PTK2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	RHOBTB2, SCARA3 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC110121196, LOC110121233 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 2459670	NM_171982.5(TRIM35):c.421G>A (p.Ala141Thr)	LOC130000066, PTK2B +1 more (A141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773402	NM_171982.5(TRIM35):c.363C>T (p.Cys121=)	LOC130000066, PTK2B +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2370930	NM_171982.5(TRIM35):c.305G>A (p.Arg102His)	LOC130000066, PTK2B +1 more (R102H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280649	NM_171982.5(TRIM35):c.188G>A (p.Arg63His)	LOC130000067, PTK2B +1 more (R63H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460440	NM_171982.5(TRIM35):c.157G>T (p.Val53Leu)	LOC130000067, PTK2B +1 more (V53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382201	NM_171982.5(TRIM35):c.17A>G (p.Asp6Gly)	TRIM35, PTK2B (D6G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525528	NM_171982.5(TRIM35):c.8G>A (p.Arg3Gln)	PTK2B, TRIM35 (R3Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304762	NM_173176.3(PTK2B):c.8G>A (p.Gly3Glu)	PTK2B (G3E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595588	NM_173176.3(PTK2B):c.50G>A (p.Arg17His)	PTK2B (R17H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559600	NM_173176.3(PTK2B):c.52C>T (p.Arg18Trp)	PTK2B (R18W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480342	NM_173176.3(PTK2B):c.62G>C (p.Gly21Ala)	PTK2B (G21A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210765	NM_173176.3(PTK2B):c.65C>T (p.Pro22Leu)	PTK2B (P22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509265	NM_173176.3(PTK2B):c.77T>C (p.Met26Thr)	PTK2B (M26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747284	NM_173176.3(PTK2B):c.357G>A (p.Glu119=)	PTK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658498	NM_173176.3(PTK2B):c.494G>A (p.Arg165His)	PTK2B (R165H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 792104	NM_173176.3(PTK2B):c.532C>T (p.Leu178=)	PTK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773403	NM_173176.3(PTK2B):c.534G>A (p.Leu178=)	PTK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2251291	NM_173176.3(PTK2B):c.603C>A (p.Phe201Leu)	PTK2B (F201L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303035	NM_173176.3(PTK2B):c.755A>G (p.Asn252Ser)	PTK2B (N252S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397987	NM_173176.3(PTK2B):c.772G>A (p.Ala258Thr)	PTK2B (A258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788820	NM_173176.3(PTK2B):c.791C>A (p.Thr264Asn)	PTK2B (T264N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2559966	NM_173176.3(PTK2B):c.908A>C (p.Lys303Thr)	PTK2B (K303T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658499	NM_173176.3(PTK2B):c.977G>T (p.Gly326Val)	PTK2B (G326V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775261	NM_173176.3(PTK2B):c.1075C>G (p.Gln359Glu)	PTK2B (Q359E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2507546	NM_173176.3(PTK2B):c.1117C>T (p.Arg373Trp)	PTK2B (R373W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215455	NM_173176.3(PTK2B):c.1160G>A (p.Arg387Gln)	PTK2B (R387Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255455	NM_173176.3(PTK2B):c.1169A>G (p.His390Arg)	PTK2B (H390R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387939	NM_173176.3(PTK2B):c.1232G>A (p.Arg411Gln)	PTK2B (R411Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776301	NM_173176.3(PTK2B):c.1239C>T (p.Pro413=)	PTK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2383988	NM_173176.3(PTK2B):c.1240G>A (p.Gly414Arg)	PTK2B (G414R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519826	NM_173176.3(PTK2B):c.1472G>T (p.Gly491Val)	PTK2B (G491V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252444	NM_173176.3(PTK2B):c.1538A>G (p.Tyr513Cys)	PTK2B (Y513C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217539	NM_173176.3(PTK2B):c.1599A>G (p.Ile533Met)	PTK2B (I533M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207765	NM_173176.3(PTK2B):c.1810A>G (p.Thr604Ala)	PTK2B (T604A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786557	NM_173176.3(PTK2B):c.1835-9A>G	PTK2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2480680	NM_173176.3(PTK2B):c.1837G>A (p.Val613Met)	PTK2B (V613M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207526	NM_173176.3(PTK2B):c.1907G>C (p.Gly636Ala)	PTK2B (G636A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369660	NM_173176.3(PTK2B):c.1994A>G (p.Asp665Gly)	PTK2B (D665G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270675	NM_173176.3(PTK2B):c.2059A>C (p.Lys687Gln)	PTK2B (K687Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547771	NM_173176.3(PTK2B):c.2123C>T (p.Thr708Ile)	PTK2B (T708I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508452	NM_173176.3(PTK2B):c.2171C>A (p.Pro724His)	PTK2B (P724H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392705	NM_173176.3(PTK2B):c.2339G>A (p.Arg780Gln)	PTK2B (R780Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318259	NM_173176.3(PTK2B):c.2384A>G (p.Gln795Arg)	PTK2B (Q795R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310761	NM_173176.3(PTK2B):c.2400A>C (p.Glu800Asp)	PTK2B (E758D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240384	NM_173176.3(PTK2B):c.2421C>G (p.Ile807Met)	PTK2B (I807M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658500	NM_173176.3(PTK2B):c.2548C>T (p.Leu850=)	PTK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278876	NM_173176.3(PTK2B):c.2594A>G (p.Gln865Arg)	PTK2B (Q865R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490496	NM_173176.3(PTK2B):c.2647A>G (p.Asn883Asp)	PTK2B (N883D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321342	NM_173176.3(PTK2B):c.2648A>G (p.Asn883Ser)	PTK2B (N841S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658501	NM_173176.3(PTK2B):c.2799A>G (p.Ser933=)	PTK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623663	NM_173176.3(PTK2B):c.2906G>A (p.Ser969Asn)	PTK2B (S927N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372031	NM_173176.3(PTK2B):c.3026A>T (p.Glu1009Val)	PTK2B (E967V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic

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