AP4B1-AS1[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	LINC01780, LINC02868 +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 2460326	NM_015967.8(PTPN22):c.2378C>T (p.Ser793Leu)	AP4B1-AS1, PTPN22 (S765L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672343	NM_015967.8(PTPN22):c.2359+11T>C	AP4B1-AS1, PTPN22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3311442	NM_015967.8(PTPN22):c.2272A>G (p.Met758Val)	AP4B1-AS1, PTPN22 (M758V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401700	NM_015967.8(PTPN22):c.2267G>A (p.Arg756Gln)	AP4B1-AS1, PTPN22 (R728Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218728	NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn)	AP4B1-AS1, PTPN22 (K750N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2576003	NM_015967.8(PTPN22):c.2201C>T (p.Ser734Phe)	AP4B1-AS1, PTPN22 (S679F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677416	NM_015967.8(PTPN22):c.2171G>C (p.Ser724Thr)	AP4B1-AS1, PTPN22 (S669T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775137	NM_015967.8(PTPN22):c.2135-5_2135-4del	AP4B1-AS1, PTPN22	Deletion (intron variant)	not provided	GBenign
Select item 769239	NM_015967.8(PTPN22):c.2135-4del	AP4B1-AS1, PTPN22	Deletion (intron variant)	not provided	GBenign
Select item 2302402	NM_015967.8(PTPN22):c.2081C>A (p.Pro694Gln)	AP4B1-AS1, PTPN22 (P666Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267351	NM_015967.8(PTPN22):c.2081C>G (p.Pro694Arg)	AP4B1-AS1, PTPN22 (P670R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773112	NM_015967.8(PTPN22):c.2075C>G (p.Ser692Cys)	AP4B1-AS1, PTPN22 (S637C +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3311444	NM_015967.8(PTPN22):c.2057T>C (p.Leu686Pro)	AP4B1-AS1, PTPN22 (L631P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612977	NM_015967.8(PTPN22):c.2027G>C (p.Ser676Thr)	AP4B1-AS1, PTPN22 (S621T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463975	NM_015967.8(PTPN22):c.1994T>C (p.Phe665Ser)	AP4B1-AS1, PTPN22 (F610S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 721090	NM_015967.8(PTPN22):c.1971T>A (p.Gly657=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2585350	NM_015967.8(PTPN22):c.1894+2T>C	AP4B1-AS1, PTPN22	Single nucleotide variant (splice donor variant)	Rheumatoid arthritis	GUncertain significance
Select item 8909	NM_015967.8(PTPN22):c.1858= (p.Trp620=)	AP4B1-AS1, PTPN22 (R620W +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3027355	NM_015967.8(PTPN22):c.1840C>G (p.Pro614Ala)	PTPN22, AP4B1-AS1 (P559A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285146	NM_015967.8(PTPN22):c.1701G>A (p.Leu567=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615905	NM_015967.8(PTPN22):c.1639T>C (p.Ser547Pro)	AP4B1-AS1, PTPN22 (S492P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791808	NM_015967.8(PTPN22):c.1627A>G (p.Ser543Gly)	AP4B1-AS1, PTPN22 (S488G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2507686	NM_015967.8(PTPN22):c.1583A>G (p.Tyr528Cys)	AP4B1-AS1, PTPN22 (Y473C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738660	NM_015967.8(PTPN22):c.1548G>A (p.Lys516=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2389742	NM_015967.8(PTPN22):c.1529G>A (p.Arg510His)	AP4B1-AS1, PTPN22 (R455H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750395	NM_015967.8(PTPN22):c.1514C>G (p.Ser505Cys)	AP4B1-AS1, PTPN22 (S450C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733772	NM_015967.8(PTPN22):c.1431T>C (p.His477=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149175	NM_015967.8(PTPN22):c.1411T>A (p.Tyr471Asn)	AP4B1-AS1, PTPN22 (Y471N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721470	NM_015967.8(PTPN22):c.1407T>C (p.Phe469=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773412	NM_015967.8(PTPN22):c.1366C>G (p.Gln456Glu)	AP4B1-AS1, PTPN22 (Q432E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2542294	NM_015967.8(PTPN22):c.1351C>G (p.Pro451Ala)	AP4B1-AS1, PTPN22 (P451A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490807	NM_015967.8(PTPN22):c.1301C>A (p.Ala434Glu)	AP4B1-AS1, PTPN22 (A379E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229989	NM_015967.8(PTPN22):c.1233G>T (p.Lys411Asn)	AP4B1-AS1, PTPN22 (K411N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277740	NM_015967.8(PTPN22):c.1130C>T (p.Ser377Phe)	AP4B1-AS1, PTPN22 (S322F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769240	NM_015967.8(PTPN22):c.1108C>A (p.His370Asn)	AP4B1-AS1, PTPN22 (H370N +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2243807	NM_015967.8(PTPN22):c.1078G>A (p.Glu360Lys)	AP4B1-AS1, PTPN22 (E360K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339444	NM_015967.8(PTPN22):c.992+3G>A	AP4B1-AS1, PTPN22	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2223156	NM_015967.8(PTPN22):c.860T>C (p.Leu287Ser)	AP4B1-AS1, PTPN22 (L287S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3256996	NM_015967.8(PTPN22):c.858A>G (p.Val286=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3149179	NM_015967.8(PTPN22):c.852T>A (p.Asn284Lys)	AP4B1-AS1, PTPN22 (N260K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1174724	NM_015967.8(PTPN22):c.828+4T>G	AP4B1-AS1, PTPN22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3353083	NM_015967.8(PTPN22):c.788G>A (p.Arg263Gln)	AP4B1-AS1, PTPN22 (R239Q +1 more)	Single nucleotide variant (missense variant +1 more)	PTPN22-related disorder	GBenign
Select item 3149178	NM_015967.8(PTPN22):c.787C>T (p.Arg263Trp)	AP4B1-AS1, PTPN22 (R239W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535971	NM_015967.8(PTPN22):c.735G>A (p.Met245Ile)	AP4B1-AS1, PTPN22 (M221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311443	NM_015967.8(PTPN22):c.730T>C (p.Trp244Arg)	AP4B1-AS1, PTPN22 (W220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549051	NM_015967.8(PTPN22):c.699G>C (p.Arg233Ser)	AP4B1-AS1, PTPN22 (R233S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322002	NM_015967.8(PTPN22):c.621G>C (p.Glu207Asp)	AP4B1-AS1, PTPN22 (E183D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457868	NM_015967.8(PTPN22):c.604A>G (p.Ile202Val)	AP4B1-AS1, PTPN22 (I178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525895	NM_015967.8(PTPN22):c.590A>G (p.Asp197Gly)	AP4B1-AS1, PTPN22 (D197G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055112	NM_015967.8(PTPN22):c.576T>C (p.Asn192=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant)	PTPN22-related disorder	GLikely benign
Select item 3149177	NM_015967.8(PTPN22):c.548G>A (p.Arg183Gln)	AP4B1-AS1, PTPN22 (R159Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456401	NM_015967.8(PTPN22):c.494G>C (p.Arg165Thr)	AP4B1-AS1, PTPN22 (R141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639002	NM_015967.8(PTPN22):c.462C>T (p.Gly154=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3342175	NM_015967.8(PTPN22):c.426C>T (p.Tyr142=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2316822	NM_015967.8(PTPN22):c.422G>A (p.Arg141His)	AP4B1-AS1, PTPN22 (R141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047936	NM_015967.8(PTPN22):c.273+4C>T	AP4B1-AS1, PTPN22	Single nucleotide variant (intron variant)	PTPN22-related disorder	GLikely benign
Select item 760692	NM_015967.8(PTPN22):c.222C>T (p.Ser74=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2346806	NM_015967.8(PTPN22):c.208C>T (p.Arg70Trp)	AP4B1-AS1, PTPN22 (R70W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734921	NM_015967.8(PTPN22):c.197-4A>G	AP4B1-AS1, PTPN22	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 788635	NM_015967.8(PTPN22):c.147T>C (p.Ala49=)	AP4B1-AS1, PTPN22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3362521	NM_015967.8(PTPN22):c.91C>G (p.Leu31Val)	AP4B1-AS1, PTPN22 (L31V)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus	GUncertain significance
Select item 2205096	NM_015967.8(PTPN22):c.91C>A (p.Leu31Met)	AP4B1-AS1, PTPN22 (L31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8910	NM_015967.6(PTPN22):c.-1123C>G	AP4B1-AS1, PTPN22	Single nucleotide variant	Diabetes mellitus, insulin-dependent, susceptibility to	Grisk factor
Select item 3260657	NM_001010922.3(BCL2L15):c.453C>A (p.Phe151Leu)	AP4B1-AS1, BCL2L15 (F151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241928	NM_001010922.3(BCL2L15):c.307G>A (p.Asp103Asn)	AP4B1-AS1, BCL2L15 (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133421	NM_001010922.3(BCL2L15):c.214G>T (p.Ala72Ser)	AP4B1-AS1, BCL2L15 (A72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260656	NM_001010922.3(BCL2L15):c.158T>C (p.Ile53Thr)	AP4B1-AS1, BCL2L15 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597735	NM_001010922.3(BCL2L15):c.148G>A (p.Val50Met)	AP4B1-AS1, BCL2L15 (V50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133422	NM_001010922.3(BCL2L15):c.77C>T (p.Thr26Ile)	AP4B1-AS1, BCL2L15 (T26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287700	NM_001010922.3(BCL2L15):c.37T>A (p.Cys13Ser)	AP4B1-AS1, BCL2L15 (C13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not provided +1 more	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)	Hereditary spastic paraplegia 47 +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, AP4B1-AS1 (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)	Inborn genetic diseases +1 more	GLikely benign
Select item 589431	NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 47 +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

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