ClinVar for Gene (Select 164) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3581243	NM_001128.6(AP1G1):c.868del (p.Tyr290fs)	AP1G1 (Y293fs +1 more)	Deletion (frameshift variant)	Usmani-Riazuddin syndrome, autosomal dominant +1 more	GLikely pathogenic
Select item 3403256	NM_001128.6(AP1G1):c.2272T>A (p.Phe758Ile)	AP1G1 (F758I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3403245	NM_001128.6(AP1G1):c.1611C>G (p.Phe537Leu)	AP1G1 (F537L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3403234	NM_001128.6(AP1G1):c.154A>G (p.Lys52Glu)	AP1G1 (K52E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3403224	NM_001128.6(AP1G1):c.2305A>G (p.Ile769Val)	AP1G1 (I769V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3403213	NM_001128.6(AP1G1):c.1135C>T (p.Arg379Ter)	AP1G1 (R379* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3403204	NM_001128.6(AP1G1):c.886A>G (p.Ile296Val)	AP1G1 (I299V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3403196	NM_001128.6(AP1G1):c.1372C>T (p.Arg458Cys)	AP1G1 (R458C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3403186	NM_001128.6(AP1G1):c.1991A>G (p.Asn664Ser)	AP1G1 (N664S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3403179	NM_001128.6(AP1G1):c.2093A>G (p.Asn698Ser)	AP1G1 (N701S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3403169	NM_001128.6(AP1G1):c.1579C>T (p.Leu527Phe)	AP1G1 (L527F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3403161	NM_001128.6(AP1G1):c.535A>T (p.Thr179Ser)	AP1G1 (T179S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3392783	NM_001128.6(AP1G1):c.514A>T (p.Met172Leu)	AP1G1 (M172L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3391857	GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 3391572	NM_001128.6(AP1G1):c.2344A>G (p.Ile782Val)	AP1G1 (I782V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3391292	NM_001128.6(AP1G1):c.980T>C (p.Val327Ala)	AP1G1 (V327A +1 more)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal dominant	GUncertain significance
Select item 3390789	NM_001128.6(AP1G1):c.2008G>A (p.Ala670Thr)	AP1G1 (A670T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3385304	NM_001128.6(AP1G1):c.1565C>T (p.Thr522Ile)	AP1G1 (T522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3384011	NM_001128.6(AP1G1):c.515dup (p.Met172fs)	AP1G1 (M172fs)	Duplication (frameshift variant)	Usmani-Riazuddin syndrome, autosomal recessive	GPathogenic
Select item 3376822	NM_001128.6(AP1G1):c.136C>T (p.Arg46Ter)	AP1G1 (R46*)	Single nucleotide variant (nonsense)	Usmani-Riazuddin syndrome, autosomal dominant	GUncertain significance
Select item 3376345	NM_001128.6(AP1G1):c.-2G>A	AP1G1	Single nucleotide variant (5 prime UTR variant)	Usmani-Riazuddin syndrome, autosomal dominant	GLikely pathogenic
Select item 3368492	NM_001128.6(AP1G1):c.456_459del (p.Ser151_Tyr152insTer)	AP1G1	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 3367811	NM_001128.6(AP1G1):c.1355A>G (p.His452Arg)	AP1G1 (H452R +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 3355971	NM_001128.6(AP1G1):c.469-5del	AP1G1	Deletion (intron variant)	AP1G1-related disorder	GLikely benign
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 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 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 3342739	NM_001128.6(AP1G1):c.1498-3C>G	AP1G1	Single nucleotide variant (intron variant)	not provided	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 3342475	NM_001128.6(AP1G1):c.52C>T (p.Arg18Ter)	AP1G1 (R18*)	Single nucleotide variant (nonsense)	not provided	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 3339369	NM_001128.6(AP1G1):c.102C>G (p.Ile34Met)	AP1G1 (I34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3253546	NM_001128.6(AP1G1):c.2024del (p.Pro675fs)	AP1G1 (P675fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 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 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 3252875	NM_001128.6(AP1G1):c.331C>T (p.Leu111Phe)	AP1G1 (L111F)	Single nucleotide variant (missense variant)	not provided	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 3252547	NM_001128.6(AP1G1):c.359G>T (p.Gly120Val)	AP1G1 (G120V)	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 3248633	NM_001128.6(AP1G1):c.919-1G>T	AP1G1	Single nucleotide variant (splice acceptor variant)	See cases	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 3127438	NM_001128.6(AP1G1):c.616C>G (p.Pro206Ala)	AP1G1 (P206A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 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 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 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 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 3063915	NM_001128.6(AP1G1):c.757T>C (p.Leu253=)	AP1G1	Single nucleotide variant (synonymous variant)	not specified	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 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 3056675	NM_001128.6(AP1G1):c.469-5_469-4insT	AP1G1	Insertion (intron variant)	AP1G1-related disorder	GLikely benign
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 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 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 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 2636573	NM_001128.6(AP1G1):c.197G>A (p.Gly66Glu)	AP1G1 (G66E)	Single nucleotide variant (missense variant)	AP1G1-related disorder	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 2635228	NM_001128.6(AP1G1):c.296T>C (p.Val99Ala)	AP1G1 (V99A)	Single nucleotide variant (missense variant)	AP1G1-related disorder	GUncertain significance
Select item 2634587	NM_001128.6(AP1G1):c.1999+2dup	AP1G1	Duplication (splice donor variant)	AP1G1-related disorder	GUncertain significance
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 2631916	NM_001128.6(AP1G1):c.881del (p.Val293_Leu294insTer)	AP1G1	Deletion (nonsense)	AP1G1-related disorder	GUncertain significance
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 2573171	NM_001128.6(AP1G1):c.1497+1G>A	AP1G1	Single nucleotide variant (splice donor variant)	Usmani-Riazuddin syndrome, autosomal recessive	GPathogenic
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 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 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 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 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 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 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 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 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 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 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 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 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 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 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 2230908	NM_001128.6(AP1G1):c.629C>T (p.Ala210Val)	AP1G1 (A210V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2227589	NM_001128.6(AP1G1):c.44G>T (p.Arg15Leu)	AP1G1 (R15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2206183	NM_001128.6(AP1G1):c.2080C>T (p.Gln694Ter)	AP1G1 (Q697* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1809158	GRCh37/hg19 16q22.2(chr16:71799420-72372326)x1	AP1G1, ATXN1L +9 more	Copy number loss	not provided	GUncertain significance
Select item 1809139	GRCh37/hg19 16q22.2(chr16:71422334-72110927)x4	AP1G1, ATXN1L +13 more	Copy number gain	not provided	GUncertain significance
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 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 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 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic

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