| NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000129682]|Melanoma [RCV001195106]|Melanoma, cutaneous malignant, susceptibility to, 8 [RCV000022661]|Tietz syndrome [RCV000627790]|Tietz syndrome [RCV002247378]|Tietz syndrome [RCV002490402]|Waardenburg syndrome type 2A [RCV001535706]|not provided [RCV000484916]|not specified [RCV000222278] |
Chr3:69964940 [GRCh38]
Chr3:70014091 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000248.4(MITF):c.33+1G>A |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV000015340] |
Chr3:69936756 [GRCh38]
Chr3:69985907 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.763-2A>C |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV000015341] |
Chr3:69949049 [GRCh38]
Chr3:69998200 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) |
microsatellite |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness [RCV000498643]|Tietz syndrome [RCV000015342]|Waardenburg syndrome [RCV000826199]|Waardenburg syndrome type 2A [RCV001290155]|not provided [RCV001785452] |
Chr3:69956461..69956463 [GRCh38]
Chr3:70005612..70005614 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV000015343] |
Chr3:69959310 [GRCh38]
Chr3:70008461 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1145del (p.Glu382fs) |
deletion |
Waardenburg syndrome type 2A [RCV000015344] |
Chr3:69959386 [GRCh38]
Chr3:70008537 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.951C>G (p.Asn317Lys) |
single nucleotide variant |
Tietz syndrome [RCV000015345] |
Chr3:69951882 [GRCh38]
Chr3:70001033 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) |
single nucleotide variant |
Ear malformation [RCV001813988]|Hearing impairment [RCV000414854]|Heterochromia iridis [RCV000415265]|Waardenburg syndrome type 2A [RCV000015346]|not provided [RCV001200166] |
Chr3:69956460 [GRCh38]
Chr3:70005611 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) |
single nucleotide variant |
MITF-related condition [RCV003974827]|Tietz syndrome [RCV002513060]|Waardenburg syndrome type 2A [RCV000015347]|not provided [RCV001541066]|not specified [RCV002281708] |
Chr3:69964880 [GRCh38]
Chr3:70014031 [GRCh37]
Chr3:3p13 |
pathogenic|uncertain significance |
| NM_001354604.2(MITF):c.925G>A (p.Glu309Lys) |
single nucleotide variant |
Tietz syndrome [RCV000656418] |
Chr3:69951856 [GRCh38]
Chr3:70001007 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.666+5T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257852]|Tietz syndrome [RCV003767426]|not provided [RCV003159139]|not specified [RCV000602988] |
Chr3:69939186 [GRCh38]
Chr3:69988337 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.3(MITF):c.711-1115C>A |
single nucleotide variant |
Lung cancer [RCV000093675] |
Chr3:69958158 [GRCh38]
Chr3:70007309 [GRCh37]
Chr3:3p13 |
uncertain significance |
| GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1 |
copy number loss |
See cases [RCV000051512] |
Chr3:64761248..78410098 [GRCh38]
Chr3:64746924..78459248 [GRCh37]
Chr3:64721964..78541938 [NCBI36]
Chr3:3p14.1-12.3 |
pathogenic |
| NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro) |
indel |
Waardenburg syndrome type 2A [RCV000659861] |
Chr3:69941299..69941300 [GRCh38]
Chr3:69990450..69990451 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) |
single nucleotide variant |
Tietz syndrome [RCV003767914]|Waardenburg syndrome type 2A [RCV000659862]|not provided [RCV002466557] |
Chr3:69951884 [GRCh38]
Chr3:70001035 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.989G>A (p.Arg330His) |
single nucleotide variant |
Tietz syndrome [RCV002530558]|Waardenburg syndrome type 2A [RCV000659863] |
Chr3:69956488 [GRCh38]
Chr3:70005639 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1031+4A>C |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV000659865] |
Chr3:69956534 [GRCh38]
Chr3:70005685 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.669G>A (p.Met223Ile) |
single nucleotide variant |
MITF-related condition [RCV003983159]|Tietz syndrome [RCV003767913]|Waardenburg syndrome type 2A [RCV000659860] |
Chr3:69941238 [GRCh38]
Chr3:69990389 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004026048]|Tietz syndrome [RCV002530560]|Waardenburg syndrome type 2A [RCV000659864]|not provided [RCV001270110] |
Chr3:69956496 [GRCh38]
Chr3:70005647 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1072G>A (p.Val358Met) |
single nucleotide variant |
MITF-related condition [RCV003411566]|Waardenburg syndrome type 2A [RCV000659866]|not specified [RCV001195616] |
Chr3:69959313 [GRCh38]
Chr3:70008464 [GRCh37]
Chr3:3p13 |
likely pathogenic|uncertain significance |
| NM_001184967.1(MITF):c.-52-56165G>A |
single nucleotide variant |
Lung cancer [RCV000093674] |
Chr3:69822969 [GRCh38]
Chr3:69872120 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.666+15G>C |
single nucleotide variant |
Tietz syndrome [RCV002531132]|not specified [RCV000603205] |
Chr3:69939196 [GRCh38]
Chr3:69988347 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1000dup (p.Leu334fs) |
duplication |
Waardenburg syndrome type 2A [RCV001004797] |
Chr3:69956498..69956499 [GRCh38]
Chr3:70005649..70005650 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1044dup (p.Asn349fs) |
duplication |
Waardenburg syndrome type 2A [RCV001293273] |
Chr3:69959283..69959284 [GRCh38]
Chr3:70008434..70008435 [GRCh37]
Chr3:3p13 |
uncertain significance |
| GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1 |
copy number loss |
See cases [RCV000133821] |
Chr3:67391006..73414001 [GRCh38]
Chr3:67441430..73463152 [GRCh37]
Chr3:67524120..73545842 [NCBI36]
Chr3:3p14.1-13 |
pathogenic |
| GRCh38/hg38 3p13(chr3:69914878-70489155)x1 |
copy number loss |
See cases [RCV000136101] |
Chr3:69914878..70489155 [GRCh38]
Chr3:69964029..70538306 [GRCh37]
Chr3:70046719..70620996 [NCBI36]
Chr3:3p13 |
pathogenic |
| GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3 |
copy number gain |
See cases [RCV000140215] |
Chr3:68328980..76764319 [GRCh38]
Chr3:68378130..76813470 [GRCh37]
Chr3:68460820..76896160 [NCBI36]
Chr3:3p14.1-12.3 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 |
copy number loss |
See cases [RCV000139626] |
Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1 |
pathogenic |
| GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3 |
copy number gain |
See cases [RCV000142264] |
Chr3:69428068..70977848 [GRCh38]
Chr3:69477219..71026999 [GRCh37]
Chr3:69559909..71109689 [NCBI36]
Chr3:3p14.1-13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*286G>A |
single nucleotide variant |
Tietz syndrome [RCV000264148]|Waardenburg syndrome type 2A [RCV000321646] |
Chr3:69965534 [GRCh38]
Chr3:70014685 [GRCh37]
Chr3:3p13 |
benign|uncertain significance |
| NM_001354604.2(MITF):c.*2580C>T |
single nucleotide variant |
Tietz syndrome [RCV000356931]|Waardenburg syndrome type 2A [RCV000262127]|not provided [RCV003437099] |
Chr3:69967828 [GRCh38]
Chr3:70016979 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.736G>A (p.Asp246Asn) |
single nucleotide variant |
Anophthalmia-microphthalmia syndrome [RCV000207381] |
Chr3:69941305 [GRCh38]
Chr3:69990456 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.329C>T (p.Thr110Met) |
single nucleotide variant |
MITF-related condition [RCV003390961]|not specified [RCV000215399] |
Chr3:69879358 [GRCh38]
Chr3:69928509 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del |
deletion |
Rare genetic deafness [RCV000219617] |
Chr3:69936619..69965326 [GRCh38]
Chr3:69985770..70014477 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.704C>G (p.Ser235Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000223662] |
Chr3:69941273 [GRCh38]
Chr3:69990424 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.104+24226G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258832]|MITF-related condition [RCV003919881]|not specified [RCV000217338] |
Chr3:69763927 [GRCh38]
Chr3:69813078 [GRCh37]
Chr3:3p13 |
benign|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.366C>T (p.His122=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257516]|MITF-related condition [RCV003891791]|Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003316182]|Tietz syndrome [RCV000332499]|Tietz syndrome [RCV001086789]|Waardenburg syndrome type 2A [RCV000382353]|not provided [RCV000586833]|not specified [RCV000217396] |
Chr3:69937833 [GRCh38]
Chr3:69986984 [GRCh37]
Chr3:3p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001354604.2(MITF):c.1566G>A (p.Thr522=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003316180]|Tietz syndrome [RCV000378135]|Tietz syndrome [RCV002054376]|Waardenburg syndrome type 2A [RCV000321130]|not provided [RCV000587748]|not specified [RCV000220011] |
Chr3:69965233 [GRCh38]
Chr3:70014384 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.330G>A (p.Thr110=) |
single nucleotide variant |
MITF-related condition [RCV003917873]|Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003316181]|not provided [RCV000839452]|not specified [RCV000213763] |
Chr3:69879359 [GRCh38]
Chr3:69928510 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.623A>G (p.Glu208Gly) |
single nucleotide variant |
MITF-related condition [RCV003897471]|Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003316192]|Tietz syndrome [RCV000906823]|not provided [RCV001778802]|not specified [RCV000220481] |
Chr3:69939138 [GRCh38]
Chr3:69988289 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1229C>T (p.Thr410Met) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004039370]|Tietz syndrome [RCV002495910]|Tietz syndrome [RCV002570780]|not provided [RCV001571201] |
Chr3:69964896 [GRCh38]
Chr3:70014047 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.105-12836C>T |
single nucleotide variant |
not specified [RCV000214184] |
Chr3:69866298 [GRCh38]
Chr3:69915449 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1182A>G (p.Glu394=) |
single nucleotide variant |
Tietz syndrome [RCV000394794]|Tietz syndrome [RCV002517480]|Waardenburg syndrome type 2A [RCV000299354]|not provided [RCV000762121]|not specified [RCV000215990] |
Chr3:69964849 [GRCh38]
Chr3:70014000 [GRCh37]
Chr3:3p13 |
benign|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.880+9C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257517]|Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003316183]|Tietz syndrome [RCV000405831]|Tietz syndrome [RCV001088700]|Waardenburg syndrome type 2A [RCV000340493]|not provided [RCV000588948]|not specified [RCV000221103] |
Chr3:69949177 [GRCh38]
Chr3:69998328 [GRCh37]
Chr3:3p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001354604.2(MITF):c.1043G>A (p.Trp348Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000216354] |
Chr3:69959284 [GRCh38]
Chr3:70008435 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) |
single nucleotide variant |
MITF-related condition [RCV003937806]|Tietz syndrome [RCV001145707]|Tietz syndrome [RCV002517453]|Waardenburg syndrome type 2A [RCV001145708]|not provided [RCV000913254]|not specified [RCV000216383] |
Chr3:69965048 [GRCh38]
Chr3:70014199 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) |
single nucleotide variant |
Rare genetic deafness [RCV000218716]|Waardenburg syndrome type 2A [RCV001290157] |
Chr3:69959370 [GRCh38]
Chr3:70008521 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.881-9C>G |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002256126]|Tietz syndrome [RCV002485390]|Tietz syndrome [RCV002519640]|not provided [RCV001596994]|not specified [RCV000214959] |
Chr3:69951803 [GRCh38]
Chr3:70000954 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.355-8A>G |
single nucleotide variant |
Tietz syndrome [RCV003765393]|not specified [RCV000219040] |
Chr3:69937814 [GRCh38]
Chr3:69986965 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_198159.2(MITF):c.(?_938)-102_*(78_?)del |
deletion |
Rare genetic deafness [RCV000223260] |
Chr3:69956353..69965326 [GRCh38]
Chr3:70005504..70014477 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.667-3C>T |
single nucleotide variant |
MITF-related condition [RCV003967591]|Tietz syndrome [RCV003105826]|not provided [RCV001582736]|not specified [RCV000223344] |
Chr3:69941233 [GRCh38]
Chr3:69990384 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1208del (p.Gly403fs) |
deletion |
Waardenburg syndrome type 2A [RCV000225077] |
Chr3:69964874 [GRCh38]
Chr3:70014025 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004021928]|Tietz syndrome [RCV000273610]|Tietz syndrome [RCV002520181]|Waardenburg syndrome type 2A [RCV000356640] |
Chr3:69964889 [GRCh38]
Chr3:70014040 [GRCh37]
Chr3:3p13 |
benign|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1569G>A (p.Glu523=) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003316496]|Tietz syndrome [RCV000286198]|Tietz syndrome [RCV002520184]|Waardenburg syndrome type 2A [RCV000343441]|not provided [RCV000589785]|not specified [RCV001580039] |
Chr3:69965236 [GRCh38]
Chr3:70014387 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*12T>C |
single nucleotide variant |
Tietz syndrome [RCV000391560]|Waardenburg syndrome type 2A [RCV000280336] |
Chr3:69965260 [GRCh38]
Chr3:70014411 [GRCh37]
Chr3:3p13 |
benign|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.644A>T (p.His215Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257652]|Tietz syndrome [RCV000405002]|Tietz syndrome [RCV002520179]|Waardenburg syndrome type 2A [RCV000283175]|not provided [RCV000977275] |
Chr3:69939159 [GRCh38]
Chr3:69988310 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*2068C>T |
single nucleotide variant |
Tietz syndrome [RCV000321613]|Waardenburg syndrome type 2A [RCV000282890] |
Chr3:69967316 [GRCh38]
Chr3:70016467 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*2868T>C |
single nucleotide variant |
Tietz syndrome [RCV000377619]|Waardenburg syndrome type 2A [RCV000283121] |
Chr3:69968116 [GRCh38]
Chr3:70017267 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.1179+5G>A |
single nucleotide variant |
Tietz syndrome [RCV002519876]|not specified [RCV000253920] |
Chr3:69959425 [GRCh38]
Chr3:70008576 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*1934G>T |
single nucleotide variant |
Tietz syndrome [RCV000269544]|Waardenburg syndrome type 2A [RCV000371196] |
Chr3:69967182 [GRCh38]
Chr3:70016333 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*228C>T |
single nucleotide variant |
Tietz syndrome [RCV000270800]|Waardenburg syndrome type 2A [RCV000362992] |
Chr3:69965476 [GRCh38]
Chr3:70014627 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*2505C>T |
single nucleotide variant |
Tietz syndrome [RCV000330192]|Waardenburg syndrome type 2A [RCV000275133] |
Chr3:69967753 [GRCh38]
Chr3:70016904 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*1933C>T |
single nucleotide variant |
Tietz syndrome [RCV000332996]|Waardenburg syndrome type 2A [RCV000275529] |
Chr3:69967181 [GRCh38]
Chr3:70016332 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-6T>C |
single nucleotide variant |
Tietz syndrome [RCV002569052]|not provided [RCV001571344] |
Chr3:69964841 [GRCh38]
Chr3:70013992 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255371]|MITF-related condition [RCV003922521]|Tietz syndrome [RCV000277062]|Tietz syndrome [RCV002520183]|Waardenburg syndrome type 2A [RCV000325041]|not provided [RCV000883708]|not specified [RCV000615223] |
Chr3:69964947 [GRCh38]
Chr3:70014098 [GRCh37]
Chr3:3p13 |
benign|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.956-7C>A |
single nucleotide variant |
not specified [RCV000250782] |
Chr3:69956448 [GRCh38]
Chr3:70005599 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.*575_*576dup |
duplication |
Tietz syndrome [RCV000266775]|Waardenburg syndrome [RCV000359160] |
Chr3:69965814..69965815 [GRCh38]
Chr3:70014965..70014966 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*379T>C |
single nucleotide variant |
Tietz syndrome [RCV000267705]|Waardenburg syndrome type 2A [RCV000378375] |
Chr3:69965627 [GRCh38]
Chr3:70014778 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*836G>T |
single nucleotide variant |
Tietz syndrome [RCV000375057]|Waardenburg syndrome type 2A [RCV000273535] |
Chr3:69966084 [GRCh38]
Chr3:70015235 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*576dup |
duplication |
Tietz syndrome [RCV000302051]|Waardenburg syndrome [RCV000404838] |
Chr3:69965814..69965815 [GRCh38]
Chr3:70014965..70014966 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2588G>A |
single nucleotide variant |
Tietz syndrome [RCV000317212]|Waardenburg syndrome type 2A [RCV000371909] |
Chr3:69967836 [GRCh38]
Chr3:70016987 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*23C>T |
single nucleotide variant |
Tietz syndrome [RCV000337208]|Waardenburg syndrome type 2A [RCV000403231] |
Chr3:69965271 [GRCh38]
Chr3:70014422 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1502A>T |
single nucleotide variant |
Tietz syndrome [RCV000342217]|Waardenburg syndrome type 2A [RCV000303703] |
Chr3:69966750 [GRCh38]
Chr3:70015901 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.505A>G (p.Met169Val) |
single nucleotide variant |
MITF-related condition [RCV003422332]|Tietz syndrome [RCV000288018]|Tietz syndrome [RCV002520178]|Waardenburg syndrome type 2A [RCV000347693]|not provided [RCV001568741] |
Chr3:69937972 [GRCh38]
Chr3:69987123 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*1248T>C |
single nucleotide variant |
Tietz syndrome [RCV000382031]|Waardenburg syndrome type 2A [RCV000289956] |
Chr3:69966496 [GRCh38]
Chr3:70015647 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.1031+15G>A |
single nucleotide variant |
Tietz syndrome [RCV000305388]|Tietz syndrome [RCV002520180]|Waardenburg syndrome type 2A [RCV000353241]|not specified [RCV002268038] |
Chr3:69956545 [GRCh38]
Chr3:70005696 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*2458G>A |
single nucleotide variant |
Tietz syndrome [RCV000306700]|Waardenburg syndrome type 2A [RCV000363762] |
Chr3:69967706 [GRCh38]
Chr3:70016857 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*556T>C |
single nucleotide variant |
Tietz syndrome [RCV000345273]|Waardenburg syndrome type 2A [RCV000306751] |
Chr3:69965804 [GRCh38]
Chr3:70014955 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2029A>T |
single nucleotide variant |
Tietz syndrome [RCV000383940]|Waardenburg syndrome type 2A [RCV000327035] |
Chr3:69967277 [GRCh38]
Chr3:70016428 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*235T>C |
single nucleotide variant |
Tietz syndrome [RCV000327471]|Waardenburg syndrome type 2A [RCV000365752] |
Chr3:69965483 [GRCh38]
Chr3:70014634 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*3033A>G |
single nucleotide variant |
Tietz syndrome [RCV000347226]|Waardenburg syndrome type 2A [RCV000407322] |
Chr3:69968281 [GRCh38]
Chr3:70017432 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*1150T>C |
single nucleotide variant |
Tietz syndrome [RCV000343800]|Waardenburg syndrome type 2A [RCV000295931] |
Chr3:69966398 [GRCh38]
Chr3:70015549 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.355-1135G>A |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003316495]|Tietz syndrome [RCV000385803]|Waardenburg syndrome type 2A [RCV000296086]|not specified [RCV000611828] |
Chr3:69936687 [GRCh38]
Chr3:69985838 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*1491A>G |
single nucleotide variant |
Tietz syndrome [RCV000391881]|Waardenburg syndrome type 2A [RCV000348025] |
Chr3:69966739 [GRCh38]
Chr3:70015890 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*2170A>G |
single nucleotide variant |
Tietz syndrome [RCV000405193]|Waardenburg syndrome type 2A [RCV000369509] |
Chr3:69967418 [GRCh38]
Chr3:70016569 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*48T>C |
single nucleotide variant |
Tietz syndrome [RCV000311958]|Waardenburg syndrome type 2A [RCV000368955]|not provided [RCV001594981] |
Chr3:69965296 [GRCh38]
Chr3:70014447 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*2160del |
deletion |
Tietz syndrome [RCV000312382]|Waardenburg syndrome [RCV000402732] |
Chr3:69967408 [GRCh38]
Chr3:70016559 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004021929]|Tietz syndrome [RCV000330771]|Tietz syndrome [RCV002487524]|Tietz syndrome [RCV002520182]|Waardenburg syndrome type 2A [RCV000369157]|not provided [RCV002461093] |
Chr3:69964926 [GRCh38]
Chr3:70014077 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1101G>A |
single nucleotide variant |
Tietz syndrome [RCV000330978]|Waardenburg syndrome type 2A [RCV000387890] |
Chr3:69966349 [GRCh38]
Chr3:70015500 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*1570C>T |
single nucleotide variant |
Tietz syndrome [RCV000404341]|Waardenburg syndrome type 2A [RCV000297906]|not provided [RCV002292536] |
Chr3:69966818 [GRCh38]
Chr3:70015969 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*447C>A |
single nucleotide variant |
Tietz syndrome [RCV000351048]|Waardenburg syndrome type 2A [RCV000405622] |
Chr3:69965695 [GRCh38]
Chr3:70014846 [GRCh37]
Chr3:3p13 |
benign|uncertain significance |
| NM_001354604.2(MITF):c.*2159dup |
duplication |
Tietz syndrome [RCV000337957]|Waardenburg syndrome [RCV000280525]|not provided [RCV003437098] |
Chr3:69967400..69967401 [GRCh38]
Chr3:70016551..70016552 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.*415AAGA[2] |
microsatellite |
Tietz syndrome [RCV000338179]|Waardenburg syndrome [RCV000280757] |
Chr3:69965662..69965665 [GRCh38]
Chr3:70014813..70014816 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*662T>C |
single nucleotide variant |
Tietz syndrome [RCV000318274]|Waardenburg syndrome type 2A [RCV000260775] |
Chr3:69965910 [GRCh38]
Chr3:70015061 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*574_*576dup |
duplication |
Tietz syndrome [RCV000353315]|Waardenburg syndrome [RCV000305474] |
Chr3:69965814..69965815 [GRCh38]
Chr3:70014965..70014966 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1869G>T |
single nucleotide variant |
Tietz syndrome [RCV000262150]|Waardenburg syndrome type 2A [RCV000355132] |
Chr3:69967117 [GRCh38]
Chr3:70016268 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.639C>T (p.Asn213=) |
single nucleotide variant |
Tietz syndrome [RCV002532493]|not provided [RCV000598184] |
Chr3:69939154 [GRCh38]
Chr3:69988305 [GRCh37]
Chr3:3p13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001354604.2(MITF):c.1538G>A (p.Arg513Gln) |
single nucleotide variant |
Tietz syndrome [RCV002528269]|not provided [RCV000522973] |
Chr3:69965205 [GRCh38]
Chr3:70014356 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-2A>G |
single nucleotide variant |
Waardenburg syndrome [RCV001375177]|not provided [RCV000488206] |
Chr3:69964845 [GRCh38]
Chr3:70013996 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.1320A>T (p.Ala440=) |
single nucleotide variant |
Tietz syndrome [RCV000383984]|Waardenburg syndrome type 2A [RCV000292004] |
Chr3:69964987 [GRCh38]
Chr3:70014138 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*115C>T |
single nucleotide variant |
Tietz syndrome [RCV000315416]|Waardenburg syndrome type 2A [RCV000405170] |
Chr3:69965363 [GRCh38]
Chr3:70014514 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*413_*416del |
deletion |
Tietz syndrome [RCV000372714]|Waardenburg syndrome [RCV000315785] |
Chr3:69965654..69965657 [GRCh38]
Chr3:70014805..70014808 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*421G>T |
single nucleotide variant |
Tietz syndrome [RCV000385574]|Waardenburg syndrome type 2A [RCV000293719] |
Chr3:69965669 [GRCh38]
Chr3:70014820 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2079A>C |
single nucleotide variant |
Tietz syndrome [RCV000334529]|Waardenburg syndrome type 2A [RCV000391633] |
Chr3:69967327 [GRCh38]
Chr3:70016478 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2077G>T |
single nucleotide variant |
Tietz syndrome [RCV000286264]|Waardenburg syndrome type 2A [RCV000378576] |
Chr3:69967325 [GRCh38]
Chr3:70016476 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2753T>C |
single nucleotide variant |
Tietz syndrome [RCV000286607]|Waardenburg syndrome type 2A [RCV000322875] |
Chr3:69968001 [GRCh38]
Chr3:70017152 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1893C>T |
single nucleotide variant |
Tietz syndrome [RCV000367863]|Waardenburg syndrome type 2A [RCV000301522] |
Chr3:69967141 [GRCh38]
Chr3:70016292 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.881-7T>A |
single nucleotide variant |
Tietz syndrome [RCV002060547]|not provided [RCV000767195]|not specified [RCV000578647] |
Chr3:69951805 [GRCh38]
Chr3:70000956 [GRCh37]
Chr3:3p13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001354604.2(MITF):c.394C>A (p.Gln132Lys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV002291676]|Tietz syndrome [RCV002530856]|not provided [RCV000585176]|not specified [RCV000825958] |
Chr3:69937861 [GRCh38]
Chr3:69987012 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV001029993]|not provided [RCV000599138] |
Chr3:69956521 [GRCh38]
Chr3:70005672 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.667-7C>T |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255469]|Tietz syndrome [RCV003767437]|not provided [RCV000914093]|not specified [RCV000602787] |
Chr3:69941229 [GRCh38]
Chr3:69990380 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys) |
single nucleotide variant |
Waardenburg syndrome [RCV000415280] |
Chr3:69949082 [GRCh38]
Chr3:69998233 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) |
single nucleotide variant |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness [RCV000416286]|Waardenburg syndrome type 2A [RCV000416300] |
Chr3:69951870 [GRCh38]
Chr3:70001021 [GRCh37]
Chr3:3p13 |
pathogenic|uncertain significance |
| NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) |
single nucleotide variant |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness [RCV000416308]|Waardenburg syndrome type 2A [RCV000416288] |
Chr3:69956469 [GRCh38]
Chr3:70005620 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.956-1G>A |
single nucleotide variant |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness [RCV000416298]|Tietz syndrome [RCV003766173]|Waardenburg syndrome type 2A [RCV000416310] |
Chr3:69956454 [GRCh38]
Chr3:70005605 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) |
single nucleotide variant |
Congenital sensorineural hearing impairment [RCV000721949]|Tietz syndrome [RCV003766148]|Waardenburg syndrome type 2A [RCV000626399]|not provided [RCV000413197] |
Chr3:69959325 [GRCh38]
Chr3:70008476 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.851A>C (p.Asn284Thr) |
single nucleotide variant |
not provided [RCV000523028] |
Chr3:69949139 [GRCh38]
Chr3:69998290 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.958G>C (p.Glu320Gln) |
single nucleotide variant |
Tietz syndrome [RCV003766333]|not provided [RCV000424648] |
Chr3:69956457 [GRCh38]
Chr3:70005608 [GRCh37]
Chr3:3p13 |
likely pathogenic|uncertain significance |
| NM_001354604.2(MITF):c.1230G>A (p.Thr410=) |
single nucleotide variant |
Tietz syndrome [RCV003766234]|Waardenburg syndrome type 2 [RCV003987532]|Waardenburg syndrome type 2A [RCV001290159]|not provided [RCV000442415] |
Chr3:69964897 [GRCh38]
Chr3:70014048 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.947A>G (p.His316Arg) |
single nucleotide variant |
not provided [RCV000498171] |
Chr3:69951878 [GRCh38]
Chr3:70001029 [GRCh37]
Chr3:3p13 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_001354604.2(MITF):c.60G>T (p.Glu20Asp) |
single nucleotide variant |
not specified [RCV000602256] |
Chr3:69739657 [GRCh38]
Chr3:69788808 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) |
single nucleotide variant |
Tietz syndrome [RCV003767250]|Waardenburg syndrome type 2A [RCV000626398]|not provided [RCV001848977] |
Chr3:69939164 [GRCh38]
Chr3:69988315 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.1179+4C>T |
single nucleotide variant |
MITF-related condition [RCV003965293]|Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003230270]|Tietz syndrome [RCV002531674]|not provided [RCV001591370]|not specified [RCV000615376] |
Chr3:69959424 [GRCh38]
Chr3:70008575 [GRCh37]
Chr3:3p13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001354604.2(MITF):c.105-12789C>T |
single nucleotide variant |
not specified [RCV000615858] |
Chr3:69866345 [GRCh38]
Chr3:69915496 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser) |
single nucleotide variant |
Tietz syndrome [RCV001148364]|Tietz syndrome [RCV003114651]|Waardenburg syndrome type 2A [RCV001148363]|not provided [RCV000523994] |
Chr3:69959395 [GRCh38]
Chr3:70008546 [GRCh37]
Chr3:3p13 |
likely pathogenic|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1040G>A (p.Arg347His) |
single nucleotide variant |
MITF-related condition [RCV003900365]|Tietz syndrome [RCV002529315]|not provided [RCV001591365]|not specified [RCV000602070] |
Chr3:69959281 [GRCh38]
Chr3:70008432 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.217C>T (p.Arg73Cys) |
single nucleotide variant |
not specified [RCV000613227] |
Chr3:69879246 [GRCh38]
Chr3:69928397 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1476C>T (p.Pro492=) |
single nucleotide variant |
Tietz syndrome [RCV003767744]|not specified [RCV000611529] |
Chr3:69965143 [GRCh38]
Chr3:70014294 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1050G>A (p.Lys350=) |
single nucleotide variant |
MITF-related condition [RCV003962737]|Tietz syndrome [RCV003767425]|not provided [RCV001559501]|not specified [RCV000609250] |
Chr3:69959291 [GRCh38]
Chr3:70008442 [GRCh37]
Chr3:3p13 |
likely benign |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_001354604.2(MITF):c.1202C>T (p.Ala401Val) |
single nucleotide variant |
not specified [RCV000604068] |
Chr3:69964869 [GRCh38]
Chr3:70014020 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.773_785dup (p.Asp263fs) |
duplication |
Rare genetic deafness [RCV000604220] |
Chr3:69949059..69949060 [GRCh38]
Chr3:69998210..69998211 [GRCh37]
Chr3:3p13 |
pathogenic |
| GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1 |
copy number loss |
not provided [RCV000682270] |
Chr3:66133719..75076440 [GRCh37]
Chr3:3p14.1-12.3 |
pathogenic |
| NM_001354604.2(MITF):c.355-1062G>C |
single nucleotide variant |
Tietz syndrome [RCV002534250]|Waardenburg syndrome type 2 [RCV000722130]|Waardenburg syndrome type 2A [RCV003155262] |
Chr3:69936760 [GRCh38]
Chr3:69985911 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.1031+1G>A |
single nucleotide variant |
Tietz syndrome [RCV003767887]|Waardenburg syndrome type 1 [RCV000770828]|Waardenburg syndrome type 2A [RCV000721950]|not provided [RCV001557795] |
Chr3:69956531 [GRCh38]
Chr3:70005682 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) |
single nucleotide variant |
Tietz syndrome [RCV000721954]|not provided [RCV001756113] |
Chr3:69959280 [GRCh38]
Chr3:70008431 [GRCh37]
Chr3:3p13 |
likely pathogenic|uncertain significance |
| NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) |
single nucleotide variant |
MITF-related condition [RCV003411560]|Waardenburg syndrome type 2A [RCV000721951] |
Chr3:69956496 [GRCh38]
Chr3:70005647 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p13(chr3:69850066-69902514)x1 |
copy number loss |
not provided [RCV000742494] |
Chr3:69850066..69902514 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69850066-69916637)x1 |
copy number loss |
not provided [RCV000742495] |
Chr3:69850066..69916637 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873726-69873971)x0 |
copy number loss |
not provided [RCV000742496] |
Chr3:69873726..69873971 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873726-69874018)x0 |
copy number loss |
not provided [RCV000742497] |
Chr3:69873726..69874018 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873726-69874108)x0 |
copy number loss |
not provided [RCV000742498] |
Chr3:69873726..69874108 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873726-69900137)x1 |
copy number loss |
not provided [RCV000742499] |
Chr3:69873726..69900137 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873763-69873971)x0 |
copy number loss |
not provided [RCV000742500] |
Chr3:69873763..69873971 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873763-69874018)x0 |
copy number loss |
not provided [RCV000742501] |
Chr3:69873763..69874018 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873763-69874023)x0 |
copy number loss |
not provided [RCV000742502] |
Chr3:69873763..69874023 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873763-69881523)x1 |
copy number loss |
not provided [RCV000742503] |
Chr3:69873763..69881523 [GRCh37]
Chr3:3p13 |
benign |
| GRCh37/hg19 3p13(chr3:69873763-69920548)x1 |
copy number loss |
not provided [RCV000742504] |
Chr3:69873763..69920548 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.415G>A (p.Val139Ile) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV001543129]|Tietz syndrome [RCV003771665]|not provided [RCV001773769] |
Chr3:69937882 [GRCh38]
Chr3:69987033 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.881-6G>A |
single nucleotide variant |
MITF-related condition [RCV003948627]|Tietz syndrome [RCV002573331]|not provided [RCV001585126] |
Chr3:69951806 [GRCh38]
Chr3:70000957 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.666+119dup |
duplication |
not provided [RCV001584000] |
Chr3:69939286..69939287 [GRCh38]
Chr3:69988437..69988438 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.931C>T (p.Gln311Ter) |
single nucleotide variant |
not provided [RCV000760892] |
Chr3:69951862 [GRCh38]
Chr3:70001013 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.989G>T (p.Arg330Leu) |
single nucleotide variant |
not provided [RCV000762120] |
Chr3:69956488 [GRCh38]
Chr3:70005639 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1443G>A (p.Leu481=) |
single nucleotide variant |
MITF-related condition [RCV003910903]|Tietz syndrome [RCV002568495]|not provided [RCV001577209] |
Chr3:69965110 [GRCh38]
Chr3:70014261 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.355-1127C>T |
single nucleotide variant |
not provided [RCV001565945] |
Chr3:69936695 [GRCh38]
Chr3:69985846 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1039C>T (p.Arg347Cys) |
single nucleotide variant |
not provided [RCV001552134] |
Chr3:69959280 [GRCh38]
Chr3:70008431 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1179+14G>A |
single nucleotide variant |
Tietz syndrome [RCV001148366]|Tietz syndrome [RCV003769710]|Waardenburg syndrome type 2A [RCV001148365] |
Chr3:69959434 [GRCh38]
Chr3:70008585 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1331_1343dup (p.Asp449fs) |
duplication |
not provided [RCV001092348] |
Chr3:69964995..69964996 [GRCh38]
Chr3:70014146..70014147 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.*2831A>G |
single nucleotide variant |
Tietz syndrome [RCV001146136]|Waardenburg syndrome type 2A [RCV001146137] |
Chr3:69968079 [GRCh38]
Chr3:70017230 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.761C>T (p.Thr254Met) |
single nucleotide variant |
Tietz syndrome [RCV002573329]|not provided [RCV001583990] |
Chr3:69941330 [GRCh38]
Chr3:69990481 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu) |
single nucleotide variant |
Nonsyndromic Deafness [RCV000984522]|Tietz syndrome [RCV002505495]|Tietz syndrome [RCV002549628]|not provided [RCV001356827] |
Chr3:69956530 [GRCh38]
Chr3:70005681 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1224A>T (p.Pro408=) |
single nucleotide variant |
not provided [RCV000926455] |
Chr3:69964891 [GRCh38]
Chr3:70014042 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.316C>T (p.Leu106Phe) |
single nucleotide variant |
MITF-related condition [RCV003413779]|not provided [RCV000992305] |
Chr3:69879345 [GRCh38]
Chr3:69928496 [GRCh37]
Chr3:3p13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001354604.2(MITF):c.990C>T (p.Arg330=) |
single nucleotide variant |
Tietz syndrome [RCV001147433]|Tietz syndrome [RCV002549792]|Waardenburg syndrome type 2A [RCV001147434]|not provided [RCV000992306] |
Chr3:69956489 [GRCh38]
Chr3:70005640 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.579del (p.Glu194fs) |
deletion |
Tietz syndrome [RCV000987285] |
Chr3:69938042 [GRCh38]
Chr3:69987193 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.987C>A (p.Asp329Glu) |
single nucleotide variant |
Tietz syndrome [RCV000807091] |
Chr3:69956486 [GRCh38]
Chr3:70005637 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.537C>T (p.Asn179=) |
single nucleotide variant |
Tietz syndrome [RCV002538208]|not provided [RCV002536040]|not specified [RCV000825186] |
Chr3:69938004 [GRCh38]
Chr3:69987155 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1108C>G (p.Arg370Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004029186]|not provided [RCV001766761]|not specified [RCV000825368] |
Chr3:69959349 [GRCh38]
Chr3:70008500 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.639C>G (p.Asn213Lys) |
single nucleotide variant |
Tietz syndrome [RCV001858387]|not provided [RCV001776044]|not specified [RCV000825372] |
Chr3:69939154 [GRCh38]
Chr3:69988305 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala) |
single nucleotide variant |
MITF-related condition [RCV003950710]|Tietz syndrome [RCV001148470]|Tietz syndrome [RCV002542108]|Waardenburg syndrome type 2A [RCV001148471]|not provided [RCV000909712] |
Chr3:69965240 [GRCh38]
Chr3:70014391 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.1350C>T (p.Leu450=) |
single nucleotide variant |
Tietz syndrome [RCV003768850] |
Chr3:69965017 [GRCh38]
Chr3:70014168 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1167G>T (p.Leu389Phe) |
single nucleotide variant |
not provided [RCV002284941] |
Chr3:69959408 [GRCh38]
Chr3:70008559 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.355-829A>G |
single nucleotide variant |
not provided [RCV000837407] |
Chr3:69936993 [GRCh38]
Chr3:69986144 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.582+507C>T |
single nucleotide variant |
not provided [RCV000839415] |
Chr3:69938556 [GRCh38]
Chr3:69987707 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.354+143G>A |
single nucleotide variant |
not provided [RCV000839453] |
Chr3:69879526 [GRCh38]
Chr3:69928677 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.582+280C>T |
single nucleotide variant |
not provided [RCV000839461] |
Chr3:69938329 [GRCh38]
Chr3:69987480 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.582+126C>T |
single nucleotide variant |
not provided [RCV000836361] |
Chr3:69938175 [GRCh38]
Chr3:69987326 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.762+232C>T |
single nucleotide variant |
not provided [RCV000836362] |
Chr3:69941563 [GRCh38]
Chr3:69990714 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.246G>A (p.Ala82=) |
single nucleotide variant |
not provided [RCV000838229] |
Chr3:69879275 [GRCh38]
Chr3:69928426 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.594G>C (p.Lys198Asn) |
single nucleotide variant |
not provided [RCV000998099] |
Chr3:69939109 [GRCh38]
Chr3:69988260 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe) |
single nucleotide variant |
MITF-related condition [RCV003411824]|Tietz syndrome [RCV002536069]|not provided [RCV001550282]|not specified [RCV000825959] |
Chr3:69965079 [GRCh38]
Chr3:70014230 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) |
single nucleotide variant |
Tietz syndrome [RCV002538209]|not provided [RCV001580031]|not specified [RCV000825187] |
Chr3:69959391 [GRCh38]
Chr3:70008542 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.355-1113C>T |
single nucleotide variant |
Tietz syndrome [RCV001149817]|Waardenburg syndrome type 2A [RCV001148264]|not provided [RCV000838663] |
Chr3:69936709 [GRCh38]
Chr3:69985860 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.590A>G (p.Tyr197Cys) |
single nucleotide variant |
not specified [RCV000825369] |
Chr3:69939105 [GRCh38]
Chr3:69988256 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.452A>C (p.His151Pro) |
single nucleotide variant |
not specified [RCV000825370] |
Chr3:69937919 [GRCh38]
Chr3:69987070 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.881-253A>G |
single nucleotide variant |
not provided [RCV000839411] |
Chr3:69951559 [GRCh38]
Chr3:70000710 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.582+491G>A |
single nucleotide variant |
not provided [RCV000839471] |
Chr3:69938540 [GRCh38]
Chr3:69987691 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1031+31T>C |
single nucleotide variant |
not provided [RCV000837311]|not specified [RCV002268334] |
Chr3:69956561 [GRCh38]
Chr3:70005712 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*2160A>G |
single nucleotide variant |
Tietz syndrome [RCV001148803]|Waardenburg syndrome type 2A [RCV001148804] |
Chr3:69967408 [GRCh38]
Chr3:70016559 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2294A>G |
single nucleotide variant |
Tietz syndrome [RCV001148808]|Waardenburg syndrome type 2A [RCV001148807] |
Chr3:69967542 [GRCh38]
Chr3:70016693 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2807G>A |
single nucleotide variant |
Tietz syndrome [RCV001146134]|Waardenburg syndrome type 2A [RCV001146135] |
Chr3:69968055 [GRCh38]
Chr3:70017206 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2924C>T |
single nucleotide variant |
Tietz syndrome [RCV001148944]|Waardenburg syndrome type 2A [RCV001148943] |
Chr3:69968172 [GRCh38]
Chr3:70017323 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*2952T>C |
single nucleotide variant |
Tietz syndrome [RCV001148945]|Waardenburg syndrome type 2A [RCV001148946] |
Chr3:69968200 [GRCh38]
Chr3:70017351 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1031+14C>T |
single nucleotide variant |
Tietz syndrome [RCV001147435]|Tietz syndrome [RCV002557157]|Waardenburg syndrome type 2A [RCV001147436]|not provided [RCV003238311] |
Chr3:69956544 [GRCh38]
Chr3:70005695 [GRCh37]
Chr3:3p13 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001354604.2(MITF):c.397C>T (p.Gln133Ter) |
single nucleotide variant |
not provided [RCV001092347] |
Chr3:69937864 [GRCh38]
Chr3:69987015 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.355-1219G>A |
single nucleotide variant |
Tietz syndrome [RCV001148262]|Waardenburg syndrome type 2A [RCV001148263] |
Chr3:69936603 [GRCh38]
Chr3:69985754 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*524T>G |
single nucleotide variant |
Tietz syndrome [RCV001148585]|Waardenburg syndrome type 2A [RCV001148584] |
Chr3:69965772 [GRCh38]
Chr3:70014923 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*581G>A |
single nucleotide variant |
Tietz syndrome [RCV001148586]|Waardenburg syndrome type 2A [RCV001148587] |
Chr3:69965829 [GRCh38]
Chr3:70014980 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-11T>C |
single nucleotide variant |
Tietz syndrome [RCV001149927]|Tietz syndrome [RCV002557226]|Waardenburg syndrome type 2A [RCV001149928] |
Chr3:69964836 [GRCh38]
Chr3:70013987 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*2892C>T |
single nucleotide variant |
Tietz syndrome [RCV001148940]|Waardenburg syndrome type 2A [RCV001148939] |
Chr3:69968140 [GRCh38]
Chr3:70017291 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1666T>G |
single nucleotide variant |
Tietz syndrome [RCV001150265]|Waardenburg syndrome type 2A [RCV001150264] |
Chr3:69966914 [GRCh38]
Chr3:70016065 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1770C>T |
single nucleotide variant |
Tietz syndrome [RCV001150266]|Waardenburg syndrome type 2A [RCV001150267] |
Chr3:69967018 [GRCh38]
Chr3:70016169 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*442A>G |
single nucleotide variant |
Tietz syndrome [RCV001145818]|Waardenburg syndrome type 2A [RCV001145817] |
Chr3:69965690 [GRCh38]
Chr3:70014841 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1179+94C>T |
single nucleotide variant |
not provided [RCV000836425] |
Chr3:69959514 [GRCh38]
Chr3:70008665 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1179+217G>T |
single nucleotide variant |
not provided [RCV000836426] |
Chr3:69959637 [GRCh38]
Chr3:70008788 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.104+23992G>T |
single nucleotide variant |
not provided [RCV000828766] |
Chr3:69763693 [GRCh38]
Chr3:69812844 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-194A>C |
single nucleotide variant |
not provided [RCV000837333] |
Chr3:69937628 [GRCh38]
Chr3:69986779 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*486G>A |
single nucleotide variant |
Tietz syndrome [RCV001148582]|Waardenburg syndrome type 2A [RCV001148583] |
Chr3:69965734 [GRCh38]
Chr3:70014885 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) |
single nucleotide variant |
MITF-related condition [RCV003963084]|Tietz syndrome [RCV001145711]|Tietz syndrome [RCV002557119]|Waardenburg syndrome type 2A [RCV001145712]|not provided [RCV003130165] |
Chr3:69965184 [GRCh38]
Chr3:70014335 [GRCh37]
Chr3:3p13 |
benign|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*1120C>A |
single nucleotide variant |
Tietz syndrome [RCV001145921]|Waardenburg syndrome type 2A [RCV001145920] |
Chr3:69966368 [GRCh38]
Chr3:70015519 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1531AGC[1] (p.Ser512del) |
microsatellite |
not provided [RCV000998101] |
Chr3:69965198..69965200 [GRCh38]
Chr3:70014349..70014351 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2881C>T |
single nucleotide variant |
Tietz syndrome [RCV001146139]|Waardenburg syndrome type 2A [RCV001146138] |
Chr3:69968129 [GRCh38]
Chr3:70017280 [GRCh37]
Chr3:3p13 |
uncertain significance |
| GRCh37/hg19 3p13(chr3:69874997-69901170)x1 |
copy number loss |
not provided [RCV001005442] |
Chr3:69874997..69901170 [GRCh37]
Chr3:3p13 |
uncertain significance |
| GRCh37/hg19 3p13(chr3:69821345-69874928)x1 |
copy number loss |
not provided [RCV000848988] |
Chr3:69821345..69874928 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.654G>A (p.Ala218=) |
single nucleotide variant |
Tietz syndrome [RCV003120632]|not provided [RCV001571286] |
Chr3:69939169 [GRCh38]
Chr3:69988320 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.104+24188C>G |
single nucleotide variant |
Tietz syndrome [RCV001199150] |
Chr3:69763889 [GRCh38]
Chr3:69813040 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1157G>A (p.Arg386Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259067]|Tietz syndrome [RCV002549995]|not provided [RCV002284452] |
Chr3:69959398 [GRCh38]
Chr3:70008549 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1056C>T (p.Thr352=) |
single nucleotide variant |
Tietz syndrome [RCV001148360]|Waardenburg syndrome type 2A [RCV001148359] |
Chr3:69959297 [GRCh38]
Chr3:70008448 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.*2140T>C |
single nucleotide variant |
Tietz syndrome [RCV001146018]|Waardenburg syndrome type 2A [RCV001146019] |
Chr3:69967388 [GRCh38]
Chr3:70016539 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1516G>A (p.Gly506Arg) |
single nucleotide variant |
Tietz syndrome [RCV002568491]|not provided [RCV001576748] |
Chr3:69965183 [GRCh38]
Chr3:70014334 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.632G>A (p.Gly211Asp) |
single nucleotide variant |
Tietz syndrome [RCV003771734]|not provided [RCV001569413] |
Chr3:69939147 [GRCh38]
Chr3:69988298 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1392G>A (p.Gly464=) |
single nucleotide variant |
not provided [RCV001569597] |
Chr3:69965059 [GRCh38]
Chr3:70014210 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1384G>A (p.Gly462Arg) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV002291762]|Tietz syndrome [RCV002568965]|not provided [RCV001546273] |
Chr3:69965051 [GRCh38]
Chr3:70014202 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.513G>A (p.Pro171=) |
single nucleotide variant |
Tietz syndrome [RCV002568345]|not provided [RCV001553188]|not specified [RCV002268516] |
Chr3:69937980 [GRCh38]
Chr3:69987131 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1507G>A (p.Val503Met) |
single nucleotide variant |
Tietz syndrome [RCV003771715]|not provided [RCV001560236] |
Chr3:69965174 [GRCh38]
Chr3:70014325 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.956-3A>T |
single nucleotide variant |
not provided [RCV001560312] |
Chr3:69956452 [GRCh38]
Chr3:70005603 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1146G>A (p.Glu382=) |
single nucleotide variant |
MITF-related condition [RCV003900799]|Tietz syndrome [RCV002570727]|not provided [RCV001560610] |
Chr3:69959387 [GRCh38]
Chr3:70008538 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.104+24051C>T |
single nucleotide variant |
not provided [RCV001713146] |
Chr3:69763752 [GRCh38]
Chr3:69812903 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.726G>C (p.Leu242Phe) |
single nucleotide variant |
Tietz syndrome [RCV002501887]|Tietz syndrome [RCV002570684]|not provided [RCV001550204] |
Chr3:69941295 [GRCh38]
Chr3:69990446 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.528C>T (p.Ser176=) |
single nucleotide variant |
Tietz syndrome [RCV002573299]|not provided [RCV001591485] |
Chr3:69937995 [GRCh38]
Chr3:69987146 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1071C>T (p.Ser357=) |
single nucleotide variant |
Tietz syndrome [RCV003771684]|not provided [RCV001550511] |
Chr3:69959312 [GRCh38]
Chr3:70008463 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.495C>T (p.Gly165=) |
single nucleotide variant |
Tietz syndrome [RCV002569015]|not provided [RCV001561457] |
Chr3:69937962 [GRCh38]
Chr3:69987113 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.529G>A (p.Ala177Thr) |
single nucleotide variant |
Tietz syndrome [RCV002569016]|not provided [RCV001561622] |
Chr3:69937996 [GRCh38]
Chr3:69987147 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NC_000003.12:g.69739170A>G |
single nucleotide variant |
not provided [RCV001716023] |
Chr3:69739170 [GRCh38]
Chr3:69788321 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.1031+199G>A |
single nucleotide variant |
not provided [RCV001556861] |
Chr3:69956729 [GRCh38]
Chr3:70005880 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-857dup |
duplication |
not provided [RCV001680183] |
Chr3:69936947..69936948 [GRCh38]
Chr3:69986098..69986099 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.881-275G>C |
single nucleotide variant |
not provided [RCV001581494] |
Chr3:69951537 [GRCh38]
Chr3:70000688 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.930G>A (p.Arg310=) |
single nucleotide variant |
Tietz syndrome [RCV003771737]|not provided [RCV001570342] |
Chr3:69951861 [GRCh38]
Chr3:70001012 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.956-209G>A |
single nucleotide variant |
not provided [RCV001587164] |
Chr3:69956246 [GRCh38]
Chr3:70005397 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1180-254C>T |
single nucleotide variant |
not provided [RCV001613886] |
Chr3:69964593 [GRCh38]
Chr3:70013744 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.355-6G>A |
single nucleotide variant |
not provided [RCV000910582] |
Chr3:69937816 [GRCh38]
Chr3:69986967 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1032-4G>A |
single nucleotide variant |
MITF-related condition [RCV003898145]|Tietz syndrome [RCV001147438]|Tietz syndrome [RCV002557158]|Waardenburg syndrome type 2A [RCV001147437]|not provided [RCV001593292] |
Chr3:69959269 [GRCh38]
Chr3:70008420 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.882G>A (p.Ala294=) |
single nucleotide variant |
Tietz syndrome [RCV001145487]|Tietz syndrome [RCV002540822]|Waardenburg syndrome type 2A [RCV001145486]|not provided [RCV000911174] |
Chr3:69951813 [GRCh38]
Chr3:70000964 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.104+244C>A |
single nucleotide variant |
not provided [RCV001561706] |
Chr3:69739945 [GRCh38]
Chr3:69789096 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.558G>A (p.Thr186=) |
single nucleotide variant |
Tietz syndrome [RCV003771690]|not provided [RCV001551831] |
Chr3:69938025 [GRCh38]
Chr3:69987176 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.104+68C>G |
single nucleotide variant |
not provided [RCV001557978] |
Chr3:69739769 [GRCh38]
Chr3:69788920 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1180-188G>A |
single nucleotide variant |
not provided [RCV001596010] |
Chr3:69964659 [GRCh38]
Chr3:70013810 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.1515C>T (p.Pro505=) |
single nucleotide variant |
Tietz syndrome [RCV003771733]|not provided [RCV001568941] |
Chr3:69965182 [GRCh38]
Chr3:70014333 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.956T>G (p.Ile319Ser) |
single nucleotide variant |
not provided [RCV003327845] |
Chr3:69956455 [GRCh38]
Chr3:70005606 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.884G>A (p.Cys295Tyr) |
single nucleotide variant |
MITF-related condition [RCV003403842]|not provided [RCV002467300] |
Chr3:69951815 [GRCh38]
Chr3:70000966 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1388C>A (p.Thr463Asn) |
single nucleotide variant |
Tietz syndrome [RCV002570730]|not provided [RCV001561492] |
Chr3:69965055 [GRCh38]
Chr3:70014206 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.531A>G (p.Ala177=) |
single nucleotide variant |
Tietz syndrome [RCV001149818]|Tietz syndrome [RCV003769716]|Waardenburg syndrome type 2A [RCV001149819] |
Chr3:69937998 [GRCh38]
Chr3:69987149 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*1941A>G |
single nucleotide variant |
Tietz syndrome [RCV001144135]|Waardenburg syndrome type 2A [RCV001144136] |
Chr3:69967189 [GRCh38]
Chr3:70016340 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.*75G>T |
single nucleotide variant |
Tietz syndrome [RCV001150050]|Waardenburg syndrome type 2A [RCV001150049] |
Chr3:69965323 [GRCh38]
Chr3:70014474 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*802A>T |
single nucleotide variant |
Tietz syndrome [RCV001150153]|Waardenburg syndrome type 2A [RCV001150154] |
Chr3:69966050 [GRCh38]
Chr3:70015201 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.621C>T (p.Ser207=) |
single nucleotide variant |
Tietz syndrome [RCV001145483]|Waardenburg syndrome type 2A [RCV001149820] |
Chr3:69939136 [GRCh38]
Chr3:69988287 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1159C>T (p.His387Tyr) |
single nucleotide variant |
MITF-related condition [RCV003405734]|Tietz syndrome [RCV002488431]|Tietz syndrome [RCV002579474]|not provided [RCV001588171] |
Chr3:69959400 [GRCh38]
Chr3:70008551 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.667-109A>G |
single nucleotide variant |
not provided [RCV001644497] |
Chr3:69941127 [GRCh38]
Chr3:69990278 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.709dup (p.Tyr237fs) |
duplication |
Tietz syndrome [RCV001072064] |
Chr3:69941276..69941277 [GRCh38]
Chr3:69990427..69990428 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.622G>A (p.Glu208Lys) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV002291763]|Tietz syndrome [RCV002501955]|Tietz syndrome [RCV002592488]|not provided [RCV001589923] |
Chr3:69939137 [GRCh38]
Chr3:69988288 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1064A>G (p.Lys355Arg) |
single nucleotide variant |
Tietz syndrome [RCV001148362]|Waardenburg syndrome type 2A [RCV001148361] |
Chr3:69959305 [GRCh38]
Chr3:70008456 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.*2275G>A |
single nucleotide variant |
Tietz syndrome [RCV001148806]|Waardenburg syndrome type 2A [RCV001148805] |
Chr3:69967523 [GRCh38]
Chr3:70016674 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2918C>G |
single nucleotide variant |
Tietz syndrome [RCV001148941]|Waardenburg syndrome type 2A [RCV001148942] |
Chr3:69968166 [GRCh38]
Chr3:70017317 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.114C>T (p.Ala38=) |
single nucleotide variant |
not specified [RCV001195337] |
Chr3:69879143 [GRCh38]
Chr3:69928294 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1150G>T (p.Ala384Ser) |
single nucleotide variant |
Tietz syndrome [RCV001196019]|Tietz syndrome [RCV002560214]|not provided [RCV003442757] |
Chr3:69959391 [GRCh38]
Chr3:70008542 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*824T>A |
single nucleotide variant |
Tietz syndrome [RCV001150157]|Waardenburg syndrome type 2A [RCV001150158] |
Chr3:69966072 [GRCh38]
Chr3:70015223 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*2552A>G |
single nucleotide variant |
Tietz syndrome [RCV001150332]|Waardenburg syndrome type 2A [RCV001150333] |
Chr3:69967800 [GRCh38]
Chr3:70016951 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*810T>A |
single nucleotide variant |
Tietz syndrome [RCV001150156]|Waardenburg syndrome type 2A [RCV001150155] |
Chr3:69966058 [GRCh38]
Chr3:70015209 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.956-2A>G |
single nucleotide variant |
Tietz syndrome [RCV001053671] |
Chr3:69956453 [GRCh38]
Chr3:70005604 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.861C>G (p.Asn287Lys) |
single nucleotide variant |
Tietz syndrome [RCV001145484]|Waardenburg syndrome type 2A [RCV001145485] |
Chr3:69949149 [GRCh38]
Chr3:69998300 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys) |
single nucleotide variant |
Tietz syndrome [RCV001145710]|Tietz syndrome [RCV002559407]|Waardenburg syndrome type 2A [RCV001145709]|not provided [RCV001574270] |
Chr3:69965063 [GRCh38]
Chr3:70014214 [GRCh37]
Chr3:3p13 |
benign|likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*1270G>A |
single nucleotide variant |
Tietz syndrome [RCV001145922]|Waardenburg syndrome type 2A [RCV001145923] |
Chr3:69966518 [GRCh38]
Chr3:70015669 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*2673T>G |
single nucleotide variant |
Tietz syndrome [RCV001144248]|Waardenburg syndrome type 2A [RCV001144249] |
Chr3:69967921 [GRCh38]
Chr3:70017072 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.1179+15T>C |
single nucleotide variant |
Tietz syndrome [RCV001149926]|Tietz syndrome [RCV003769717]|Waardenburg syndrome type 2A [RCV001149925] |
Chr3:69959435 [GRCh38]
Chr3:70008586 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.*24G>A |
single nucleotide variant |
Tietz syndrome [RCV001150048]|Waardenburg syndrome type 2A [RCV001150047] |
Chr3:69965272 [GRCh38]
Chr3:70014423 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.*3060C>T |
single nucleotide variant |
Tietz syndrome [RCV001150463]|Waardenburg syndrome type 2A [RCV001150462] |
Chr3:69968308 [GRCh38]
Chr3:70017459 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*309T>C |
single nucleotide variant |
Tietz syndrome [RCV001143921]|Waardenburg syndrome type 2A [RCV001143922] |
Chr3:69965557 [GRCh38]
Chr3:70014708 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1380A>G |
single nucleotide variant |
Tietz syndrome [RCV001148707]|Waardenburg syndrome type 2A [RCV001148708] |
Chr3:69966628 [GRCh38]
Chr3:70015779 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*857C>G |
single nucleotide variant |
Tietz syndrome [RCV001144013]|Waardenburg syndrome type 2A [RCV001144014] |
Chr3:69966105 [GRCh38]
Chr3:70015256 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*857C>T |
single nucleotide variant |
Tietz syndrome [RCV001144016]|Waardenburg syndrome type 2A [RCV001144015] |
Chr3:69966105 [GRCh38]
Chr3:70015256 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2632C>T |
single nucleotide variant |
Tietz syndrome [RCV001144246]|Waardenburg syndrome type 2A [RCV001144247] |
Chr3:69967880 [GRCh38]
Chr3:70017031 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.808C>T (p.Leu270=) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV001253716] |
Chr3:69949096 [GRCh38]
Chr3:69998247 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.950A>G (p.Asn317Ser) |
single nucleotide variant |
Intellectual disability [RCV001255344]|Tietz syndrome [RCV002568750]|Waardenburg syndrome type 2A [RCV001262546] |
Chr3:69951881 [GRCh38]
Chr3:70001032 [GRCh37]
Chr3:3p13 |
likely pathogenic|uncertain significance |
| NM_001354604.2(MITF):c.354+297A>G |
single nucleotide variant |
not provided [RCV001641802] |
Chr3:69879680 [GRCh38]
Chr3:69928831 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) |
single nucleotide variant |
Tietz syndrome [RCV002543007]|Waardenburg syndrome type 2A [RCV001290156]|not provided [RCV001729834] |
Chr3:69959337 [GRCh38]
Chr3:70008488 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV001544533]|Tietz syndrome [RCV003770470]|Waardenburg syndrome type 2A [RCV001290158]|not provided [RCV001543505] |
Chr3:69964865 [GRCh38]
Chr3:70014016 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.915dup (p.Leu306fs) |
duplication |
not provided [RCV001312032] |
Chr3:69951845..69951846 [GRCh38]
Chr3:70000996..70000997 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_000248.4(MITF):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001374510] |
Chr3:69936723 [GRCh38]
Chr3:69985874 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV001290151] |
Chr3:69951859 [GRCh38]
Chr3:70001010 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.967del (p.Arg323fs) |
deletion |
Waardenburg syndrome type 2A [RCV001290152] |
Chr3:69956465 [GRCh38]
Chr3:70005616 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.969_973del (p.Arg323fs) |
deletion |
Waardenburg syndrome type 2A [RCV001290153] |
Chr3:69956468..69956472 [GRCh38]
Chr3:70005619..70005623 [GRCh37]
Chr3:3p13 |
pathogenic |
| GRCh37/hg19 3p13(chr3:69985815-69985964) |
copy number loss |
Waardenburg syndrome type 2A [RCV001290162] |
Chr3:69985815..69985964 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.674A>G (p.Asp225Gly) |
single nucleotide variant |
Tietz syndrome [RCV003771039]|not provided [RCV001355463] |
Chr3:69941243 [GRCh38]
Chr3:69990394 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1377del (p.Asn459fs) |
deletion |
Waardenburg syndrome type 2A [RCV001290161] |
Chr3:69965044 [GRCh38]
Chr3:70014195 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV001353101]|not provided [RCV002305603] |
Chr3:69959293 [GRCh38]
Chr3:70008444 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.582+307T>G |
single nucleotide variant |
not provided [RCV001356083] |
Chr3:69938356 [GRCh38]
Chr3:69987507 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.881-227dup |
duplication |
not provided [RCV001538432] |
Chr3:69951576..69951577 [GRCh38]
Chr3:70000727..70000728 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV001290160] |
Chr3:69964940 [GRCh38]
Chr3:70014091 [GRCh37]
Chr3:3p13 |
pathogenic |
| GRCh37/hg19 3p14.1-13(chr3:69739463-69968331) |
copy number loss |
Waardenburg syndrome type 2A [RCV001290163] |
Chr3:69739463..69968331 [GRCh37]
Chr3:3p14.1-13 |
pathogenic |
| NM_001354604.2(MITF):c.1093C>T (p.Gln365Ter) |
single nucleotide variant |
not provided [RCV001291591] |
Chr3:69959334 [GRCh38]
Chr3:70008485 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1291dup (p.Cys431fs) |
duplication |
Waardenburg syndrome type 2A [RCV001353102] |
Chr3:69964957..69964958 [GRCh38]
Chr3:70014108..70014109 [GRCh37]
Chr3:3p13 |
pathogenic |
| Single allele |
deletion |
See cases [RCV001374461] |
Chr3:68965654..72679568 [GRCh37]
Chr3:3p14.1-13 |
pathogenic |
| NM_001354604.2(MITF):c.880+261T>A |
single nucleotide variant |
not provided [RCV001709397] |
Chr3:69949429 [GRCh38]
Chr3:69998580 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.354+327T>C |
single nucleotide variant |
not provided [RCV001649858] |
Chr3:69879710 [GRCh38]
Chr3:69928861 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.956-265T>A |
single nucleotide variant |
not provided [RCV001590779] |
Chr3:69956190 [GRCh38]
Chr3:70005341 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.104+24216T>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259142]|not provided [RCV001727934]|not specified [RCV001699648] |
Chr3:69763917 [GRCh38]
Chr3:69813068 [GRCh37]
Chr3:3p13 |
benign|likely benign |
| NM_001354604.2(MITF):c.1179+6C>T |
single nucleotide variant |
MITF-related condition [RCV003948701]|Tietz syndrome [RCV003771886]|not provided [RCV001732431] |
Chr3:69959426 [GRCh38]
Chr3:70008577 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV001729950] |
Chr3:69959311 [GRCh38]
Chr3:70008462 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| Single allele |
deletion |
Waardenburg syndrome type 2A [RCV001729955] |
Chr3:69998228..70001142 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.644dup (p.His215fs) |
duplication |
Waardenburg syndrome type 2A [RCV001729952] |
Chr3:69939158..69939159 [GRCh38]
Chr3:69988309..69988310 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1462G>A (p.Asp488Asn) |
single nucleotide variant |
not provided [RCV001754768] |
Chr3:69965129 [GRCh38]
Chr3:70014280 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.862A>C (p.Ile288Leu) |
single nucleotide variant |
not provided [RCV002244424] |
Chr3:69949150 [GRCh38]
Chr3:69998301 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.666+1G>A |
single nucleotide variant |
Tietz syndrome [RCV003800513] |
Chr3:69939182 [GRCh38]
Chr3:69988333 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.407G>A (p.Arg136Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002257130]|Tietz syndrome [RCV003774767] |
Chr3:69937874 [GRCh38]
Chr3:69987025 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.640A>T (p.Thr214Ser) |
single nucleotide variant |
Tietz syndrome [RCV003772007]|not provided [RCV001758774] |
Chr3:69939155 [GRCh38]
Chr3:69988306 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.451C>T (p.His151Tyr) |
single nucleotide variant |
not provided [RCV001769364] |
Chr3:69937918 [GRCh38]
Chr3:69987069 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.818C>A (p.Pro273Gln) |
single nucleotide variant |
not provided [RCV001769440] |
Chr3:69949106 [GRCh38]
Chr3:69998257 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1486A>G (p.Thr496Ala) |
single nucleotide variant |
not provided [RCV003237600] |
Chr3:69965153 [GRCh38]
Chr3:70014304 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter) |
single nucleotide variant |
Tietz syndrome [RCV002544262] |
Chr3:69959302 [GRCh38]
Chr3:70008453 [GRCh37]
Chr3:3p13 |
pathogenic|likely pathogenic |
| NM_001354604.2(MITF):c.1477G>A (p.Val493Ile) |
single nucleotide variant |
Tietz syndrome [RCV003771951]|not provided [RCV001767258] |
Chr3:69965144 [GRCh38]
Chr3:70014295 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.881C>T (p.Ala294Val) |
single nucleotide variant |
Tietz syndrome [RCV002540535]|Waardenburg syndrome type 2A [RCV003989706]|not provided [RCV001771343] |
Chr3:69951812 [GRCh38]
Chr3:70000963 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.471C>T (p.Ser157=) |
single nucleotide variant |
Tietz syndrome [RCV003771890]|not provided [RCV001732705] |
Chr3:69937938 [GRCh38]
Chr3:69987089 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.1111G>A (p.Ala371Thr) |
single nucleotide variant |
Tietz syndrome [RCV002540498]|not provided [RCV001763786] |
Chr3:69959352 [GRCh38]
Chr3:70008503 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.508C>A (p.Pro170Thr) |
single nucleotide variant |
Tietz syndrome [RCV002540566]|not provided [RCV001773182] |
Chr3:69937975 [GRCh38]
Chr3:69987126 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.384G>A (p.Lys128=) |
single nucleotide variant |
not provided [RCV001773257] |
Chr3:69937851 [GRCh38]
Chr3:69987002 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.823C>A (p.Leu275Ile) |
single nucleotide variant |
Oculocutaneous albinism type 4 [RCV003339730]|Tietz syndrome [RCV002540238]|not provided [RCV001765217] |
Chr3:69949111 [GRCh38]
Chr3:69998262 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1417G>A (p.Val473Ile) |
single nucleotide variant |
not provided [RCV001764017] |
Chr3:69965084 [GRCh38]
Chr3:70014235 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1391G>T (p.Gly464Val) |
single nucleotide variant |
not provided [RCV001768449] |
Chr3:69965058 [GRCh38]
Chr3:70014209 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.752T>A (p.Met251Lys) |
single nucleotide variant |
MITF-related condition [RCV003984096]|not provided [RCV001754616] |
Chr3:69941321 [GRCh38]
Chr3:69990472 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1244C>T (p.Pro415Leu) |
single nucleotide variant |
not provided [RCV001786079] |
Chr3:69964911 [GRCh38]
Chr3:70014062 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1198C>G (p.Arg400Gly) |
single nucleotide variant |
Tietz syndrome [RCV003772029]|not provided [RCV001769083] |
Chr3:69964865 [GRCh38]
Chr3:70014016 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.881-9C>T |
single nucleotide variant |
Tietz syndrome [RCV002544368]|not provided [RCV001799931] |
Chr3:69951803 [GRCh38]
Chr3:70000954 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.770T>A (p.Val257Asp) |
single nucleotide variant |
Tietz syndrome [RCV003772030]|not provided [RCV001769105] |
Chr3:69949058 [GRCh38]
Chr3:69998209 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1216C>T (p.Leu406Phe) |
single nucleotide variant |
Tietz syndrome [RCV002540486]|not provided [RCV001769137] |
Chr3:69964883 [GRCh38]
Chr3:70014034 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1474C>T (p.Pro492Ser) |
single nucleotide variant |
Tietz syndrome [RCV002540512]|not provided [RCV001769412] |
Chr3:69965141 [GRCh38]
Chr3:70014292 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.830T>G (p.Ile277Ser) |
single nucleotide variant |
not provided [RCV001752787] |
Chr3:69949118 [GRCh38]
Chr3:69998269 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1085G>A (p.Arg362Gln) |
single nucleotide variant |
Tietz syndrome [RCV003120674]|not provided [RCV001765719] |
Chr3:69959326 [GRCh38]
Chr3:70008477 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.737A>G (p.Asp246Gly) |
single nucleotide variant |
not provided [RCV001769089] |
Chr3:69941306 [GRCh38]
Chr3:69990457 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1487C>T (p.Thr496Ile) |
single nucleotide variant |
Tietz syndrome [RCV002544130]|not provided [RCV001769138] |
Chr3:69965154 [GRCh38]
Chr3:70014305 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.583-3C>A |
single nucleotide variant |
not provided [RCV001770634] |
Chr3:69939095 [GRCh38]
Chr3:69988246 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1433G>C (p.Gly478Ala) |
single nucleotide variant |
Tietz syndrome [RCV003772047]|not provided [RCV001765919] |
Chr3:69965100 [GRCh38]
Chr3:70014251 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1345G>A (p.Asp449Asn) |
single nucleotide variant |
Tietz syndrome [RCV002540461]|not provided [RCV001761447] |
Chr3:69965012 [GRCh38]
Chr3:70014163 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1199G>A (p.Arg400Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004040846]|Tietz syndrome [RCV002541276]|not provided [RCV001794782] |
Chr3:69964866 [GRCh38]
Chr3:70014017 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.619A>G (p.Ser207Gly) |
single nucleotide variant |
not provided [RCV001794814] |
Chr3:69939134 [GRCh38]
Chr3:69988285 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1401C>T (p.Ala467=) |
single nucleotide variant |
Tietz syndrome [RCV002538714]|not provided [RCV001733290] |
Chr3:69965068 [GRCh38]
Chr3:70014219 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.979A>C (p.Ile327Leu) |
single nucleotide variant |
Hearing impairment [RCV001801263] |
Chr3:69956478 [GRCh38]
Chr3:70005629 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.484A>C (p.Asn162His) |
single nucleotide variant |
Tietz syndrome [RCV003772009]|not provided [RCV001758839] |
Chr3:69937951 [GRCh38]
Chr3:69987102 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1061T>C (p.Leu354Ser) |
single nucleotide variant |
not provided [RCV001815925] |
Chr3:69959302 [GRCh38]
Chr3:70008453 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.583-9T>C |
single nucleotide variant |
MITF-related condition [RCV003941164]|Tietz syndrome [RCV003772331]|not provided [RCV002274218]|not specified [RCV001822563] |
Chr3:69939089 [GRCh38]
Chr3:69988240 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.899_900del (p.Glu300fs) |
microsatellite |
Waardenburg syndrome type 2A [RCV001808122] |
Chr3:69951828..69951829 [GRCh38]
Chr3:70000979..70000980 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.1494A>C (p.Pro498=) |
single nucleotide variant |
MITF-related condition [RCV003976227]|Tietz syndrome [RCV002542671]|not provided [RCV003434326]|not specified [RCV001822650] |
Chr3:69965161 [GRCh38]
Chr3:70014312 [GRCh37]
Chr3:3p13 |
likely benign |
| GRCh37/hg19 3p14.1-13(chr3:68968872-70829637)x3 |
copy number gain |
not provided [RCV001829083] |
Chr3:68968872..70829637 [GRCh37]
Chr3:3p14.1-13 |
uncertain significance |
| NM_001354604.2(MITF):c.955+1G>C |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV002051746] |
Chr3:69951887 [GRCh38]
Chr3:70001038 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.955+1G>T |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV002052211] |
Chr3:69951887 [GRCh38]
Chr3:70001038 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter) |
single nucleotide variant |
Waardenburg syndrome type 2A [RCV002052091] |
Chr3:69937854 [GRCh38]
Chr3:69987005 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1 |
copy number loss |
not provided [RCV001829252] |
Chr3:59332508..70686155 [GRCh37]
Chr3:3p14.2-13 |
pathogenic |
| NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer) |
duplication |
Waardenburg syndrome type 2A [RCV002052255] |
Chr3:69964938..69964939 [GRCh38]
Chr3:70014089..70014090 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.104+24240del |
deletion |
not provided [RCV002224869] |
Chr3:69763940 [GRCh38]
Chr3:69813091 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1149C>T (p.His383=) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002259211]|Tietz syndrome [RCV003094207] |
Chr3:69959390 [GRCh38]
Chr3:70008541 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1396G>C (p.Glu466Gln) |
single nucleotide variant |
MITF-related condition [RCV003420552]|Tietz syndrome [RCV003112569] |
Chr3:69965063 [GRCh38]
Chr3:70014214 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NC_000003.11:g.(?_69985874)_(70014399_?)del |
deletion |
Tietz syndrome [RCV003122223] |
Chr3:69985874..70014399 [GRCh37]
Chr3:3p13 |
pathogenic |
| NC_000003.11:g.(?_70013978)_(70014399_?)del |
deletion |
Tietz syndrome [RCV003122224] |
Chr3:70013978..70014399 [GRCh37]
Chr3:3p13 |
pathogenic |
| NC_000003.11:g.(?_69985874)_(69990502_?)del |
deletion |
Tietz syndrome [RCV003122225] |
Chr3:69985874..69990502 [GRCh37]
Chr3:3p13 |
pathogenic |
| NC_000003.11:g.(?_70013978)_(70014399_?)dup |
duplication |
Tietz syndrome [RCV003122226] |
Chr3:70013978..70014399 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NC_000003.11:g.(?_69987065)_(69997137_?)del |
deletion |
Tietz syndrome [RCV003122227] |
Chr3:69987065..69997137 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.1330T>G (p.Cys444Gly) |
single nucleotide variant |
not provided [RCV003149248] |
Chr3:69964997 [GRCh38]
Chr3:70014148 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1361C>T (p.Thr454Ile) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002255873] |
Chr3:69965028 [GRCh38]
Chr3:70014179 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1516G>C (p.Gly506Arg) |
single nucleotide variant |
MITF-related condition [RCV003971211]|Tietz syndrome [RCV003094100]|not provided [RCV002251675] |
Chr3:69965183 [GRCh38]
Chr3:70014334 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1232G>T (p.Gly411Val) |
single nucleotide variant |
not provided [RCV003230130] |
Chr3:69964899 [GRCh38]
Chr3:70014050 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.666+8A>G |
single nucleotide variant |
not specified [RCV002268863] |
Chr3:69939189 [GRCh38]
Chr3:69988340 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.955+40A>T |
single nucleotide variant |
not specified [RCV002268865] |
Chr3:69951926 [GRCh38]
Chr3:70001077 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1565C>T (p.Thr522Met) |
single nucleotide variant |
Melanoma, cutaneous malignant, susceptibility to, 8 [RCV003154064]|Tietz syndrome [RCV003774850]|not provided [RCV002267223] |
Chr3:69965232 [GRCh38]
Chr3:70014383 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*7C>G |
single nucleotide variant |
MITF-related condition [RCV003896110]|not provided [RCV002287168] |
Chr3:69965255 [GRCh38]
Chr3:70014406 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.-29C>T |
single nucleotide variant |
not specified [RCV002268860] |
Chr3:69739569 [GRCh38]
Chr3:69788720 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1304T>G (p.Leu435Arg) |
single nucleotide variant |
not provided [RCV002292168] |
Chr3:69964971 [GRCh38]
Chr3:70014122 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.105-40T>C |
single nucleotide variant |
not specified [RCV002268861] |
Chr3:69879094 [GRCh38]
Chr3:69928245 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.763-50C>A |
single nucleotide variant |
not specified [RCV002268864] |
Chr3:69949001 [GRCh38]
Chr3:69998152 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.345A>G (p.Glu115=) |
single nucleotide variant |
MITF-related condition [RCV003960976]|not specified [RCV002268862] |
Chr3:69879374 [GRCh38]
Chr3:69928525 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1331G>T (p.Cys444Phe) |
single nucleotide variant |
Tietz syndrome [RCV003774928]|not provided [RCV002283087] |
Chr3:69964998 [GRCh38]
Chr3:70014149 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1056_1064delinsTATCTTAAG (p.Lys355Arg) |
indel |
not provided [RCV002291925] |
Chr3:69959297..69959305 [GRCh38]
Chr3:70008448..70008456 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.486C>A (p.Asn162Lys) |
single nucleotide variant |
Tietz syndrome [RCV002297563] |
Chr3:69937953 [GRCh38]
Chr3:69987104 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1258C>T (p.Arg420Trp) |
single nucleotide variant |
not provided [RCV002285991] |
Chr3:69964925 [GRCh38]
Chr3:70014076 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.505A>C (p.Met169Leu) |
single nucleotide variant |
Tietz syndrome [RCV002297649]|not provided [RCV003225229] |
Chr3:69937972 [GRCh38]
Chr3:69987123 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.796G>A (p.Gly266Arg) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004317016]|Tietz syndrome [RCV003779988] |
Chr3:69949084 [GRCh38]
Chr3:69998235 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.667A>G (p.Met223Val) |
single nucleotide variant |
not provided [RCV003152267] |
Chr3:69941236 [GRCh38]
Chr3:69990387 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1076A>C (p.Asp359Ala) |
single nucleotide variant |
not provided [RCV003129118] |
Chr3:69959317 [GRCh38]
Chr3:70008468 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1130G>A (p.Arg377Gln) |
single nucleotide variant |
MITF-related condition [RCV003408289]|Tietz syndrome [RCV003775534]|not provided [RCV002474172] |
Chr3:69959371 [GRCh38]
Chr3:70008522 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1492C>G (p.Pro498Ala) |
single nucleotide variant |
Tietz syndrome [RCV002303514] |
Chr3:69965159 [GRCh38]
Chr3:70014310 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1581G>A (p.Ter527=) |
single nucleotide variant |
Tietz syndrome [RCV003775529]|not provided [RCV002474073] |
Chr3:69965248 [GRCh38]
Chr3:70014399 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*1C>T |
single nucleotide variant |
not provided [RCV003152192] |
Chr3:69965249 [GRCh38]
Chr3:70014400 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1137G>T (p.Lys379Asn) |
single nucleotide variant |
Tietz syndrome [RCV002303790] |
Chr3:69959378 [GRCh38]
Chr3:70008529 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1388C>T (p.Thr463Ile) |
single nucleotide variant |
Tietz syndrome [RCV002294918] |
Chr3:69965055 [GRCh38]
Chr3:70014206 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1285G>C (p.Glu429Gln) |
single nucleotide variant |
Tietz syndrome [RCV003778897]|not provided [RCV003149460] |
Chr3:69964952 [GRCh38]
Chr3:70014103 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1493C>T (p.Pro498Leu) |
single nucleotide variant |
Tietz syndrome [RCV003098033]|not provided [RCV002305975] |
Chr3:69965160 [GRCh38]
Chr3:70014311 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-521_1180-109del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002447938] |
Chr3:69964324..69964736 [GRCh38]
Chr3:70013475..70013887 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.837C>A (p.Asn279Lys) |
single nucleotide variant |
Tietz syndrome [RCV002300383] |
Chr3:69949125 [GRCh38]
Chr3:69998276 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.512C>T (p.Pro171Leu) |
single nucleotide variant |
Tietz syndrome [RCV002299389] |
Chr3:69937979 [GRCh38]
Chr3:69987130 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1228A>G (p.Thr410Ala) |
single nucleotide variant |
Tietz syndrome [RCV002295502] |
Chr3:69964895 [GRCh38]
Chr3:70014046 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.26A>T (p.His9Leu) |
single nucleotide variant |
Tietz syndrome [RCV002295093] |
Chr3:69936748 [GRCh38]
Chr3:69985899 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.493G>A (p.Gly165Ser) |
single nucleotide variant |
Tietz syndrome [RCV002301716] |
Chr3:69937960 [GRCh38]
Chr3:69987111 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.948C>G (p.His316Gln) |
single nucleotide variant |
Tietz syndrome [RCV002301782] |
Chr3:69951879 [GRCh38]
Chr3:70001030 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.682G>A (p.Asp228Asn) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003375622]|Tietz syndrome [RCV003099137]|not provided [RCV002308975] |
Chr3:69941251 [GRCh38]
Chr3:69990402 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.964A>G (p.Arg322Gly) |
single nucleotide variant |
Tietz syndrome [RCV002303319] |
Chr3:69956463 [GRCh38]
Chr3:70005614 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.406C>T (p.Arg136Trp) |
single nucleotide variant |
Tietz syndrome [RCV003120886]|not provided [RCV002300780] |
Chr3:69937873 [GRCh38]
Chr3:69987024 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.593A>T (p.Lys198Met) |
single nucleotide variant |
Tietz syndrome [RCV002295545] |
Chr3:69939108 [GRCh38]
Chr3:69988259 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1553G>A (p.Ser518Asn) |
single nucleotide variant |
Tietz syndrome [RCV002302074] |
Chr3:69965220 [GRCh38]
Chr3:70014371 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1393A>T (p.Thr465Ser) |
single nucleotide variant |
Tietz syndrome [RCV002298089] |
Chr3:69965060 [GRCh38]
Chr3:70014211 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.369C>T (p.Leu123=) |
single nucleotide variant |
Tietz syndrome [RCV002751462] |
Chr3:69937836 [GRCh38]
Chr3:69986987 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1097G>A (p.Arg366Gln) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004141620] |
Chr3:69959338 [GRCh38]
Chr3:70008489 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1404C>T (p.Asn468=) |
single nucleotide variant |
MITF-related condition [RCV003898599]|Tietz syndrome [RCV002904783] |
Chr3:69965071 [GRCh38]
Chr3:70014222 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.650G>A (p.Arg217Gln) |
single nucleotide variant |
Tietz syndrome [RCV002571553]|not provided [RCV002508380] |
Chr3:69939165 [GRCh38]
Chr3:69988316 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1352C>T (p.Thr451Met) |
single nucleotide variant |
MITF-related condition [RCV003896209]|Tietz syndrome [RCV002571565]|not provided [RCV002508677] |
Chr3:69965019 [GRCh38]
Chr3:70014170 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1179+11T>C |
single nucleotide variant |
Tietz syndrome [RCV002971248] |
Chr3:69959431 [GRCh38]
Chr3:70008582 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.817C>G (p.Pro273Ala) |
single nucleotide variant |
Tietz syndrome [RCV002904001]|not provided [RCV003320903] |
Chr3:69949105 [GRCh38]
Chr3:69998256 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.762+13T>C |
single nucleotide variant |
Tietz syndrome [RCV002751020] |
Chr3:69941344 [GRCh38]
Chr3:69990495 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.520G>A (p.Gly174Arg) |
single nucleotide variant |
MITF-related condition [RCV003395481]|Tietz syndrome [RCV003775480]|not provided [RCV002462570] |
Chr3:69937987 [GRCh38]
Chr3:69987138 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1541G>A (p.Arg514Lys) |
single nucleotide variant |
Tietz syndrome [RCV003016603] |
Chr3:69965208 [GRCh38]
Chr3:70014359 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.370G>A (p.Glu124Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004145318]|Tietz syndrome [RCV003777865]|not provided [RCV003320924] |
Chr3:69937837 [GRCh38]
Chr3:69986988 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1032-17C>G |
single nucleotide variant |
Tietz syndrome [RCV002843703] |
Chr3:69959256 [GRCh38]
Chr3:70008407 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1502C>T (p.Ser501Phe) |
single nucleotide variant |
Tietz syndrome [RCV002993493] |
Chr3:69965169 [GRCh38]
Chr3:70014320 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.962G>A (p.Arg321Gln) |
single nucleotide variant |
not provided [RCV002511310] |
Chr3:69956461 [GRCh38]
Chr3:70005612 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.1558G>A (p.Glu520Lys) |
single nucleotide variant |
Tietz syndrome [RCV002774873] |
Chr3:69965225 [GRCh38]
Chr3:70014376 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1416T>C (p.Ser472=) |
single nucleotide variant |
Tietz syndrome [RCV003013568] |
Chr3:69965083 [GRCh38]
Chr3:70014234 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.583-14_583-3del |
deletion |
Tietz syndrome [RCV002862868] |
Chr3:69939075..69939086 [GRCh38]
Chr3:69988226..69988237 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.708T>C (p.Ser236=) |
single nucleotide variant |
Tietz syndrome [RCV002862561] |
Chr3:69941277 [GRCh38]
Chr3:69990428 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.470G>A (p.Ser157Asn) |
single nucleotide variant |
Tietz syndrome [RCV002730932] |
Chr3:69937937 [GRCh38]
Chr3:69987088 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.493G>C (p.Gly165Arg) |
single nucleotide variant |
Tietz syndrome [RCV002618644]|not provided [RCV003167524] |
Chr3:69937960 [GRCh38]
Chr3:69987111 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1290C>G (p.Asn430Lys) |
single nucleotide variant |
Tietz syndrome [RCV002755585] |
Chr3:69964957 [GRCh38]
Chr3:70014108 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1433G>A (p.Gly478Glu) |
single nucleotide variant |
Tietz syndrome [RCV002731152]|not provided [RCV003322927] |
Chr3:69965100 [GRCh38]
Chr3:70014251 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.965G>A (p.Arg322Lys) |
single nucleotide variant |
Tietz syndrome [RCV003014692]|not provided [RCV003236944] |
Chr3:69956464 [GRCh38]
Chr3:70005615 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.773C>T (p.Ser258Leu) |
single nucleotide variant |
Tietz syndrome [RCV003016364] |
Chr3:69949061 [GRCh38]
Chr3:69998212 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1456A>G (p.Met486Val) |
single nucleotide variant |
Tietz syndrome [RCV002756107] |
Chr3:69965123 [GRCh38]
Chr3:70014274 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.986A>G (p.Asp329Gly) |
single nucleotide variant |
Tietz syndrome [RCV002616333]|not provided [RCV003228124] |
Chr3:69956485 [GRCh38]
Chr3:70005636 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.681C>T (p.Ile227=) |
single nucleotide variant |
Tietz syndrome [RCV002825489] |
Chr3:69941250 [GRCh38]
Chr3:69990401 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.762G>A (p.Thr254=) |
single nucleotide variant |
Tietz syndrome [RCV003020233] |
Chr3:69941331 [GRCh38]
Chr3:69990482 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1134G>C (p.Gln378His) |
single nucleotide variant |
Tietz syndrome [RCV003019822] |
Chr3:69959375 [GRCh38]
Chr3:70008526 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.395A>T (p.Gln132Leu) |
single nucleotide variant |
Tietz syndrome [RCV003055754] |
Chr3:69937862 [GRCh38]
Chr3:69987013 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.850A>C (p.Asn284His) |
single nucleotide variant |
not provided [RCV003037010] |
Chr3:69949138 [GRCh38]
Chr3:69998289 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-7A>T |
single nucleotide variant |
MITF-related condition [RCV003963366]|Tietz syndrome [RCV002825519] |
Chr3:69964840 [GRCh38]
Chr3:70013991 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1291T>G (p.Cys431Gly) |
single nucleotide variant |
not provided [RCV003037085] |
Chr3:69964958 [GRCh38]
Chr3:70014109 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1306C>T (p.Leu436Phe) |
single nucleotide variant |
Tietz syndrome [RCV003018546] |
Chr3:69964973 [GRCh38]
Chr3:70014124 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1196C>T (p.Ala399Val) |
single nucleotide variant |
Tietz syndrome [RCV003021712] |
Chr3:69964863 [GRCh38]
Chr3:70014014 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.29A>G (p.Tyr10Cys) |
single nucleotide variant |
Tietz syndrome [RCV002975823] |
Chr3:69936751 [GRCh38]
Chr3:69985902 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.953_955+3del |
deletion |
Tietz syndrome [RCV002889744] |
Chr3:69951884..69951889 [GRCh38]
Chr3:70001035..70001040 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.881-15C>T |
single nucleotide variant |
Tietz syndrome [RCV003020392] |
Chr3:69951797 [GRCh38]
Chr3:70000948 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.738T>C (p.Asp246=) |
single nucleotide variant |
Tietz syndrome [RCV002796456] |
Chr3:69941307 [GRCh38]
Chr3:69990458 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_000248.4(MITF):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Tietz syndrome [RCV002638422] |
Chr3:69936725 [GRCh38]
Chr3:69985876 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1479C>T (p.Val493=) |
single nucleotide variant |
Tietz syndrome [RCV002780437] |
Chr3:69965146 [GRCh38]
Chr3:70014297 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1032-14C>T |
single nucleotide variant |
Tietz syndrome [RCV002886477] |
Chr3:69959259 [GRCh38]
Chr3:70008410 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.956-4G>A |
single nucleotide variant |
MITF-related condition [RCV003953929]|Tietz syndrome [RCV002619922] |
Chr3:69956451 [GRCh38]
Chr3:70005602 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.643_644dup (p.Ser216fs) |
microsatellite |
Tietz syndrome [RCV002848099] |
Chr3:69939152..69939153 [GRCh38]
Chr3:69988303..69988304 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1068A>G (p.Ala356=) |
single nucleotide variant |
Tietz syndrome [RCV002639821] |
Chr3:69959309 [GRCh38]
Chr3:70008460 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.791T>C (p.Leu264Pro) |
single nucleotide variant |
Tietz syndrome [RCV003019856] |
Chr3:69949079 [GRCh38]
Chr3:69998230 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.890T>C (p.Phe297Ser) |
single nucleotide variant |
Tietz syndrome [RCV002821038] |
Chr3:69951821 [GRCh38]
Chr3:70000972 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1265T>C (p.Ile422Thr) |
single nucleotide variant |
Tietz syndrome [RCV003020336] |
Chr3:69964932 [GRCh38]
Chr3:70014083 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1179+3A>G |
single nucleotide variant |
Tietz syndrome [RCV003019885] |
Chr3:69959423 [GRCh38]
Chr3:70008574 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.738T>G (p.Asp246Glu) |
single nucleotide variant |
Tietz syndrome [RCV002735872]|not provided [RCV003156391] |
Chr3:69941307 [GRCh38]
Chr3:69990458 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1353G>A (p.Thr451=) |
single nucleotide variant |
Tietz syndrome [RCV002619373]|not provided [RCV003227084] |
Chr3:69965020 [GRCh38]
Chr3:70014171 [GRCh37]
Chr3:3p13 |
likely benign|uncertain significance |
| NM_001354604.2(MITF):c.880+20G>A |
single nucleotide variant |
Tietz syndrome [RCV003054339] |
Chr3:69949188 [GRCh38]
Chr3:69998339 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.394C>G (p.Gln132Glu) |
single nucleotide variant |
Tietz syndrome [RCV003053626] |
Chr3:69937861 [GRCh38]
Chr3:69987012 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.666+12C>T |
single nucleotide variant |
Tietz syndrome [RCV002741676] |
Chr3:69939193 [GRCh38]
Chr3:69988344 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.582+8A>G |
single nucleotide variant |
Tietz syndrome [RCV003042957] |
Chr3:69938057 [GRCh38]
Chr3:69987208 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1315C>G (p.His439Asp) |
single nucleotide variant |
Tietz syndrome [RCV003058057] |
Chr3:69964982 [GRCh38]
Chr3:70014133 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.19T>C (p.Tyr7His) |
single nucleotide variant |
Tietz syndrome [RCV002828925] |
Chr3:69936741 [GRCh38]
Chr3:69985892 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1351A>G (p.Thr451Ala) |
single nucleotide variant |
Tietz syndrome [RCV003043486] |
Chr3:69965018 [GRCh38]
Chr3:70014169 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1055C>T (p.Thr352Ile) |
single nucleotide variant |
Tietz syndrome [RCV003026197] |
Chr3:69959296 [GRCh38]
Chr3:70008447 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1440A>T (p.Lys480Asn) |
single nucleotide variant |
Tietz syndrome [RCV002791516] |
Chr3:69965107 [GRCh38]
Chr3:70014258 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.815C>T (p.Pro272Leu) |
single nucleotide variant |
Tietz syndrome [RCV002741009] |
Chr3:69949103 [GRCh38]
Chr3:69998254 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1578T>C (p.Cys526=) |
single nucleotide variant |
Tietz syndrome [RCV002894268] |
Chr3:69965245 [GRCh38]
Chr3:70014396 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.583-3C>T |
single nucleotide variant |
Tietz syndrome [RCV002791206] |
Chr3:69939095 [GRCh38]
Chr3:69988246 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.763-16G>A |
single nucleotide variant |
Tietz syndrome [RCV002791456] |
Chr3:69949035 [GRCh38]
Chr3:69998186 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.881-18C>T |
single nucleotide variant |
Tietz syndrome [RCV002829135] |
Chr3:69951794 [GRCh38]
Chr3:70000945 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1388C>G (p.Thr463Ser) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV004146476] |
Chr3:69965055 [GRCh38]
Chr3:70014206 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1032-1G>C |
single nucleotide variant |
not provided [RCV002508741] |
Chr3:69959272 [GRCh38]
Chr3:70008423 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.582+11TCTCC[2] |
microsatellite |
Tietz syndrome [RCV002765714] |
Chr3:69938060..69938064 [GRCh38]
Chr3:69987211..69987215 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.900G>A (p.Glu300=) |
single nucleotide variant |
Tietz syndrome [RCV002982516] |
Chr3:69951831 [GRCh38]
Chr3:70000982 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1477G>C (p.Val493Leu) |
single nucleotide variant |
Tietz syndrome [RCV002765382]|not provided [RCV003443077] |
Chr3:69965144 [GRCh38]
Chr3:70014295 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.763-16G>C |
single nucleotide variant |
Tietz syndrome [RCV003025909] |
Chr3:69949035 [GRCh38]
Chr3:69998186 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-1050C>A |
single nucleotide variant |
Tietz syndrome [RCV003040996] |
Chr3:69936772 [GRCh38]
Chr3:69985923 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.519G>A (p.Pro173=) |
single nucleotide variant |
Tietz syndrome [RCV002890342] |
Chr3:69937986 [GRCh38]
Chr3:69987137 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.496G>A (p.Asp166Asn) |
single nucleotide variant |
Tietz syndrome [RCV002765438] |
Chr3:69937963 [GRCh38]
Chr3:69987114 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.450A>T (p.Lys150Asn) |
single nucleotide variant |
MITF-related condition [RCV003409928]|Tietz syndrome [RCV002786159] |
Chr3:69937917 [GRCh38]
Chr3:69987068 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1279G>A (p.Val427Ile) |
single nucleotide variant |
Tietz syndrome [RCV003023673] |
Chr3:69964946 [GRCh38]
Chr3:70014097 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.582+11TCTCC[4] |
microsatellite |
Tietz syndrome [RCV002746204] |
Chr3:69938059..69938060 [GRCh38]
Chr3:69987210..69987211 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.763-4C>G |
single nucleotide variant |
Tietz syndrome [RCV002942054] |
Chr3:69949047 [GRCh38]
Chr3:69998198 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1303C>G (p.Leu435Val) |
single nucleotide variant |
Tietz syndrome [RCV002834678] |
Chr3:69964970 [GRCh38]
Chr3:70014121 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.815del (p.Pro272fs) |
deletion |
Tietz syndrome [RCV002651712] |
Chr3:69949099 [GRCh38]
Chr3:69998250 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.957T>C (p.Ile319=) |
single nucleotide variant |
Tietz syndrome [RCV002899482] |
Chr3:69956456 [GRCh38]
Chr3:70005607 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.721A>G (p.Ile241Val) |
single nucleotide variant |
Tietz syndrome [RCV002811351] |
Chr3:69941290 [GRCh38]
Chr3:69990441 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1031+13G>A |
single nucleotide variant |
Tietz syndrome [RCV002895266] |
Chr3:69956543 [GRCh38]
Chr3:70005694 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.494G>T (p.Gly165Val) |
single nucleotide variant |
Tietz syndrome [RCV002966976] |
Chr3:69937961 [GRCh38]
Chr3:69987112 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.955+18A>G |
single nucleotide variant |
Tietz syndrome [RCV002806973] |
Chr3:69951904 [GRCh38]
Chr3:70001055 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1276C>T (p.Pro426Ser) |
single nucleotide variant |
Tietz syndrome [RCV003086355]|not provided [RCV003327585] |
Chr3:69964943 [GRCh38]
Chr3:70014094 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1032-16T>C |
single nucleotide variant |
Tietz syndrome [RCV003044935] |
Chr3:69959257 [GRCh38]
Chr3:70008408 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.764T>A (p.Leu255Ter) |
single nucleotide variant |
Tietz syndrome [RCV002857304] |
Chr3:69949052 [GRCh38]
Chr3:69998203 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1032-14C>A |
single nucleotide variant |
Tietz syndrome [RCV002834953] |
Chr3:69959259 [GRCh38]
Chr3:70008410 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.879A>G (p.Thr293=) |
single nucleotide variant |
Tietz syndrome [RCV003044027] |
Chr3:69949167 [GRCh38]
Chr3:69998318 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1031+12C>T |
single nucleotide variant |
Tietz syndrome [RCV002746380] |
Chr3:69956542 [GRCh38]
Chr3:70005693 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.684T>C (p.Asp228=) |
single nucleotide variant |
Tietz syndrome [RCV003048349] |
Chr3:69941253 [GRCh38]
Chr3:69990404 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1080T>C (p.Tyr360=) |
single nucleotide variant |
Tietz syndrome [RCV003047761] |
Chr3:69959321 [GRCh38]
Chr3:70008472 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.540C>A (p.Ser180Arg) |
single nucleotide variant |
Tietz syndrome [RCV002807025] |
Chr3:69938007 [GRCh38]
Chr3:69987158 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1420C>T (p.Pro474Ser) |
single nucleotide variant |
Tietz syndrome [RCV002651075] |
Chr3:69965087 [GRCh38]
Chr3:70014238 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.33+2T>C |
single nucleotide variant |
Tietz syndrome [RCV002857387] |
Chr3:69936757 [GRCh38]
Chr3:69985908 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.766C>A (p.Pro256Thr) |
single nucleotide variant |
Tietz syndrome [RCV003046580] |
Chr3:69949054 [GRCh38]
Chr3:69998205 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1137G>A (p.Lys379=) |
single nucleotide variant |
Tietz syndrome [RCV002810890] |
Chr3:69959378 [GRCh38]
Chr3:70008529 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1375A>G (p.Asn459Asp) |
single nucleotide variant |
Tietz syndrome [RCV003029770]|not provided [RCV003154078] |
Chr3:69965042 [GRCh38]
Chr3:70014193 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.475C>T (p.Pro159Ser) |
single nucleotide variant |
Tietz syndrome [RCV003026563] |
Chr3:69937942 [GRCh38]
Chr3:69987093 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.918G>A (p.Leu306=) |
single nucleotide variant |
Tietz syndrome [RCV002877259] |
Chr3:69951849 [GRCh38]
Chr3:70001000 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1180-17C>G |
single nucleotide variant |
Tietz syndrome [RCV002791621] |
Chr3:69964830 [GRCh38]
Chr3:70013981 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1513C>T (p.Pro505Ser) |
single nucleotide variant |
Tietz syndrome [RCV003027274] |
Chr3:69965180 [GRCh38]
Chr3:70014331 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.564C>A (p.Asn188Lys) |
single nucleotide variant |
Tietz syndrome [RCV002633171]|not provided [RCV003149055] |
Chr3:69938031 [GRCh38]
Chr3:69987182 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1296C>T (p.Ser432=) |
single nucleotide variant |
Tietz syndrome [RCV002585126] |
Chr3:69964963 [GRCh38]
Chr3:70014114 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1537C>A (p.Arg513=) |
single nucleotide variant |
Tietz syndrome [RCV002814859] |
Chr3:69965204 [GRCh38]
Chr3:70014355 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.690C>T (p.Ile230=) |
single nucleotide variant |
Tietz syndrome [RCV002944219] |
Chr3:69941259 [GRCh38]
Chr3:69990410 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.613G>A (p.Ala205Thr) |
single nucleotide variant |
Tietz syndrome [RCV002608329] |
Chr3:69939128 [GRCh38]
Chr3:69988279 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1383C>T (p.Leu461=) |
single nucleotide variant |
Tietz syndrome [RCV002633169] |
Chr3:69965050 [GRCh38]
Chr3:70014201 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-1057A>T |
single nucleotide variant |
Tietz syndrome [RCV003051797] |
Chr3:69936765 [GRCh38]
Chr3:69985916 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1379A>T (p.Asn460Ile) |
single nucleotide variant |
Tietz syndrome [RCV003779806]|not provided [RCV003225402] |
Chr3:69965046 [GRCh38]
Chr3:70014197 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1156C>G (p.Arg386Gly) |
single nucleotide variant |
not provided [RCV003223943] |
Chr3:69959397 [GRCh38]
Chr3:70008548 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.589T>G (p.Tyr197Asp) |
single nucleotide variant |
Tietz syndrome [RCV003779779]|not provided [RCV003218926] |
Chr3:69939104 [GRCh38]
Chr3:69988255 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1465A>T (p.Thr489Ser) |
single nucleotide variant |
not provided [RCV003322991] |
Chr3:69965132 [GRCh38]
Chr3:70014283 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.634A>G (p.Met212Val) |
single nucleotide variant |
not provided [RCV003319083] |
Chr3:69939149 [GRCh38]
Chr3:69988300 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1290C>A (p.Asn430Lys) |
single nucleotide variant |
Tietz syndrome [RCV003777382]|not provided [RCV003329975] |
Chr3:69964957 [GRCh38]
Chr3:70014108 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.*2G>A |
single nucleotide variant |
not provided [RCV003329859] |
Chr3:69965250 [GRCh38]
Chr3:70014401 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.27C>G (p.His9Gln) |
single nucleotide variant |
MITF-related condition [RCV003397512] |
Chr3:69936749 [GRCh38]
Chr3:69985900 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.667-6C>T |
single nucleotide variant |
MITF-related condition [RCV003949024]|Tietz syndrome [RCV003792152] |
Chr3:69941230 [GRCh38]
Chr3:69990381 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.880+5A>G |
single nucleotide variant |
Tietz syndrome [RCV003791905] |
Chr3:69949173 [GRCh38]
Chr3:69998324 [GRCh37]
Chr3:3p13 |
uncertain significance |
| GRCh37/hg19 3p14.1-13(chr3:69609107-69870154)x3 |
copy number gain |
not provided [RCV003484137] |
Chr3:69609107..69870154 [GRCh37]
Chr3:3p14.1-13 |
uncertain significance |
| NM_001354604.2(MITF):c.804A>T (p.Gln268His) |
single nucleotide variant |
not provided [RCV003442368] |
Chr3:69949092 [GRCh38]
Chr3:69998243 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1344C>T (p.Leu448=) |
single nucleotide variant |
Tietz syndrome [RCV003791414] |
Chr3:69965011 [GRCh38]
Chr3:70014162 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1201G>A (p.Ala401Thr) |
single nucleotide variant |
not provided [RCV003443509] |
Chr3:69964868 [GRCh38]
Chr3:70014019 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.488A>C (p.Gln163Pro) |
single nucleotide variant |
not provided [RCV003443223] |
Chr3:69937955 [GRCh38]
Chr3:69987106 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1050G>C (p.Lys350Asn) |
single nucleotide variant |
MITF-related condition [RCV003394316] |
Chr3:69959291 [GRCh38]
Chr3:70008442 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.104+24163C>T |
single nucleotide variant |
not provided [RCV003433664] |
Chr3:69763864 [GRCh38]
Chr3:69813015 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.108T>G (p.Ser36Arg) |
single nucleotide variant |
MITF-related condition [RCV003404402] |
Chr3:69879137 [GRCh38]
Chr3:69928288 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.483A>T (p.Pro161=) |
single nucleotide variant |
not provided [RCV003443780] |
Chr3:69937950 [GRCh38]
Chr3:69987101 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.751A>G (p.Met251Val) |
single nucleotide variant |
not provided [RCV003443546] |
Chr3:69941320 [GRCh38]
Chr3:69990471 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.815C>A (p.Pro272Gln) |
single nucleotide variant |
MITF-related condition [RCV003404614] |
Chr3:69949103 [GRCh38]
Chr3:69998254 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1031+6T>C |
single nucleotide variant |
MITF-related condition [RCV003402832] |
Chr3:69956536 [GRCh38]
Chr3:70005687 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.104+54808T>C |
single nucleotide variant |
MITF-related condition [RCV003405820] |
Chr3:69794509 [GRCh38]
Chr3:69843660 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.104+24210A>G |
single nucleotide variant |
MITF-related condition [RCV003399529] |
Chr3:69763911 [GRCh38]
Chr3:69813062 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.7G>A (p.Glu3Lys) |
single nucleotide variant |
MITF-related condition [RCV003410801] |
Chr3:69936729 [GRCh38]
Chr3:69985880 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.645T>G (p.His215Gln) |
single nucleotide variant |
not provided [RCV003441382] |
Chr3:69939160 [GRCh38]
Chr3:69988311 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1336A>G (p.Thr446Ala) |
single nucleotide variant |
not provided [RCV003441496] |
Chr3:69965003 [GRCh38]
Chr3:70014154 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.583-16G>C |
single nucleotide variant |
Tietz syndrome [RCV003794856] |
Chr3:69939082 [GRCh38]
Chr3:69988233 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.518C>T (p.Pro173Leu) |
single nucleotide variant |
Tietz syndrome [RCV003797067] |
Chr3:69937985 [GRCh38]
Chr3:69987136 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1545C>A (p.Ser515Arg) |
single nucleotide variant |
Tietz syndrome [RCV003804212] |
Chr3:69965212 [GRCh38]
Chr3:70014363 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1032-5C>T |
single nucleotide variant |
Tietz syndrome [RCV003789924] |
Chr3:69959268 [GRCh38]
Chr3:70008419 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1099G>C (p.Glu367Gln) |
single nucleotide variant |
Tietz syndrome [RCV003805524] |
Chr3:69959340 [GRCh38]
Chr3:70008491 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.828C>A (p.Thr276=) |
single nucleotide variant |
Tietz syndrome [RCV003797019] |
Chr3:69949116 [GRCh38]
Chr3:69998267 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.803A>G (p.Gln268Arg) |
single nucleotide variant |
Tietz syndrome [RCV003785140] |
Chr3:69949091 [GRCh38]
Chr3:69998242 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.440T>G (p.Leu147Ter) |
single nucleotide variant |
Tietz syndrome [RCV003804215] |
Chr3:69937907 [GRCh38]
Chr3:69987058 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1451T>C (p.Ile484Thr) |
single nucleotide variant |
Tietz syndrome [RCV003804398] |
Chr3:69965118 [GRCh38]
Chr3:70014269 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1192C>G (p.Gln398Glu) |
single nucleotide variant |
Tietz syndrome [RCV003804407] |
Chr3:69964859 [GRCh38]
Chr3:70014010 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.583-16G>T |
single nucleotide variant |
Tietz syndrome [RCV003804383] |
Chr3:69939082 [GRCh38]
Chr3:69988233 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.583-20T>A |
single nucleotide variant |
Tietz syndrome [RCV003785432] |
Chr3:69939078 [GRCh38]
Chr3:69988229 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1574C>T (p.Thr525Ile) |
single nucleotide variant |
Tietz syndrome [RCV003785438] |
Chr3:69965241 [GRCh38]
Chr3:70014392 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.762+13T>G |
single nucleotide variant |
Tietz syndrome [RCV003791857] |
Chr3:69941344 [GRCh38]
Chr3:69990495 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1198C>A (p.Arg400=) |
single nucleotide variant |
Tietz syndrome [RCV003804503] |
Chr3:69964865 [GRCh38]
Chr3:70014016 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-5T>C |
single nucleotide variant |
Tietz syndrome [RCV003791907] |
Chr3:69964842 [GRCh38]
Chr3:70013993 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1205A>T (p.His402Leu) |
single nucleotide variant |
Tietz syndrome [RCV003785306] |
Chr3:69964872 [GRCh38]
Chr3:70014023 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-12C>T |
single nucleotide variant |
Tietz syndrome [RCV003797399] |
Chr3:69964835 [GRCh38]
Chr3:70013986 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1267A>G (p.Lys423Glu) |
single nucleotide variant |
Tietz syndrome [RCV003794751] |
Chr3:69964934 [GRCh38]
Chr3:70014085 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.769G>A (p.Val257Ile) |
single nucleotide variant |
Tietz syndrome [RCV003784453] |
Chr3:69949057 [GRCh38]
Chr3:69998208 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.28T>A (p.Tyr10Asn) |
single nucleotide variant |
Tietz syndrome [RCV003805104] |
Chr3:69936750 [GRCh38]
Chr3:69985901 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1442T>C (p.Leu481Pro) |
single nucleotide variant |
Tietz syndrome [RCV003805834] |
Chr3:69965109 [GRCh38]
Chr3:70014260 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1464C>T (p.Asp488=) |
single nucleotide variant |
Tietz syndrome [RCV003794499] |
Chr3:69965131 [GRCh38]
Chr3:70014282 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1317T>C (p.His439=) |
single nucleotide variant |
Tietz syndrome [RCV003795068] |
Chr3:69964984 [GRCh38]
Chr3:70014135 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1570C>A (p.His524Asn) |
single nucleotide variant |
Tietz syndrome [RCV003793016] |
Chr3:69965237 [GRCh38]
Chr3:70014388 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.651A>C (p.Arg217=) |
single nucleotide variant |
Tietz syndrome [RCV003792322] |
Chr3:69939166 [GRCh38]
Chr3:69988317 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-10_355-6del |
deletion |
Tietz syndrome [RCV003792342] |
Chr3:69937811..69937815 [GRCh38]
Chr3:69986962..69986966 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1454T>C (p.Leu485Pro) |
single nucleotide variant |
Tietz syndrome [RCV003805957] |
Chr3:69965121 [GRCh38]
Chr3:70014272 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1370T>C (p.Phe457Ser) |
single nucleotide variant |
Tietz syndrome [RCV003791486] |
Chr3:69965037 [GRCh38]
Chr3:70014188 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.955+9G>C |
single nucleotide variant |
Tietz syndrome [RCV003794561] |
Chr3:69951895 [GRCh38]
Chr3:70001046 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-7T>C |
single nucleotide variant |
Tietz syndrome [RCV003795244] |
Chr3:69937815 [GRCh38]
Chr3:69986966 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.811C>A (p.Pro271Thr) |
single nucleotide variant |
Tietz syndrome [RCV003784955] |
Chr3:69949099 [GRCh38]
Chr3:69998250 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1506A>G (p.Ser502=) |
single nucleotide variant |
Tietz syndrome [RCV003785561] |
Chr3:69965173 [GRCh38]
Chr3:70014324 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1074G>C (p.Val358=) |
single nucleotide variant |
Tietz syndrome [RCV003805808] |
Chr3:69959315 [GRCh38]
Chr3:70008466 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1180-10C>G |
single nucleotide variant |
Tietz syndrome [RCV003795343] |
Chr3:69964837 [GRCh38]
Chr3:70013988 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1205A>C (p.His402Pro) |
single nucleotide variant |
Tietz syndrome [RCV003787831] |
Chr3:69964872 [GRCh38]
Chr3:70014023 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-15T>G |
single nucleotide variant |
Tietz syndrome [RCV003804302] |
Chr3:69964832 [GRCh38]
Chr3:70013983 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-5T>C |
single nucleotide variant |
Tietz syndrome [RCV003794109] |
Chr3:69937817 [GRCh38]
Chr3:69986968 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1271A>G (p.Gln424Arg) |
single nucleotide variant |
Tietz syndrome [RCV003780030] |
Chr3:69964938 [GRCh38]
Chr3:70014089 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1001T>C (p.Leu334Pro) |
single nucleotide variant |
Tietz syndrome [RCV003804950] |
Chr3:69956500 [GRCh38]
Chr3:70005651 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180G>A (p.Glu394Lys) |
single nucleotide variant |
Tietz syndrome [RCV003791933] |
Chr3:69964847 [GRCh38]
Chr3:70013998 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.927G>A (p.Glu309=) |
single nucleotide variant |
Tietz syndrome [RCV003804802] |
Chr3:69951858 [GRCh38]
Chr3:70001009 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1551G>A (p.Met517Ile) |
single nucleotide variant |
Tietz syndrome [RCV003794168] |
Chr3:69965218 [GRCh38]
Chr3:70014369 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.610A>G (p.Arg204Gly) |
single nucleotide variant |
Tietz syndrome [RCV003780100] |
Chr3:69939125 [GRCh38]
Chr3:69988276 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.880+19T>C |
single nucleotide variant |
Tietz syndrome [RCV003780104] |
Chr3:69949187 [GRCh38]
Chr3:69998338 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.762+19dup |
duplication |
Tietz syndrome [RCV003791382] |
Chr3:69941343..69941344 [GRCh38]
Chr3:69990494..69990495 [GRCh37]
Chr3:3p13 |
benign |
| NM_001354604.2(MITF):c.1045A>T (p.Asn349Tyr) |
single nucleotide variant |
Tietz syndrome [RCV003782832] |
Chr3:69959286 [GRCh38]
Chr3:70008437 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1237T>A (p.Cys413Ser) |
single nucleotide variant |
Tietz syndrome [RCV003782868] |
Chr3:69964904 [GRCh38]
Chr3:70014055 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.776G>A (p.Gly259Glu) |
single nucleotide variant |
Tietz syndrome [RCV003796865] |
Chr3:69949064 [GRCh38]
Chr3:69998215 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1032-19T>C |
single nucleotide variant |
Tietz syndrome [RCV003791577] |
Chr3:69959254 [GRCh38]
Chr3:70008405 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.422A>G (p.Gln141Arg) |
single nucleotide variant |
Tietz syndrome [RCV003789663] |
Chr3:69937889 [GRCh38]
Chr3:69987040 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1542G>A (p.Arg514=) |
single nucleotide variant |
Tietz syndrome [RCV003794206] |
Chr3:69965209 [GRCh38]
Chr3:70014360 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.543C>T (p.Pro181=) |
single nucleotide variant |
Tietz syndrome [RCV003806991] |
Chr3:69938010 [GRCh38]
Chr3:69987161 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1036A>G (p.Met346Val) |
single nucleotide variant |
Tietz syndrome [RCV003807317] |
Chr3:69959277 [GRCh38]
Chr3:70008428 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1313A>G (p.His438Arg) |
single nucleotide variant |
Tietz syndrome [RCV003807318] |
Chr3:69964980 [GRCh38]
Chr3:70014131 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1537C>G (p.Arg513Gly) |
single nucleotide variant |
Tietz syndrome [RCV003779461] |
Chr3:69965204 [GRCh38]
Chr3:70014355 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.495C>G (p.Gly165=) |
single nucleotide variant |
MITF-related condition [RCV003939210]|Tietz syndrome [RCV003796856] |
Chr3:69937962 [GRCh38]
Chr3:69987113 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.929G>A (p.Arg310Lys) |
single nucleotide variant |
Tietz syndrome [RCV003781006] |
Chr3:69951860 [GRCh38]
Chr3:70001011 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.739C>T (p.Pro247Ser) |
single nucleotide variant |
Tietz syndrome [RCV003794423] |
Chr3:69941308 [GRCh38]
Chr3:69990459 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1330T>C (p.Cys444Arg) |
single nucleotide variant |
Tietz syndrome [RCV003805095] |
Chr3:69964997 [GRCh38]
Chr3:70014148 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.33_33+6del |
deletion |
Tietz syndrome [RCV003805105] |
Chr3:69936754..69936760 [GRCh38]
Chr3:69985905..69985911 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1179+7A>G |
single nucleotide variant |
Tietz syndrome [RCV003795339] |
Chr3:69959427 [GRCh38]
Chr3:70008578 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.452A>G (p.His151Arg) |
single nucleotide variant |
Tietz syndrome [RCV003785502] |
Chr3:69937919 [GRCh38]
Chr3:69987070 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.582+10G>A |
single nucleotide variant |
MITF-related condition [RCV003893399]|Tietz syndrome [RCV003787543] |
Chr3:69938059 [GRCh38]
Chr3:69987210 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.862A>G (p.Ile288Val) |
single nucleotide variant |
Tietz syndrome [RCV003794439] |
Chr3:69949150 [GRCh38]
Chr3:69998301 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1108C>T (p.Arg370Cys) |
single nucleotide variant |
Tietz syndrome [RCV003794888] |
Chr3:69959349 [GRCh38]
Chr3:70008500 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.727G>A (p.Gly243Ser) |
single nucleotide variant |
Tietz syndrome [RCV003794934] |
Chr3:69941296 [GRCh38]
Chr3:69990447 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.550A>C (p.Met184Leu) |
single nucleotide variant |
Tietz syndrome [RCV003807158] |
Chr3:69938017 [GRCh38]
Chr3:69987168 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.658T>C (p.Cys220Arg) |
single nucleotide variant |
Tietz syndrome [RCV003794943] |
Chr3:69939173 [GRCh38]
Chr3:69988324 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1164G>C (p.Leu388Phe) |
single nucleotide variant |
Tietz syndrome [RCV003806496] |
Chr3:69959405 [GRCh38]
Chr3:70008556 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1241C>A (p.Ser414Tyr) |
single nucleotide variant |
Tietz syndrome [RCV003792530] |
Chr3:69964908 [GRCh38]
Chr3:70014059 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1253T>C (p.Val418Ala) |
single nucleotide variant |
Tietz syndrome [RCV003805240] |
Chr3:69964920 [GRCh38]
Chr3:70014071 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.367del (p.Leu123fs) |
deletion |
Tietz syndrome [RCV003785634] |
Chr3:69937833 [GRCh38]
Chr3:69986984 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.774G>A (p.Ser258=) |
single nucleotide variant |
Tietz syndrome [RCV003794044] |
Chr3:69949062 [GRCh38]
Chr3:69998213 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1557G>C (p.Met519Ile) |
single nucleotide variant |
Tietz syndrome [RCV003782870] |
Chr3:69965224 [GRCh38]
Chr3:70014375 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1180-8T>A |
single nucleotide variant |
Tietz syndrome [RCV003791236] |
Chr3:69964839 [GRCh38]
Chr3:70013990 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.697C>T (p.Leu233=) |
single nucleotide variant |
Tietz syndrome [RCV003792738] |
Chr3:69941266 [GRCh38]
Chr3:69990417 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1480G>A (p.Gly494Ser) |
single nucleotide variant |
Tietz syndrome [RCV003787382] |
Chr3:69965147 [GRCh38]
Chr3:70014298 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.632G>T (p.Gly211Val) |
single nucleotide variant |
Tietz syndrome [RCV003782934] |
Chr3:69939147 [GRCh38]
Chr3:69988298 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.31C>T (p.Gln11Ter) |
single nucleotide variant |
Tietz syndrome [RCV003782935] |
Chr3:69936753 [GRCh38]
Chr3:69985904 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_000248.4(MITF):c.13dup (p.Leu5fs) |
duplication |
Tietz syndrome [RCV003782952] |
Chr3:69936734..69936735 [GRCh38]
Chr3:69985885..69985886 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.999A>G (p.Glu333=) |
single nucleotide variant |
Tietz syndrome [RCV003779419] |
Chr3:69956498 [GRCh38]
Chr3:70005649 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1011G>A (p.Leu337=) |
single nucleotide variant |
Tietz syndrome [RCV003787775] |
Chr3:69956510 [GRCh38]
Chr3:70005661 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.881-8G>A |
single nucleotide variant |
Tietz syndrome [RCV003787753] |
Chr3:69951804 [GRCh38]
Chr3:70000955 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.956-6T>G |
single nucleotide variant |
Tietz syndrome [RCV003791702] |
Chr3:69956449 [GRCh38]
Chr3:70005600 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1003G>A (p.Gly335Ser) |
single nucleotide variant |
Tietz syndrome [RCV003780029] |
Chr3:69956502 [GRCh38]
Chr3:70005653 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.653C>T (p.Ala218Val) |
single nucleotide variant |
Tietz syndrome [RCV003781005] |
Chr3:69939168 [GRCh38]
Chr3:69988319 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.937A>C (p.Lys313Gln) |
single nucleotide variant |
Tietz syndrome [RCV003781007] |
Chr3:69951868 [GRCh38]
Chr3:70001019 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.364C>A (p.His122Asn) |
single nucleotide variant |
Tietz syndrome [RCV003809038] |
Chr3:69937831 [GRCh38]
Chr3:69986982 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.660_666+6del |
deletion |
Tietz syndrome [RCV003813250] |
Chr3:69939172..69939184 [GRCh38]
Chr3:69988323..69988335 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.1409C>A (p.Ala470Asp) |
single nucleotide variant |
Tietz syndrome [RCV003809148] |
Chr3:69965076 [GRCh38]
Chr3:70014227 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1032-15C>G |
single nucleotide variant |
Tietz syndrome [RCV003798969] |
Chr3:69959258 [GRCh38]
Chr3:70008409 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-1052G>A |
single nucleotide variant |
Tietz syndrome [RCV003810227] |
Chr3:69936770 [GRCh38]
Chr3:69985921 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1032-7A>G |
single nucleotide variant |
Tietz syndrome [RCV003800101] |
Chr3:69959266 [GRCh38]
Chr3:70008417 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1180-14T>C |
single nucleotide variant |
Tietz syndrome [RCV003800182] |
Chr3:69964833 [GRCh38]
Chr3:70013984 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.956-17G>T |
single nucleotide variant |
Tietz syndrome [RCV003813368] |
Chr3:69956438 [GRCh38]
Chr3:70005589 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1180-4A>G |
single nucleotide variant |
Tietz syndrome [RCV003809545] |
Chr3:69964843 [GRCh38]
Chr3:70013994 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.955+7T>G |
single nucleotide variant |
Tietz syndrome [RCV003809668] |
Chr3:69951893 [GRCh38]
Chr3:70001044 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.762+4T>C |
single nucleotide variant |
Tietz syndrome [RCV003799501] |
Chr3:69941335 [GRCh38]
Chr3:69990486 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.598G>A (p.Glu200Lys) |
single nucleotide variant |
Tietz syndrome [RCV003808809] |
Chr3:69939113 [GRCh38]
Chr3:69988264 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1002A>G (p.Leu334=) |
single nucleotide variant |
Tietz syndrome [RCV003813685] |
Chr3:69956501 [GRCh38]
Chr3:70005652 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.788A>C (p.Asp263Ala) |
single nucleotide variant |
Tietz syndrome [RCV003800842] |
Chr3:69949076 [GRCh38]
Chr3:69998227 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.880+8C>T |
single nucleotide variant |
Tietz syndrome [RCV003813178] |
Chr3:69949176 [GRCh38]
Chr3:69998327 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.880+7A>G |
single nucleotide variant |
Tietz syndrome [RCV003799791] |
Chr3:69949175 [GRCh38]
Chr3:69998326 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-1048C>T |
single nucleotide variant |
Tietz syndrome [RCV003800870] |
Chr3:69936774 [GRCh38]
Chr3:69985925 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.762+1G>A |
single nucleotide variant |
Tietz syndrome [RCV003801884] |
Chr3:69941332 [GRCh38]
Chr3:69990483 [GRCh37]
Chr3:3p13 |
likely pathogenic |
| NM_001354604.2(MITF):c.583-14T>A |
single nucleotide variant |
Tietz syndrome [RCV003808196] |
Chr3:69939084 [GRCh38]
Chr3:69988235 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1461C>T (p.Asp487=) |
single nucleotide variant |
Tietz syndrome [RCV003798694] |
Chr3:69965128 [GRCh38]
Chr3:70014279 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1210C>T (p.Leu404Phe) |
single nucleotide variant |
Tietz syndrome [RCV003799219] |
Chr3:69964877 [GRCh38]
Chr3:70014028 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.681C>A (p.Ile227=) |
single nucleotide variant |
Tietz syndrome [RCV003798734] |
Chr3:69941250 [GRCh38]
Chr3:69990401 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-15C>T |
single nucleotide variant |
Tietz syndrome [RCV003808442] |
Chr3:69937807 [GRCh38]
Chr3:69986958 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1463A>G (p.Asp488Gly) |
single nucleotide variant |
Tietz syndrome [RCV003809621] |
Chr3:69965130 [GRCh38]
Chr3:70014281 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.355-1050C>T |
single nucleotide variant |
Tietz syndrome [RCV003799025] |
Chr3:69936772 [GRCh38]
Chr3:69985923 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.544A>C (p.Met182Leu) |
single nucleotide variant |
Tietz syndrome [RCV003813304] |
Chr3:69938011 [GRCh38]
Chr3:69987162 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1182A>T (p.Glu394Asp) |
single nucleotide variant |
Tietz syndrome [RCV003800607] |
Chr3:69964849 [GRCh38]
Chr3:70014000 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.627C>T (p.Cys209=) |
single nucleotide variant |
Tietz syndrome [RCV003809047] |
Chr3:69939142 [GRCh38]
Chr3:69988293 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1353G>T (p.Thr451=) |
single nucleotide variant |
Tietz syndrome [RCV003799856] |
Chr3:69965020 [GRCh38]
Chr3:70014171 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
Tietz syndrome [RCV003798921] |
Chr3:69938047 [GRCh38]
Chr3:69987198 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.657C>T (p.Ser219=) |
single nucleotide variant |
Tietz syndrome [RCV003799395] |
Chr3:69939172 [GRCh38]
Chr3:69988323 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.763-19A>C |
single nucleotide variant |
Tietz syndrome [RCV003812323] |
Chr3:69949032 [GRCh38]
Chr3:69998183 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.656C>G (p.Ser219Cys) |
single nucleotide variant |
Tietz syndrome [RCV003800828] |
Chr3:69939171 [GRCh38]
Chr3:69988322 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1398G>A (p.Glu466=) |
single nucleotide variant |
Tietz syndrome [RCV003812303] |
Chr3:69965065 [GRCh38]
Chr3:70014216 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.624G>A (p.Glu208=) |
single nucleotide variant |
Tietz syndrome [RCV003799243] |
Chr3:69939139 [GRCh38]
Chr3:69988290 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_000248.4(MITF):c.17A>G (p.Glu6Gly) |
single nucleotide variant |
Tietz syndrome [RCV003798792] |
Chr3:69936739 [GRCh38]
Chr3:69985890 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1031+5G>A |
single nucleotide variant |
Tietz syndrome [RCV003812611] |
Chr3:69956535 [GRCh38]
Chr3:70005686 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1104G>A (p.Gln368=) |
single nucleotide variant |
Tietz syndrome [RCV003809072] |
Chr3:69959345 [GRCh38]
Chr3:70008496 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.859A>G (p.Asn287Asp) |
single nucleotide variant |
Tietz syndrome [RCV003798946] |
Chr3:69949147 [GRCh38]
Chr3:69998298 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.880+6C>G |
single nucleotide variant |
Tietz syndrome [RCV003808080] |
Chr3:69949174 [GRCh38]
Chr3:69998325 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.511C>A (p.Pro171Thr) |
single nucleotide variant |
Tietz syndrome [RCV003809290] |
Chr3:69937978 [GRCh38]
Chr3:69987129 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1131A>G (p.Arg377=) |
single nucleotide variant |
Tietz syndrome [RCV003799132] |
Chr3:69959372 [GRCh38]
Chr3:70008523 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1466C>G (p.Thr489Ser) |
single nucleotide variant |
Tietz syndrome [RCV003813664] |
Chr3:69965133 [GRCh38]
Chr3:70014284 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.355-18C>T |
single nucleotide variant |
Tietz syndrome [RCV003802688] |
Chr3:69937804 [GRCh38]
Chr3:69986955 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.955+11T>C |
single nucleotide variant |
Tietz syndrome [RCV003803152] |
Chr3:69951897 [GRCh38]
Chr3:70001048 [GRCh37]
Chr3:3p13 |
likely benign |
| GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1 |
copy number loss |
not specified [RCV003986442] |
Chr3:62188399..71663248 [GRCh37]
Chr3:3p14.2-13 |
pathogenic |
| NM_000248.4(MITF):c.24T>A (p.Asn8Lys) |
single nucleotide variant |
Tietz syndrome [RCV003803250] |
Chr3:69936746 [GRCh38]
Chr3:69985897 [GRCh37]
Chr3:3p13 |
uncertain significance |
| GRCh37/hg19 3p13(chr3:69921510-69928465)x1 |
copy number loss |
not specified [RCV003986459] |
Chr3:69921510..69928465 [GRCh37]
Chr3:3p13 |
pathogenic |
| NM_001354604.2(MITF):c.1180-7A>G |
single nucleotide variant |
Tietz syndrome [RCV003803746] |
Chr3:69964840 [GRCh38]
Chr3:70013991 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.764T>C (p.Leu255Ser) |
single nucleotide variant |
Tietz syndrome [RCV003803026] |
Chr3:69949052 [GRCh38]
Chr3:69998203 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.355-1049T>C |
single nucleotide variant |
Tietz syndrome [RCV003803035] |
Chr3:69936773 [GRCh38]
Chr3:69985924 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1031+12C>A |
single nucleotide variant |
Tietz syndrome [RCV003803232] |
Chr3:69956542 [GRCh38]
Chr3:70005693 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.1425A>G (p.Thr475=) |
single nucleotide variant |
Tietz syndrome [RCV003802037] |
Chr3:69965092 [GRCh38]
Chr3:70014243 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.583-4G>A |
single nucleotide variant |
Tietz syndrome [RCV003802302] |
Chr3:69939094 [GRCh38]
Chr3:69988245 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.955+3A>T |
single nucleotide variant |
Tietz syndrome [RCV003802426] |
Chr3:69951889 [GRCh38]
Chr3:70001040 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.607A>G (p.Asn203Asp) |
single nucleotide variant |
Tietz syndrome [RCV003803545] |
Chr3:69939122 [GRCh38]
Chr3:69988273 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1511C>G (p.Ser504Cys) |
single nucleotide variant |
Tietz syndrome [RCV003802588] |
Chr3:69965178 [GRCh38]
Chr3:70014329 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.1506A>T (p.Ser502=) |
single nucleotide variant |
MITF-related condition [RCV003899874] |
Chr3:69965173 [GRCh38]
Chr3:70014324 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.105-12832T>C |
single nucleotide variant |
MITF-related condition [RCV003952278] |
Chr3:69866302 [GRCh38]
Chr3:69915453 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.354+7G>A |
single nucleotide variant |
MITF-related condition [RCV003914035] |
Chr3:69879390 [GRCh38]
Chr3:69928541 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.355-1103T>A |
single nucleotide variant |
MITF-related condition [RCV003942185] |
Chr3:69936719 [GRCh38]
Chr3:69985870 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.111C>T (p.Ser37=) |
single nucleotide variant |
MITF-related condition [RCV003972045] |
Chr3:69879140 [GRCh38]
Chr3:69928291 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.141G>T (p.Pro47=) |
single nucleotide variant |
MITF-related condition [RCV003947074] |
Chr3:69879170 [GRCh38]
Chr3:69928321 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.141G>A (p.Pro47=) |
single nucleotide variant |
MITF-related condition [RCV003957273] |
Chr3:69879170 [GRCh38]
Chr3:69928321 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.273C>T (p.Pro91=) |
single nucleotide variant |
MITF-related condition [RCV003902198] |
Chr3:69879302 [GRCh38]
Chr3:69928453 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.339G>A (p.Pro113=) |
single nucleotide variant |
MITF-related condition [RCV003901593] |
Chr3:69879368 [GRCh38]
Chr3:69928519 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.477A>G (p.Pro159=) |
single nucleotide variant |
MITF-related condition [RCV003901843] |
Chr3:69937944 [GRCh38]
Chr3:69987095 [GRCh37]
Chr3:3p13 |
likely benign |
| NM_001354604.2(MITF):c.105-12791A>G |
single nucleotide variant |
MITF-related condition [RCV003952036] |
Chr3:69866343 [GRCh38]
Chr3:69915494 [GRCh37]
Chr3:3p13 |
uncertain significance |
| NM_001354604.2(MITF):c.64A>G (p.Lys22Glu) |
single nucleotide variant |
MITF-related condition [RCV003947227] |
Chr3:69739661 [GRCh38]
Chr3:69788812 [GRCh37]
Chr3:3p13 |
uncertain significance |
