G1):c.43C>T (p.Arg15Trp)	AP1G1 (R15W)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GLikely pathogenic
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1809158	GRCh37/hg19 16q22.2(chr16:71799420-72372326)x1	AP1G1, ATXN1L +9 more	Copy number loss	not provided	GUncertain significance

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