26191[geneid] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +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 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 specified +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 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)	AP4B1-AS1, PTPN22 (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)	PTPN22, AP4B1-AS1 (S488G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely 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 +1 more	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)	PTPN22-related disorder +1 more	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)	PTPN22, AP4B1-AS1 (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 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 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 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 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 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 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 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	DDX20, LRIF1 +34 more	Deletion	not provided	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	SIKE1, DENND2C +23 more	Duplication	RASopathy	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 70