4286[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1508261.	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 GRCh37: Chr3:57174452-90309110 GRCh38: Chr3:57140424-90259960	ABHD6, ACOX2, ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, APPL1, ARF4, ARF4-AS1, ARL6IP5, ASB14, ATXN7, C3orf38, C3orf49, CADM2, CADM2-AS1, CADM2-AS2, CADPS, CEP15, CFAP20DC, CFAP20DC-AS1, CGGBP1, CHMP2B, CNTN3, CSNKA2IP, DENND6A, DENND6A-DT, DNAH12, DNASE1L3, EBLN2, EIF4E3, EOGT, EPHA3, FAM107A, FAM3D, FAM3D-AS1, FEZF2, FHIT, FLNB, FLNB-AS1, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRG2C, FRMD4B, GBE1, GPR27, GXYLT2, HESX1, HTD2, HTR1F, IL17RD, KBTBD8, KCTD6, LINC00506, LINC00698, LINC00870, LINC00877, LINC00960, LINC00971, LINC00994, LINC02005, LINC02008, LINC02018, LINC02025, LINC02027, LINC02040, LINC02047, LINC02050, LINC02070, LINC02077, LMOD3, LOC100130345, LOC101927296, LOC101927374, LOC102723364, LOC105377102, LOC105377143, LOC105377146, LOC105377162, LOC107325936, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC108281136, LOC108281142, LOC108660406, LOC110120604, LOC110120681, LOC110120682, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC110121053, LOC110121087, LOC110121119, LOC110121240, LOC111562376, LOC111589208, LOC112935952, LOC112935953, LOC112935954, LOC112935955, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC112935962, LOC114004381, LOC115995512, LOC115995513, LOC115995514, LOC121009674, LOC121009675, LOC121009676, LOC121009677, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725147, LOC121725148, LOC121725149, LOC122965318, LOC122965319, LOC122965320, LOC122965321, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC123002307, LOC123002308, LOC123002309, LOC123002310, LOC123002311, LOC123002312, LOC126806690, LOC126806691, LOC126806692, LOC126806693, LOC126806694, LOC126806695, LOC126806696, LOC126806697, LOC126806698, LOC126806699, LOC126806700, LOC126806701, LOC126806702, LOC126806703, LOC126806704, LOC126806705, LOC126806706, LOC126806707, LOC126806708, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC126806720, LOC126806721, LOC126806722, LOC126806723, LOC126806724, LOC126806725, LOC126806726, LOC126806727, LOC126806728, LOC126806729, LOC126806730, LOC126806731, LOC126806732, LOC126806733, LOC126806734, LOC126806735, LOC126806736, LOC126806737, LOC126806738, LOC126806739, LOC126806740, LOC126806741, LOC126806742, LOC128031834, LOC339902, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MDFIC2, MIR1284, MIR1324, MIR3136, MIR3923, MIR4272, MIR4273, MIR4444-2, MIR4795, MIR548BB, MIR5688, MITF, PDE12, PDHB, PDZRN3, PDZRN3-AS1, POU1F1, PPP4R2, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PROK2, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, PXK, ROBO1, ROBO2, RPP14, RYBP, SAMMSON, SCAANT1, SHQ1, SLC25A26, SLMAP, SNORA95, SNTN, SUCLG2, SUCLG2-DT, SYNPR, SYNPR-AS1, TAFA1, TAFA4, THOC7, THOC7-AS1, TMF1, UBA3, VGLL3, ZNF654, ZNF717		See cases	Pathogenic (Jul 25, 2012)	no assertion criteria provided
Select item 577722.	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1 GRCh37: Chr3:64746924-78459248 GRCh38: Chr3:64761248-78410098	ADAMTS9-AS2, ARL6IP5, CNTN3, EBLN2, EIF4E3, EOGT, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRG2C, FRMD4B, GPR27, GXYLT2, KBTBD8, LINC00870, LINC00877, LINC00960, LINC02005, LINC02018, LINC02040, LINC02047, LINC02077, LMOD3, LOC101927296, LOC105377143, LOC105377146, LOC105377162, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC110120604, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC111562376, LOC111589208, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC115995512, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725149, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC126806705, LOC126806706, LOC126806707, LOC126806708, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC126806720, LOC126806721, LOC126806722, LOC126806723, LOC126806724, LOC126806725, LOC126806726, LOC126806727, LOC126806728, LOC126806729, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MDFIC2, MIR1284, MIR1324, MIR3136, MIR4272, MIR4273, MIR4444-2, MITF, PDZRN3, PDZRN3-AS1, PPP4R2, PROK2, ROBO2, RYBP, SAMMSON, SHQ1, SLC25A26, SUCLG2, SUCLG2-DT, TAFA1, TAFA4, TMF1, UBA3, ZNF717		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1443393.	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1 GRCh37: Chr3:67441430-73463152 GRCh38: Chr3:67391006-73414001	ARL6IP5, EBLN2, EIF4E3, EOGT, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRMD4B, GPR27, GXYLT2, LINC00870, LINC00877, LMOD3, LOC105377146, LOC105377162, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC110120604, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC111589208, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC115995512, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725149, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, MDFIC2, MIR1284, MIR3136, MITF, PDZRN3, PPP4R2, PROK2, RYBP, SAMMSON, SHQ1, SUCLG2, SUCLG2-DT, TAFA1, TAFA4, TMF1, UBA3		See cases	Pathogenic (Dec 30, 2009)	no assertion criteria provided
Select item 1515044.	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3 GRCh37: Chr3:68378130-76813470 GRCh38: Chr3:68328980-76764319	ARL6IP5, CNTN3, EBLN2, EIF4E3, EOGT, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRG2C, FRMD4B, GPR27, GXYLT2, LINC00870, LINC00877, LINC00960, LINC02005, LINC02018, LINC02047, LMOD3, LOC101927296, LOC105377146, LOC105377162, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC110120604, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC111589208, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC115995512, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725149, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC126806720, LOC126806721, LOC126806722, LOC126806723, LOC126806724, MDFIC2, MIR1284, MIR1324, MIR3136, MIR4273, MIR4444-2, MITF, PDZRN3, PDZRN3-AS1, PPP4R2, PROK2, ROBO2, RYBP, SAMMSON, SHQ1, TAFA1, TAFA4, TMF1, UBA3, ZNF717		See cases	Likely pathogenic (Jan 25, 2013)	no assertion criteria provided
Select item 1541375.	GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3 GRCh37: Chr3:69477219-71026999 GRCh38: Chr3:69428068-70977848	FOXP1, FRMD4B, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC111589208, LOC112935956, LOC123002301, LOC123002302, LOC126806711, LOC126806712, LOC126806713, LOC126806714, MDFIC2, MITF, SAMMSON		See cases	Likely benign (Jul 18, 2014)	no assertion criteria provided
Select item 12941176.	Single allele GRCh37: Chr3:69788321 GRCh38: Chr3:69739170	LOC107988042, MITF		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 16975767.	NM_001354604.2(MITF):c.-29C>T GRCh37: Chr3:69788720 GRCh38: Chr3:69739569	LOC107988042, MITF		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 5050508.	NM_001354604.2(MITF):c.60G>T (p.Glu20Asp) GRCh37: Chr3:69788808 GRCh38: Chr3:69739657	MITF	E20D	not specified	Uncertain significance (Jun 2, 2016)	criteria provided, single submitter
Select item 11950489.	NM_001354604.2(MITF):c.104+68C>G GRCh37: Chr3:69788920 GRCh38: Chr3:69739769	MITF		not provided	Likely benign (Jun 21, 2018)	criteria provided, single submitter
Select item 119777210.	NM_001354604.2(MITF):c.104+244C>A GRCh37: Chr3:69789096 GRCh38: Chr3:69739945	MITF		not provided	Likely benign (Jun 21, 2018)	criteria provided, single submitter
Select item 66967511.	NM_001354604.2(MITF):c.104+23992G>T GRCh37: Chr3:69812844 GRCh38: Chr3:69763693	MITF		not provided	Likely benign (Jun 12, 2018)	criteria provided, single submitter
Select item 129111312.	NM_001354604.2(MITF):c.104+24051C>T GRCh37: Chr3:69812903 GRCh38: Chr3:69763752	MITF		not provided	Benign (Jun 21, 2018)	criteria provided, single submitter
Select item 93203813.	NM_001354604.2(MITF):c.104+24188C>G GRCh37: Chr3:69813040 GRCh38: Chr3:69763889	MITF	F16L	Tietz syndrome	Uncertain significance (May 9, 2019)	criteria provided, single submitter
Select item 128444114.	NM_001354604.2(MITF):c.104+24216T>C GRCh37: Chr3:69813068 GRCh38: Chr3:69763917	MITF		Hereditary cancer-predisposing syndrome	Likely benign (Oct 15, 2020)	criteria provided, single submitter
Select item 22885415.	NM_001354604.2(MITF):c.104+24226G>A GRCh37: Chr3:69813078 GRCh38: Chr3:69763927	MITF	C29Y	Hereditary cancer-predisposing syndrome, not specified	Conflicting interpretations of pathogenicity (Apr 15, 2021)	criteria provided, conflicting interpretations
Select item 167827816.	NM_001354604.2(MITF):c.104+24240del GRCh37: Chr3:69813091 GRCh38: Chr3:69763940	MITF	S34fs	not provided	Uncertain significance (Jul 9, 2020)	criteria provided, single submitter
Select item 22754717.	NM_001354604.2(MITF):c.105-12836C>T GRCh37: Chr3:69915449 GRCh38: Chr3:69866298	MITF	A3V	not specified	Likely benign (Jun 29, 2015)	criteria provided, single submitter
Select item 50533418.	NM_001354604.2(MITF):c.105-12789C>T GRCh37: Chr3:69915496 GRCh38: Chr3:69866345	MITF	L19F	not specified	Uncertain significance (Oct 18, 2016)	criteria provided, single submitter
Select item 169757719.	NM_001354604.2(MITF):c.105-40T>C GRCh37: Chr3:69928245 GRCh38: Chr3:69879094	MITF		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 92997120.	NM_001354604.2(MITF):c.114C>T (p.Ala38=) GRCh37: Chr3:69928294 GRCh38: Chr3:69879143	MITF		not specified	Likely benign (Nov 24, 2014)	criteria provided, single submitter
Select item 51716921.	NM_001354604.2(MITF):c.217C>T (p.Arg73Cys) GRCh37: Chr3:69928397 GRCh38: Chr3:69879246	MITF	R73C, R56C, R72C, R21C, R57C	not specified	Uncertain significance (Jan 10, 2017)	criteria provided, single submitter
Select item 67862722.	NM_001354604.2(MITF):c.246G>A (p.Ala82=) GRCh37: Chr3:69928426 GRCh38: Chr3:69879275	MITF		not provided	Likely benign (Mar 13, 2018)	criteria provided, single submitter
Select item 80500623.	NM_001354604.2(MITF):c.316C>T (p.Leu106Phe) GRCh37: Chr3:69928496 GRCh38: Chr3:69879345	MITF	L54F, L106F, L90F, L105F, L89F	not provided	Conflicting interpretations of pathogenicity (Oct 24, 2019)	criteria provided, conflicting interpretations
Select item 22885524.	NM_001354604.2(MITF):c.329C>T (p.Thr110Met) GRCh37: Chr3:69928509 GRCh38: Chr3:69879358	MITF	T110M, T109M, T58M, T93M, T94M	not specified	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22672725.	NM_001354604.2(MITF):c.330G>A (p.Thr110=) GRCh37: Chr3:69928510 GRCh38: Chr3:69879359	MITF		not specified, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169757826.	NM_001354604.2(MITF):c.345A>G (p.Glu115=) GRCh37: Chr3:69928525 GRCh38: Chr3:69879374	MITF		not specified	Likely benign (Aug 15, 2023)	criteria provided, single submitter
Select item 67975727.	NM_001354604.2(MITF):c.354+143G>A GRCh37: Chr3:69928677 GRCh38: Chr3:69879526	MITF		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 124547928.	NM_001354604.2(MITF):c.354+297A>G GRCh37: Chr3:69928831 GRCh38: Chr3:69879680	MITF		not provided	Benign (Dec 9, 2018)	criteria provided, single submitter
Select item 124972229.	NM_001354604.2(MITF):c.354+327T>C GRCh37: Chr3:69928861 GRCh38: Chr3:69879710	MITF		not provided	Benign (Aug 3, 2018)	criteria provided, single submitter
Select item 14686530.	GRCh38/hg38 3p13(chr3:69914878-70489155)x1 GRCh37: Chr3:69964029-70538306 GRCh38: Chr3:69914878-70489155	LOC107988030, LOC107988038, LOC112935956, LOC126806712, MDFIC2, MITF, SAMMSON		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 90202531.	NM_001354604.2(MITF):c.355-1219G>A GRCh37: Chr3:69985754 GRCh38: Chr3:69936603	LOC107988030, MITF		Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22836032.	NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del GRCh37: Chr3:69985770-70014477 GRCh38: Chr3:69936619-69965326	LOC107988030, MITF		Rare genetic deafness	Pathogenic (Jan 4, 2016)	criteria provided, single submitter
Select item 34649333.	NM_001354604.2(MITF):c.355-1135G>A GRCh37: Chr3:69985838 GRCh38: Chr3:69936687	LOC107988030, MITF		Melanoma, cutaneous malignant, susceptibility to, 8, not specified, Waardenburg syndrome type 2A, Tietz syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 120081034.	NM_001354604.2(MITF):c.355-1127C>T GRCh37: Chr3:69985846 GRCh38: Chr3:69936695	LOC107988030, MITF		not provided	Likely benign (Dec 18, 2018)	criteria provided, single submitter
Select item 67902735.	NM_001354604.2(MITF):c.355-1113C>T GRCh37: Chr3:69985860 GRCh38: Chr3:69936709	LOC107988030, MITF		not provided, Waardenburg syndrome type 2A, Tietz syndrome	Benign/Likely benign (May 25, 2018)	criteria provided, multiple submitters, no conflicts
Select item 98183136.	NM_000248.4(MITF):c.1A>G (p.Met1Val) GRCh37: Chr3:69985874 GRCh38: Chr3:69936723	LOC107988030, MITF	M1V	Hereditary breast ovarian cancer syndrome	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 220085137.	NM_000248.4(MITF):c.3G>A (p.Met1Ile) GRCh37: Chr3:69985876 GRCh38: Chr3:69936725	LOC107988030, MITF	M1I	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 200885438.	NM_000248.4(MITF):c.19T>C (p.Tyr7His) GRCh37: Chr3:69985892 GRCh38: Chr3:69936741	MITF	Y7H	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 172202039.	NM_000248.4(MITF):c.26A>T (p.His9Leu) GRCh37: Chr3:69985899 GRCh38: Chr3:69936748	MITF	H9L	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 207175140.	NM_000248.4(MITF):c.29A>G (p.Tyr10Cys) GRCh37: Chr3:69985902 GRCh38: Chr3:69936751	MITF	Y10C	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 1427041.	NM_000248.4(MITF):c.33+1G>A GRCh37: Chr3:69985907 GRCh38: Chr3:69936756	MITF		Waardenburg syndrome type 2A	Pathogenic (Nov 1, 1994)	no assertion criteria provided
Select item 202057942.	NM_000248.4(MITF):c.33+2T>C GRCh37: Chr3:69985908 GRCh38: Chr3:69936757	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 54563943.	NM_001354604.2(MITF):c.355-1062G>C GRCh37: Chr3:69985911 GRCh38: Chr3:69936760	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A, Waardenburg syndrome type 2A	Pathogenic/Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212670744.	NM_001354604.2(MITF):c.355-1057A>T GRCh37: Chr3:69985916 GRCh38: Chr3:69936765	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 213356345.	NM_001354604.2(MITF):c.355-1050C>A GRCh37: Chr3:69985923 GRCh38: Chr3:69936772	MITF		Waardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 127066246.	NM_001354604.2(MITF):c.355-857dup GRCh37: Chr3:69986098-69986099 GRCh38: Chr3:69936947-69936948	MITF		not provided	Benign (Aug 17, 2019)	criteria provided, single submitter
Select item 67784447.	NM_001354604.2(MITF):c.355-829A>G GRCh37: Chr3:69986144 GRCh38: Chr3:69936993	MITF		not provided	Likely benign (Jun 18, 2018)	criteria provided, single submitter
Select item 67777348.	NM_001354604.2(MITF):c.355-194A>C GRCh37: Chr3:69986779 GRCh38: Chr3:69937628	MITF		not provided	Benign (Jun 18, 2018)	criteria provided, single submitter
Select item 22885649.	NM_001354604.2(MITF):c.355-8A>G GRCh37: Chr3:69986965 GRCh38: Chr3:69937814	MITF		not specified	Uncertain significance (Aug 18, 2015)	criteria provided, single submitter
Select item 73508850.	NM_001354604.2(MITF):c.355-6G>A GRCh37: Chr3:69986967 GRCh38: Chr3:69937816	MITF		not provided	Likely benign (Feb 1, 2018)	criteria provided, single submitter
Select item 22672851.	NM_001354604.2(MITF):c.366C>T (p.His122=) GRCh37: Chr3:69986984 GRCh38: Chr3:69937833	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Hereditary cancer-predisposing syndrome, not provided, not specified, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, Tietz syndrome	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 198141652.	NM_001354604.2(MITF):c.369C>T (p.Leu123=) GRCh37: Chr3:69986987 GRCh38: Chr3:69937836	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 229745253.	NM_001354604.2(MITF):c.370G>A (p.Glu124Lys) GRCh37: Chr3:69986988 GRCh38: Chr3:69937837	MITF	E107K, E108K, E123K, E17K, E72K, E124K	Inborn genetic diseases, not provided	Uncertain significance (Feb 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131506354.	NM_001354604.2(MITF):c.384G>A (p.Lys128=) GRCh37: Chr3:69987002 GRCh38: Chr3:69937851	MITF		not provided	Uncertain significance (Jan 24, 2020)	criteria provided, single submitter
Select item 152607155.	NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter) GRCh37: Chr3:69987005 GRCh38: Chr3:69937854	MITF	Y112, Y113, Y128, Y129, Y22, Y77	Waardenburg syndrome type 2A	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 211842856.	NM_001354604.2(MITF):c.394C>G (p.Gln132Glu) GRCh37: Chr3:69987012 GRCh38: Chr3:69937861	MITF	Q116E, Q131E, Q25E, Q115E, Q132E, Q80E	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 49336457.	NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) GRCh37: Chr3:69987012 GRCh38: Chr3:69937861	MITF	Q25K, Q132K, Q80K, Q116K, Q115K, Q131K	Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, not provided, not specified	Uncertain significance (Apr 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212796558.	NM_001354604.2(MITF):c.395A>T (p.Gln132Leu) GRCh37: Chr3:69987013 GRCh38: Chr3:69937862	MITF	Q132L, Q131L, Q25L, Q115L, Q116L, Q80L	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 87207759.	NM_001354604.2(MITF):c.397C>T (p.Gln133Ter) GRCh37: Chr3:69987015 GRCh38: Chr3:69937864	MITF	Q116, Q132, Q81, Q133, Q117, Q26	not provided	Pathogenic (Apr 1, 2019)	criteria provided, single submitter
Select item 171260860.	NM_001354604.2(MITF):c.406C>T (p.Arg136Trp) GRCh37: Chr3:69987024 GRCh38: Chr3:69937873	MITF	R119W, R120W, R135W, R136W, R29W, R84W	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A, not provided	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169227261.	NM_001354604.2(MITF):c.407G>A (p.Arg136Gln) GRCh37: Chr3:69987025 GRCh38: Chr3:69937874	MITF	R119Q, R120Q, R135Q, R136Q, R29Q, R84Q	Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 30, 2021)	criteria provided, single submitter
Select item 118472262.	NM_001354604.2(MITF):c.415G>A (p.Val139Ile) GRCh37: Chr3:69987033 GRCh38: Chr3:69937882	MITF	V122I, V123I, V138I, V139I, V32I, V87I	not provided, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198639863.	NM_001354604.2(MITF):c.450A>T (p.Lys150Asn) GRCh37: Chr3:69987068 GRCh38: Chr3:69937917	MITF	K134N, K98N, K149N, K43N, K133N, K150N	Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 131371864.	NM_001354604.2(MITF):c.451C>T (p.His151Tyr) GRCh37: Chr3:69987069 GRCh38: Chr3:69937918	MITF	H134Y, H135Y, H150Y, H151Y, H44Y, H99Y	not provided	Uncertain significance (Nov 30, 2020)	criteria provided, single submitter
Select item 66685765.	NM_001354604.2(MITF):c.452A>C (p.His151Pro) GRCh37: Chr3:69987070 GRCh38: Chr3:69937919	MITF	H135P, H44P, H99P, H134P, H151P, H150P	not specified	Uncertain significance (Aug 8, 2018)	criteria provided, single submitter
Select item 197298766.	NM_001354604.2(MITF):c.470G>A (p.Ser157Asn) GRCh37: Chr3:69987088 GRCh38: Chr3:69937937	MITF	S140N, S141N, S156N, S105N, S157N, S50N	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 130090167.	NM_001354604.2(MITF):c.471C>T (p.Ser157=) GRCh37: Chr3:69987089 GRCh38: Chr3:69937938	MITF		not provided	Uncertain significance (Apr 15, 2021)	criteria provided, single submitter
Select item 210661968.	NM_001354604.2(MITF):c.475C>T (p.Pro159Ser) GRCh37: Chr3:69987093 GRCh38: Chr3:69937942	MITF	P107S, P52S, P159S, P142S, P143S, P158S	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 131133069.	NM_001354604.2(MITF):c.484A>C (p.Asn162His) GRCh37: Chr3:69987102 GRCh38: Chr3:69937951	MITF	N110H, N145H, N146H, N161H, N162H, N55H	not provided	Uncertain significance (Dec 24, 2019)	criteria provided, single submitter
Select item 171737070.	NM_001354604.2(MITF):c.486C>A (p.Asn162Lys) GRCh37: Chr3:69987104 GRCh38: Chr3:69937953	MITF	N110K, N145K, N146K, N161K, N162K, N55K	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 192932771.	NM_001354604.2(MITF):c.493G>C (p.Gly165Arg) GRCh37: Chr3:69987111 GRCh38: Chr3:69937960	MITF	G148R, G165R, G149R, G58R, G113R, G164R	not provided, Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171881872.	NM_001354604.2(MITF):c.493G>A (p.Gly165Ser) GRCh37: Chr3:69987111 GRCh38: Chr3:69937960	MITF	G113S, G148S, G149S, G164S, G165S, G58S	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 207022973.	NM_001354604.2(MITF):c.494G>T (p.Gly165Val) GRCh37: Chr3:69987112 GRCh38: Chr3:69937961	MITF	G148V, G149V, G164V, G58V, G113V, G165V	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 119758774.	NM_001354604.2(MITF):c.495C>T (p.Gly165=) GRCh37: Chr3:69987113 GRCh38: Chr3:69937962	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197399775.	NM_001354604.2(MITF):c.496G>A (p.Asp166Asn) GRCh37: Chr3:69987114 GRCh38: Chr3:69937963	MITF	D150N, D59N, D166N, D114N, D149N, D165N	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 171757676.	NM_001354604.2(MITF):c.505A>C (p.Met169Leu) GRCh37: Chr3:69987123 GRCh38: Chr3:69937972	MITF	M117L, M152L, M153L, M168L, M169L, M62L	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34649477.	NM_001354604.2(MITF):c.505A>G (p.Met169Val) GRCh37: Chr3:69987123 GRCh38: Chr3:69937972	MITF	M62V, M117V, M152V, M153V, M168V, M169V	Waardenburg syndrome type 2A, Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, not provided	Conflicting interpretations of pathogenicity (Apr 29, 2022)	criteria provided, conflicting interpretations
Select item 131467378.	NM_001354604.2(MITF):c.508C>A (p.Pro170Thr) GRCh37: Chr3:69987126 GRCh38: Chr3:69937975	MITF	P118T, P153T, P154T, P169T, P170T, P63T	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171510179.	NM_001354604.2(MITF):c.512C>T (p.Pro171Leu) GRCh37: Chr3:69987130 GRCh38: Chr3:69937979	MITF	P119L, P154L, P155L, P170L, P171L, P64L	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 119192780.	NM_001354604.2(MITF):c.513G>A (p.Pro171=) GRCh37: Chr3:69987131 GRCh38: Chr3:69937980	MITF		not specified, not provided, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203793881.	NM_001354604.2(MITF):c.519G>A (p.Pro173=) GRCh37: Chr3:69987137 GRCh38: Chr3:69937986	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 180097382.	NM_001354604.2(MITF):c.520G>A (p.Gly174Arg) GRCh37: Chr3:69987138 GRCh38: Chr3:69937987	MITF	G122R, G157R, G158R, G173R, G174R, G67R	not provided	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 121331383.	NM_001354604.2(MITF):c.528C>T (p.Ser176=) GRCh37: Chr3:69987146 GRCh38: Chr3:69937995	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Likely benign (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119771084.	NM_001354604.2(MITF):c.529G>A (p.Ala177Thr) GRCh37: Chr3:69987147 GRCh38: Chr3:69937996	MITF	A125T, A160T, A161T, A176T, A177T, A70T	not provided, Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Jun 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 90291485.	NM_001354604.2(MITF):c.531A>G (p.Ala177=) GRCh37: Chr3:69987149 GRCh38: Chr3:69937998	MITF		Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 66671386.	NM_001354604.2(MITF):c.537C>T (p.Asn179=) GRCh37: Chr3:69987155 GRCh38: Chr3:69938004	MITF		not specified, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A, not provided	Conflicting interpretations of pathogenicity (Jun 28, 2023)	criteria provided, conflicting interpretations
Select item 199679987.	NM_001354604.2(MITF):c.540C>A (p.Ser180Arg) GRCh37: Chr3:69987158 GRCh38: Chr3:69938007	MITF	S179R, S163R, S73R, S128R, S164R, S180R	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 119093388.	NM_001354604.2(MITF):c.558G>A (p.Thr186=) GRCh37: Chr3:69987176 GRCh38: Chr3:69938025	MITF		not provided	Likely benign (Aug 19, 2020)	criteria provided, single submitter
Select item 219239889.	NM_001354604.2(MITF):c.564C>A (p.Asn188Lys) GRCh37: Chr3:69987182 GRCh38: Chr3:69938031	MITF	N136K, N187K, N188K, N171K, N172K, N81K	Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80198190.	NM_001354604.2(MITF):c.579del (p.Glu194fs) GRCh37: Chr3:69987193 GRCh38: Chr3:69938042	MITF	E142fs, E177fs, E178fs, E194fs, E193fs, E87fs	Tietz syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 211477791.	NM_001354604.2(MITF):c.582+8A>G GRCh37: Chr3:69987208 GRCh38: Chr3:69938057	MITF		Waardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 197244892.	NM_001354604.2(MITF):c.582+11TCTCC[4] GRCh37: Chr3:69987210-69987211 GRCh38: Chr3:69938059-69938060	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 197462593.	NM_001354604.2(MITF):c.582+11TCTCC[2] GRCh37: Chr3:69987211-69987215 GRCh38: Chr3:69938060-69938064	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 67689294.	NM_001354604.2(MITF):c.582+126C>T GRCh37: Chr3:69987326 GRCh38: Chr3:69938175	MITF		not provided	Benign (Jun 20, 2018)	criteria provided, single submitter
Select item 67976595.	NM_001354604.2(MITF):c.582+280C>T GRCh37: Chr3:69987480 GRCh38: Chr3:69938329	MITF		not provided	Likely benign (Jun 18, 2018)	criteria provided, single submitter
Select item 104967196.	NM_001354604.2(MITF):c.582+307T>G GRCh37: Chr3:69987507 GRCh38: Chr3:69938356	MITF	M89R	not provided	Uncertain significance	no assertion criteria provided
Select item 67977597.	NM_001354604.2(MITF):c.582+491G>A GRCh37: Chr3:69987691 GRCh38: Chr3:69938540	MITF		not provided	Likely benign (Jun 20, 2018)	criteria provided, single submitter
Select item 67972098.	NM_001354604.2(MITF):c.582+507C>T GRCh37: Chr3:69987707 GRCh38: Chr3:69938556	MITF		not provided	Benign (Jun 15, 2018)	criteria provided, single submitter
Select item 202383799.	NM_001354604.2(MITF):c.583-14_583-3del GRCh37: Chr3:69988226-69988237 GRCh38: Chr3:69939075-69939086	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, Tietz syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 1337965100.	NM_001354604.2(MITF):c.583-9T>C GRCh37: Chr3:69988240 GRCh38: Chr3:69939089	MITF		not provided, not specified	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts

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