ClinVar for MedGen (Select 98213) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24226321.	NC_000003.11:g.(?_69987065)_(69997137_?)del GRCh37: Chr3:69987065-69997137	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 24226312.	NC_000003.11:g.(?_70013978)_(70014399_?)dup GRCh37: Chr3:70013978-70014399	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 24226303.	NC_000003.11:g.(?_69985874)_(69990502_?)del GRCh37: Chr3:69985874-69990502	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 24226294.	NC_000003.11:g.(?_70013978)_(70014399_?)del GRCh37: Chr3:70013978-70014399	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 24226285.	NC_000003.11:g.(?_69985874)_(70014399_?)del GRCh37: Chr3:69985874-70014399	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 24193256.	NM_001354604.2(MITF):c.1396G>C (p.Glu466Gln) GRCh37: Chr3:70014214 GRCh38: Chr3:69965063	MITF	E297Q, E353Q, E359Q, E408Q, E443Q, E444Q, E459Q, E460Q, E465Q, E466Q	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, MITF-related condition	Uncertain significance (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22034017.	NM_001354604.2(MITF):c.815del (p.Pro272fs) GRCh37: Chr3:69998250 GRCh38: Chr3:69949099	MITF	P220fs, P256fs, P272fs, P109fs, P165fs, P255fs, P271fs	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Pathogenic (Jun 12, 2022)	criteria provided, single submitter
Select item 22008518.	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 21964169.	NM_001354604.2(MITF):c.1420C>T (p.Pro474Ser) GRCh37: Chr3:70014238 GRCh38: Chr3:69965087	MITF	P367S, P452S, P473S, P474S, P305S, P361S, P416S, P451S, P467S, P468S	Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 219239810.	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 219238511.	NM_001354604.2(MITF):c.1383C>T (p.Leu461=) GRCh37: Chr3:70014201 GRCh38: Chr3:69965050	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 218817412.	NM_001354604.2(MITF):c.986A>G (p.Asp329Gly) GRCh37: Chr3:70005636 GRCh38: Chr3:69956485	MITF	D271G, D306G, D307G, D323G, D322G, D160G, D222G, D328G, D216G, D329G	not provided, Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218598813.	NM_001354604.2(MITF):c.956-4G>A GRCh37: Chr3:70005602 GRCh38: Chr3:69956451	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 218067114.	NM_001354604.2(MITF):c.1353G>A (p.Thr451=) GRCh37: Chr3:70014171 GRCh38: Chr3:69965020	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Uncertain significance (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217429315.	NM_001354604.2(MITF):c.1296C>T (p.Ser432=) GRCh37: Chr3:70014114 GRCh38: Chr3:69964963	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 216726116.	NM_001354604.2(MITF):c.1276C>T (p.Pro426Ser) GRCh37: Chr3:70014094 GRCh38: Chr3:69964943	MITF	P368S, P404S, P426S, P319S, P403S, P425S, P420S, P257S, P313S, P419S	Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, Tietz syndrome, not provided	Uncertain significance (Aug 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213442017.	NM_001354604.2(MITF):c.1032-16T>C GRCh37: Chr3:70008408 GRCh38: Chr3:69959257	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213417118.	NM_001354604.2(MITF):c.1315C>G (p.His439Asp) GRCh37: Chr3:70014133 GRCh38: Chr3:69964982	MITF	H270D, H416D, H432D, H438D, H439D, H326D, H332D, H433D, H381D, H417D	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213356319.	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 213171720.	NM_001354604.2(MITF):c.684T>C (p.Asp228=) GRCh37: Chr3:69990404 GRCh38: Chr3:69941253	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212796521.	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 212738022.	NM_001354604.2(MITF):c.1080T>C (p.Tyr360=) GRCh37: Chr3:70008472 GRCh38: Chr3:69959321	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 212670723.	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 212624524.	NM_001354604.2(MITF):c.879A>G (p.Thr293=) GRCh37: Chr3:69998318 GRCh38: Chr3:69949167	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 212201325.	NM_001354604.2(MITF):c.1351A>G (p.Thr451Ala) GRCh37: Chr3:70014169 GRCh38: Chr3:69965018	MITF	T282A, T428A, T338A, T429A, T444A, T393A, T445A, T451A, T344A, T450A	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 211880126.	NM_001354604.2(MITF):c.880+20G>A GRCh37: Chr3:69998339 GRCh38: Chr3:69949188	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 211842827.	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 211567228.	NM_001354604.2(MITF):c.766C>A (p.Pro256Thr) GRCh37: Chr3:69998205 GRCh38: Chr3:69949054	MITF	P204T, P256T, P149T, P255T, P93T, P239T, P240T	Waardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 211477729.	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 211389330.	NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp) GRCh37: Chr3:70014193 GRCh38: Chr3:69965042	MITF	N437D, N452D, N401D, N290D, N346D, N352D, N453D, N458D, N459D, N436D	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A, not provided	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211334431.	NM_001354604.2(MITF):c.1513C>T (p.Pro505Ser) GRCh37: Chr3:70014331 GRCh38: Chr3:69965180	MITF	P336S, P499S, P504S, P505S, P398S, P447S, P483S, P498S, P392S, P482S	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Oct 15, 2022)	criteria provided, single submitter
Select item 211103132.	NM_001354604.2(MITF):c.881-15C>T GRCh37: Chr3:70000948 GRCh38: Chr3:69951797	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 211081233.	NM_001354604.2(MITF):c.1265T>C (p.Ile422Thr) GRCh37: Chr3:70014083 GRCh38: Chr3:69964932	MITF	I421T, I253T, I309T, I315T, I415T, I422T, I364T, I399T, I400T, I416T	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 211039434.	NM_001354604.2(MITF):c.762G>A (p.Thr254=) GRCh37: Chr3:69990482 GRCh38: Chr3:69941331	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 210896435.	NM_001354604.2(MITF):c.1179+3A>G GRCh37: Chr3:70008574 GRCh38: Chr3:69959423	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 210661936.	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 210587237.	NM_001354604.2(MITF):c.1279G>A (p.Val427Ile) GRCh37: Chr3:70014097 GRCh38: Chr3:69964946	MITF	V258I, V320I, V369I, V405I, V426I, V427I, V404I, V421I, V314I, V420I	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 210309338.	NM_001354604.2(MITF):c.791T>C (p.Leu264Pro) GRCh37: Chr3:69998230 GRCh38: Chr3:69949079	MITF	L247P, L263P, L264P, L101P, L157P, L212P, L248P	Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 210303439.	NM_001354604.2(MITF):c.1134G>C (p.Gln378His) GRCh37: Chr3:70008526 GRCh38: Chr3:69959375	MITF	Q356H, Q371H, Q378H, Q320H, Q355H, Q209H, Q265H, Q372H, Q377H, Q271H	Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 210170140.	NM_001354604.2(MITF):c.1055C>T (p.Thr352Ile) GRCh37: Chr3:70008447 GRCh38: Chr3:69959296	MITF	T183I, T329I, T330I, T294I, T245I, T351I, T352I, T239I, T345I, T346I	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 210100841.	NM_001354604.2(MITF):c.965G>A (p.Arg322Lys) GRCh37: Chr3:70005615 GRCh38: Chr3:69956464	MITF	R264K, R299K, R300K, R153K, R322K, R209K, R315K, R316K, R321K, R215K	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Uncertain significance (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 210050542.	NM_001354604.2(MITF):c.763-16G>C GRCh37: Chr3:69998186 GRCh38: Chr3:69949035	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 209941643.	NM_001354604.2(MITF):c.1196C>T (p.Ala399Val) GRCh37: Chr3:70014014 GRCh38: Chr3:69964863	MITF	A230V, A376V, A392V, A399V, A292V, A398V, A286V, A341V, A393V, A377V	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209726244.	NM_001354604.2(MITF):c.1541G>A (p.Arg514Lys) GRCh37: Chr3:70014359 GRCh38: Chr3:69965208	MITF	R456K, R513K, R345K, R407K, R492K, R491K, R507K, R401K, R508K, R514K	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 209678645.	NM_001354604.2(MITF):c.773C>T (p.Ser258Leu) GRCh37: Chr3:69998212 GRCh38: Chr3:69949061	MITF	S151L, S241L, S206L, S242L, S257L, S258L, S95L	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 209310446.	NM_001354604.2(MITF):c.1306C>T (p.Leu436Phe) GRCh37: Chr3:70014124 GRCh38: Chr3:69964973	MITF	L267F, L436F, L323F, L429F, L430F, L329F, L378F, L413F, L414F, L435F	Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, Tietz syndrome	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 209135747.	NM_001354604.2(MITF):c.1416T>C (p.Ser472=) GRCh37: Chr3:70014234 GRCh38: Chr3:69965083	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 207779448.	NM_001354604.2(MITF):c.1502C>T (p.Ser501Phe) GRCh37: Chr3:70014320 GRCh38: Chr3:69965169	MITF	S332F, S478F, S494F, S388F, S479F, S500F, S501F, S394F, S443F, S495F	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 207558849.	NM_001354604.2(MITF):c.900G>A (p.Glu300=) GRCh37: Chr3:70000982 GRCh38: Chr3:69951831	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 207405650.	NM_001354604.2(MITF):c.690C>T (p.Ile230=) GRCh37: Chr3:69990410 GRCh38: Chr3:69941259	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 207175151.	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 207056652.	NM_001354604.2(MITF):c.1179+11T>C GRCh37: Chr3:70008582 GRCh38: Chr3:69959431	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 207022953.	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 205768154.	NM_001354604.2(MITF):c.763-4C>G GRCh37: Chr3:69998198 GRCh38: Chr3:69949047	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 205126455.	NM_001354604.2(MITF):c.1404C>T (p.Asn468=) GRCh37: Chr3:70014222 GRCh38: Chr3:69965071	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 204703956.	NM_001354604.2(MITF):c.817C>G (p.Pro273Ala) GRCh37: Chr3:69998256 GRCh38: Chr3:69949105	MITF	P221A, P256A, P272A, P273A, P110A, P166A, P257A	not provided, Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204055457.	NM_001354604.2(MITF):c.1032-14C>T GRCh37: Chr3:70008410 GRCh38: Chr3:69959259	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 203885458.	NM_001354604.2(MITF):c.1031+13G>A GRCh37: Chr3:70005694 GRCh38: Chr3:69956543	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 203793859.	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 203688960.	NM_001354604.2(MITF):c.957T>C (p.Ile319=) GRCh37: Chr3:70005607 GRCh38: Chr3:69956456	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 203493561.	NM_001354604.2(MITF):c.918G>A (p.Leu306=) GRCh37: Chr3:70001000 GRCh38: Chr3:69951849	MITF		Waardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 203485662.	NM_001354604.2(MITF):c.953_955+3del GRCh37: Chr3:70001035-70001040 GRCh38: Chr3:69951884-69951889	MITF		Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A	Likely pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 202989663.	NM_001354604.2(MITF):c.1578T>C (p.Cys526=) GRCh37: Chr3:70014396 GRCh38: Chr3:69965245	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 202498064.	NM_001354604.2(MITF):c.643_644dup (p.Ser216fs) GRCh37: Chr3:69988303-69988304 GRCh38: Chr3:69939152-69939153	MITF	S216fs, S53fs, S109fs, S200fs, S215fs, S164fs, S199fs	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 202383765.	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 202131566.	NM_001354604.2(MITF):c.708T>C (p.Ser236=) GRCh37: Chr3:69990428 GRCh38: Chr3:69941277	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 202057967.	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 202047368.	NM_001354604.2(MITF):c.764T>A (p.Leu255Ter) GRCh37: Chr3:69998203 GRCh38: Chr3:69949052	MITF	L203, L254, L148, L239, L255, L238, L92*	Waardenburg syndrome type 2A, Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8	Pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 201694569.	NM_001354604.2(MITF):c.1032-14C>A GRCh37: Chr3:70008410 GRCh38: Chr3:69959259	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201604870.	NM_001354604.2(MITF):c.1032-17C>G GRCh37: Chr3:70008407 GRCh38: Chr3:69959256	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 201345171.	NM_001354604.2(MITF):c.1303C>G (p.Leu435Val) GRCh37: Chr3:70014121 GRCh38: Chr3:69964970	MITF	L412V, L413V, L429V, L435V, L266V, L322V, L377V, L428V, L434V, L328V	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201096472.	NM_001354604.2(MITF):c.881-18C>T GRCh37: Chr3:70000945 GRCh38: Chr3:69951794	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 200885473.	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 200583974.	NM_001354604.2(MITF):c.1180-7A>T GRCh37: Chr3:70013991 GRCh38: Chr3:69964840	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200579775.	NM_001354604.2(MITF):c.681C>T (p.Ile227=) GRCh37: Chr3:69990401 GRCh38: Chr3:69941250	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 200545476.	NM_001354604.2(MITF):c.890T>C (p.Phe297Ser) GRCh37: Chr3:70000972 GRCh38: Chr3:69951821	MITF	F190S, F297S, F296S	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200366777.	NM_001354604.2(MITF):c.721A>G (p.Ile241Val) GRCh37: Chr3:69990441 GRCh38: Chr3:69941290	MITF	I224V, I240V, I189V, I134V, I241V, I78V, I225V	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200107978.	NM_001354604.2(MITF):c.1137G>A (p.Lys379=) GRCh37: Chr3:70008529 GRCh38: Chr3:69959378	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 199871979.	NM_001354604.2(MITF):c.1537C>A (p.Arg513=) GRCh37: Chr3:70014355 GRCh38: Chr3:69965204	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199679980.	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 199672981.	NM_001354604.2(MITF):c.955+18A>G GRCh37: Chr3:70001055 GRCh38: Chr3:69951904	MITF		Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 199525482.	NM_001354604.2(MITF):c.738T>C (p.Asp246=) GRCh37: Chr3:69990458 GRCh38: Chr3:69941307	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 199508983.	NM_001354604.2(MITF):c.1180-17C>G GRCh37: Chr3:70013981 GRCh38: Chr3:69964830	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 199495184.	NM_001354604.2(MITF):c.1440A>T (p.Lys480Asn) GRCh37: Chr3:70014258 GRCh38: Chr3:69965107	MITF	K422N, K458N, K311N, K480N, K367N, K373N, K457N, K473N, K474N, K479N	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 199487685.	NM_001354604.2(MITF):c.763-16G>A GRCh37: Chr3:69998186 GRCh38: Chr3:69949035	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 199453186.	NM_001354604.2(MITF):c.583-3C>T GRCh37: Chr3:69988246 GRCh38: Chr3:69939095	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 198639887.	NM_001354604.2(MITF):c.450A>T (p.Lys150Asn) GRCh37: Chr3:69987068 GRCh38: Chr3:69937917	MITF	K134N, K98N, K149N, K43N, K133N, K150N	MITF-related condition, Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198141688.	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 198120889.	NM_001354604.2(MITF):c.1479C>T (p.Val493=) GRCh37: Chr3:70014297 GRCh38: Chr3:69965146	MITF		Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 197975990.	NM_001354604.2(MITF):c.1456A>G (p.Met486Val) GRCh37: Chr3:70014274 GRCh38: Chr3:69965123	MITF	M373V, M428V, M463V, M464V, M480V, M379V, M485V, M486V, M317V, M479V	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 197851291.	NM_001354604.2(MITF):c.762+13T>C GRCh37: Chr3:69990495 GRCh38: Chr3:69941344	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 197812392.	NM_001354604.2(MITF):c.666+12C>T GRCh37: Chr3:69988344 GRCh38: Chr3:69939193	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Benign (Aug 24, 2022)	criteria provided, single submitter
Select item 197770493.	NM_001354604.2(MITF):c.1558G>A (p.Glu520Lys) GRCh37: Chr3:70014376 GRCh38: Chr3:69965225	MITF	E497K, E498K, E351K, E407K, E413K, E462K, E513K, E514K, E519K, E520K	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 197594194.	NM_001354604.2(MITF):c.1433G>A (p.Gly478Glu) GRCh37: Chr3:70014251 GRCh38: Chr3:69965100	MITF	G365E, G455E, G420E, G478E, G472E, G309E, G371E, G456E, G471E, G477E	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8, not provided	Uncertain significance (Feb 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197526295.	NM_001354604.2(MITF):c.1290C>G (p.Asn430Lys) GRCh37: Chr3:70014108 GRCh38: Chr3:69964957	MITF	N261K, N430K, N323K, N407K, N408K, N423K, N372K, N424K, N317K, N429K	Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 197497596.	NM_001354604.2(MITF):c.1031+12C>T GRCh37: Chr3:70005693 GRCh38: Chr3:69956542	MITF		Tietz syndrome, Waardenburg syndrome type 2A, Melanoma, cutaneous malignant, susceptibility to, 8	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 197462597.	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 197399798.	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 197373299.	NM_001354604.2(MITF):c.1477G>C (p.Val493Leu) GRCh37: Chr3:70014295 GRCh38: Chr3:69965144	MITF	V493L, V487L, V380L, V435L, V471L, V486L, V324L, V386L, V470L, V492L	Tietz syndrome, Melanoma, cutaneous malignant, susceptibility to, 8, Waardenburg syndrome type 2A, not provided	Uncertain significance (Oct 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1973284100.	NM_001354604.2(MITF):c.738T>G (p.Asp246Glu) GRCh37: Chr3:69990458 GRCh38: Chr3:69941307	MITF	D229E, D139E, D194E, D230E, D245E, D246E, D83E	Melanoma, cutaneous malignant, susceptibility to, 8, Tietz syndrome, Waardenburg syndrome type 2A, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts

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