MITF — 1298 ClinVar variants

All ClinVar germline MITF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 592 flagged for review →

77 Pathogenic · 9 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 61 Conflicting · 42 Benign · 16 Benign/Likely benign · 331 Likely benign · 713 Uncertain significance

Full MITF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 592

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

MITF p.Tyr265Cys Likely pathogenic No assertion criteria
Waardenburg syndrome

Predictors agree, ClinVar conflicts 26

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MITF p.Ala384Thr Conflicting Single submitter
Tietz syndrome
MITF p.Arg321Gln Conflicting Single submitter
MITF-related disorder
MITF p.Arg323Gly Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Arg347Cys Conflicting Single submitter
MITF-related disorder
MITF p.Arg347Gly Conflicting Single submitter
Tietz syndrome
MITF p.Asn317Ile Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Asn317Ser Conflicting Single submitter
intellectual disability
MITF p.Asn460Ile Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Gln202Pro Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Glu320Gln Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Glu466Lys Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Gly211Asp Conflicting Single submitter
Tietz syndrome
MITF p.Gly266Arg Conflicting Single submitter
Tietz syndrome
MITF p.Gly462Arg Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Gly506Glu Conflicting Single submitter
Tietz syndrome
MITF p.His215Leu Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Leu106Phe Conflicting Single submitter
MITF-related disorder
MITF p.Met169Val Conflicting Single submitter
MITF-related disorder
MITF p.Met517Ile Conflicting Single submitter
Tietz syndrome
MITF p.Pro247Ser Conflicting Single submitter
Tietz syndrome
MITF p.Pro272Gln Conflicting Single submitter
hereditary neoplastic syndrome
MITF p.Pro408Ala Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Thr110Met Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Thr463Asn Conflicting Single submitter
Tietz syndrome
MITF p.Tyr471Phe Conflicting Single submitter
MITF-related disorder
MITF p.Val358Met Conflicting Single submitter
Waardenburg syndrome type 2A

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

MITF p.Gln11Ter Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Ter527= Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 459

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 459

MITF p.Ala148Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ala152Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ala177Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ala183Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ala205Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ala218Val Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ala252Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ala294Glu Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Ala294Val Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Ala371Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ala371Thr Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Ala384Ser Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ala399Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ala401Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ala470Asp Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg136Gln Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg217Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Arg322Lys Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg330His Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Arg347His Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg362Gln Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg366Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Arg370Cys Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg370Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Arg386Gly Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Arg400Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Arg420Gln Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Arg513Gln Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg514Lys Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg73His Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Asn153Lys Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asn162His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asn162Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asn188Lys Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Asn279Ser Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asn284Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asn287Asp Uncertain significance Multiple submitters
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MITF p.Asn342Asp Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Asn342Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asn430Lys Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asn430Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asn458Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asn459Asp Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp166Asn Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp224His Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp225Gly Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp246Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp246Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asp263Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asp329Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asp416Val Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp441Asn Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp449Asn Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp452Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asp452Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asp488Asn Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asp488Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Cys160Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Cys209Tyr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Cys220Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Cys295Tyr Uncertain significance Multiple submitters
MITF-related disorder
MITF p.Cys444Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Cys444Phe Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gln132Lys Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Gln141Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Gln163Pro Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Gln268Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gln268Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gln268His Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Gln398Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Gln433Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gln437Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Glu208Lys Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Glu333Lys Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Glu367Gln Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Glu373Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Glu429Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Glu466Gln Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Glu520Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Gly165Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gly165Val Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gly243Ser Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gly259Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gly269Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Gly269Val Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gly274Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Gly403Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Gly462Glu Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Gly478Ala Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Gly478Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Gly494Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.His151Pro Uncertain significance Multiple submitters
Tietz syndrome
MITF p.His151Tyr Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.His215Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.His215Gln Uncertain significance Multiple submitters
Tietz syndrome
MITF p.His402Pro Uncertain significance Multiple submitters
Tietz syndrome
MITF p.His438Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.His439Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.His524Asn Uncertain significance Multiple submitters
Tietz syndrome
MITF p.His524Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ile241Val Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ile277Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ile288Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ile392Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ile455Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Leu143Ile Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu242Phe Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu244Phe Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu275Ile Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Leu275Val Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu334Pro Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Leu404Pro Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Leu406Phe Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu417Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Leu436Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu436Phe Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu450Val Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Lys198Asn Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Lys198Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Lys423Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Lys423Met Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Lys476Glu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Lys480Asn Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Lys509Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Met169Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Met182Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Met184Leu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Met221Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Met223Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Met397Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Met477Ile Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Phe199Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Phe297Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Pro159Ser Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Pro159Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Pro164Ser Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Pro170Thr Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Pro171Leu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Pro173Leu Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Pro272Arg Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Pro272Leu Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Pro273Ala Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Pro273Gln Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Pro286Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Pro298Ser Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Pro344Leu Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Pro415Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Pro415Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Pro426His Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Pro426Ser Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8

Predictors split 104

The independent predictors disagree with each other — read with care.

MITF p.Arg136Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Arg377Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Arg386Gln Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg400Gln Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Arg420Trp Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Arg73Cys Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Asn287Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asn385Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asp228Asn Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Asp246Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Asp416Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Gln132Glu Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Glu124Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Glu124Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Glu394Asp Uncertain significance Multiple submitters
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
MITF p.Gly174Arg Uncertain significance Multiple submitters
MITF-related disorder
MITF p.His387Tyr Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Ile422Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Leu255Ser Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Leu448Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Leu485Pro Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Lys140Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Lys150Asn Uncertain significance Multiple submitters
MITF-related disorder
MITF p.Met182Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Met184Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Met397Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Met486Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Pro256Thr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Pro498Leu Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Ser235Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ser278Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ser301Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Ser414Tyr Uncertain significance Multiple submitters
Tietz syndrome
MITF p.Ser501Phe Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Ser515Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Thr145Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
MITF p.Val257Asp Uncertain significance Multiple submitters
Waardenburg syndrome type 2A
MITF p.Ala183Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Ala252Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Ala507Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Arg290Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Arg370His Uncertain significance Single submitter
Waardenburg syndrome type 2A
MITF p.Asn238Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Asn253Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Asn279Lys Uncertain significance Single submitter
Tietz syndrome
MITF p.Asn376Ile Conflicting Single submitter
hereditary neoplastic syndrome
MITF p.Asn385Ser Conflicting Single submitter
Waardenburg syndrome type 2A
MITF p.Asp263Ala Uncertain significance Single submitter
Tietz syndrome
MITF p.Asp452Val Uncertain significance Single submitter
Tietz syndrome
MITF p.Asp497His Uncertain significance Single submitter
Tietz syndrome
MITF p.Cys281Tyr Uncertain significance Single submitter
Tietz syndrome
MITF p.Gln369Glu Uncertain significance Single submitter
Tietz syndrome
MITF p.Gln369Leu Uncertain significance Single submitter
Tietz syndrome
MITF p.Glu239Lys Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Glu240Lys Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Glu291Asp Uncertain significance Single submitter
Tietz syndrome
MITF p.Glu300Gln Uncertain significance Single submitter
Tietz syndrome
MITF p.Gly259Arg Uncertain significance Single submitter
Tietz syndrome
MITF p.Gly453Asp Uncertain significance Single submitter
Waardenburg syndrome type 2A
MITF p.Ile131Thr Uncertain significance Single submitter
Tietz syndrome
MITF p.Ile230Val Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Ile361Val Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Ile484Thr Uncertain significance Single submitter
Tietz syndrome
MITF p.Leu143Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Leu374Phe Uncertain significance Single submitter
Waardenburg syndrome type 2A
MITF p.Leu388Phe Uncertain significance Single submitter
Tietz syndrome
MITF p.Leu389Phe Uncertain significance Single submitter
MITF p.Leu448Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Leu481Pro Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Leu499Pro Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Lys128Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Lys308Arg Uncertain significance Single submitter
Tietz syndrome
MITF p.Lys340Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Lys379Asn Uncertain significance Single submitter
Tietz syndrome
MITF p.Lys379Glu Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Met182Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Met184Ile Uncertain significance Single submitter
Tietz syndrome
MITF p.Met223Arg Uncertain significance Single submitter
Tietz syndrome
MITF p.Met223Ile Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Met251Lys Uncertain significance Single submitter
MITF p.Met251Thr Uncertain significance Single submitter
Tietz syndrome
MITF p.Met346Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Met486Lys Uncertain significance Single submitter
Tietz syndrome
MITF p.Phe457Ser Conflicting Single submitter
Tietz syndrome
MITF p.Pro178Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Pro282Leu Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Pro426Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Pro505Arg Uncertain significance Single submitter
Tietz syndrome
MITF p.Ser101Arg Uncertain significance Single submitter
Tietz syndrome
MITF p.Ser180Arg Uncertain significance Single submitter
Tietz syndrome
MITF p.Ser180Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Ser180Ile Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Ser409Phe Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 8
MITF p.Ser409Tyr Uncertain significance Single submitter
Tietz syndrome
MITF p.Ser518Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Thr299Ala Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Thr299Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Thr447Ile Uncertain significance Single submitter
Tietz syndrome
MITF p.Thr454Ile Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Tyr142Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Tyr142His Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Val119Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Val226Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
MITF p.Pro282Gln Uncertain significance No assertion criteria
MITF-related disorder

All MITF variants

Pathogenic 77

c.1031+1G>A Multiple submitters Tietz syndrome
c.1179+1G>A Multiple submitters Waardenburg syndrome type 2A
c.956-1G>A Multiple submitters Waardenburg syndrome type 2A
p.Arg321Ter Multiple submitters MITF-related disorder
p.Arg324del Multiple submitters Monogenic hearing loss
p.Arg324Ter Multiple submitters Waardenburg syndrome type 2A
p.Arg366Ter Multiple submitters Waardenburg syndrome type 2A
p.Asp225fs Multiple submitters Waardenburg syndrome type 2A
p.Pro272fs Multiple submitters Waardenburg syndrome type 2A
p.Ser235Ter Multiple submitters Rare genetic deafness
p.Thr299fs Multiple submitters Waardenburg syndrome type 2A
c.1032-2A>G Single submitter Monogenic hearing loss
c.1179+2T>C Single submitter Tietz syndrome
c.1180-5_1203dup Single submitter Waardenburg syndrome type 2A
c.33+1G>A Single submitter MITF-related disorder
c.763-1G>A Single submitter Waardenburg syndrome type 2A
c.880+1del Single submitter Waardenburg syndrome type 2A
c.(?_938 Single submitter Rare genetic deafness
c.956-2A>G Single submitter Tietz syndrome
p.Ala305fs Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Arg323fs Single submitter Waardenburg syndrome type 2A
p.Arg324Lys Single submitter Waardenburg syndrome type 2A
p.Arg400Ter Single submitter Tietz syndrome
p.Asn430fs Single submitter Waardenburg syndrome type 2A
p.Asn459fs Single submitter Waardenburg syndrome type 2A
p.Asn8fs Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Asp224fs Single submitter Waardenburg syndrome type 2A
p.Asp449fs Single submitter
p.Asp452fs Single submitter Tietz syndrome
p.Cys431fs Single submitter Waardenburg syndrome type 2A
p.Gln133Ter Single submitter
p.Gln138Ter Single submitter Tietz syndrome
p.Gln365fs Single submitter Waardenburg syndrome type 2A
p.Gln365Ter Single submitter
p.Gln369Ter Single submitter Waardenburg syndrome type 2A
p.Gln378Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Gln393fs Single submitter Tietz syndrome
p.Glu320Gly Single submitter Waardenburg syndrome type 2A
p.Glu333fs Single submitter Waardenburg syndrome type 2A
p.Glu425Ter Single submitter Waardenburg syndrome type 2A
p.His215fs Single submitter Waardenburg syndrome type 2A
p.His316Arg Single submitter
p.His316Asp Single submitter Waardenburg syndrome type 2A
p.His316fs Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Ile230fs Single submitter Waardenburg syndrome type 2A
p.Ile327fs Single submitter Waardenburg syndrome type 2A
p.Ile407fs Single submitter Waardenburg syndrome type 2A
p.Leu123fs Single submitter Tietz syndrome
p.Leu242fs Single submitter Waardenburg syndrome type 2A
p.Leu255Ter Single submitter Waardenburg syndrome type 2A
p.Leu270= Single submitter Waardenburg syndrome type 2A
p.Leu306fs Single submitter
p.Leu334fs Single submitter Waardenburg syndrome type 2A
p.Leu354Ter Single submitter Tietz syndrome
p.Lys312Ter Single submitter Waardenburg syndrome type 2A
p.Lys372fs Single submitter Tietz syndrome
p.Pro164fs Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Ser216fs Single submitter Waardenburg syndrome type 2A
p.Ser219fs Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Ser258fs Single submitter Waardenburg syndrome type 2A
p.Ser341Ter Single submitter Waardenburg syndrome type 2A
p.Thr254fs Single submitter Waardenburg syndrome type 2A
p.Thr293_Ala294insTer Single submitter Waardenburg syndrome type 2A
p.Thr293fs Single submitter Waardenburg syndrome type 2A
p.Thr443fs Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Thr525fs Single submitter Waardenburg syndrome type 2A
p.Trp348Ter Single submitter Rare genetic deafness
p.Tyr142Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Tyr237fs Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Tyr265Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.763-2A>C No assertion criteria Waardenburg syndrome type 2A
c.955+1G>C No assertion criteria Waardenburg syndrome type 2A
p.Arg324Gly No assertion criteria coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
p.Glu382fs No assertion criteria Waardenburg syndrome type 2A
p.Gly403fs No assertion criteria Waardenburg syndrome type 2A
p.Lys313Asn No assertion criteria coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
p.Ser357Pro No assertion criteria Waardenburg syndrome type 2A

Pathogenic/Likely pathogenic 9

c.355-1062G>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Arg217Ter Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Arg362Ter Multiple submitters Waardenburg syndrome type 2A
p.Arg377Ter Multiple submitters Waardenburg syndrome type 2A
p.Gln311Ter Multiple submitters Waardenburg syndrome type 2
p.Glu333Ter Multiple submitters Waardenburg syndrome type 2
p.Leu147Ter Multiple submitters Tietz syndrome
p.Leu318Pro Multiple submitters Tietz syndrome
p.Thr410= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8

Likely pathogenic 49

c.1180-2A>G Multiple submitters Waardenburg syndrome
c.880+1G>A Multiple submitters Waardenburg syndrome type 2A
c.955+1G>A Multiple submitters Waardenburg syndrome type 2A
p.Arg310Gly Multiple submitters Waardenburg syndrome type 2A
p.Glu309Lys Multiple submitters Tietz syndrome
p.Gly351Glu Multiple submitters MITF-related disorder
c.1031+1G>C Single submitter Waardenburg syndrome type 2A
c.1031+1G>T Single submitter MITF-related disorder
c.1031+4A>C Single submitter Waardenburg syndrome type 2A
c.1032-1G>C Single submitter
c.660_666+6del Single submitter Waardenburg syndrome type 2A
c.666+1G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.762+1G>A Single submitter Tietz syndrome
c.880+2T>C Single submitter Waardenburg syndrome type 2A
c.881-2A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.953_955+3del Single submitter Waardenburg syndrome type 2A
c.955+1G>T Single submitter Waardenburg syndrome type 2A
p.Ala294fs Single submitter Waardenburg syndrome type 2A
p.Ala399fs Single submitter Waardenburg syndrome type 2A
p.Arg217fs Single submitter Waardenburg syndrome type 2A
p.Arg321Gly Single submitter Waardenburg syndrome type 2A
p.Arg321Leu Single submitter Waardenburg syndrome type 2A
p.Arg324Thr Single submitter hereditary neoplastic syndrome
p.Asn317Lys Single submitter MITF-related disorder
p.Asn328Lys Single submitter autosomal dominant nonsyndromic hearing loss
p.Asp263fs Single submitter MITF-related disorder
p.Gln132fs Single submitter Waardenburg syndrome type 2A
p.Gln268Ter Single submitter Waardenburg syndrome type 2A
p.Gln393Ter Single submitter MITF-related disorder
p.Glu194fs Single submitter Tietz syndrome
p.Glu300fs Single submitter Waardenburg syndrome type 2A
p.Glu429fs Single submitter Waardenburg syndrome type 2A
p.Gly266Ter Single submitter MITF-related disorder
p.Gly351Arg Single submitter Waardenburg syndrome type 2A
p.His316del Single submitter MITF-related disorder
p.Ile319Met Single submitter Tietz syndrome
p.Ile319Ser Single submitter
p.Ile327Thr Single submitter hearing loss disorder
p.Leu244Pro Single submitter Waardenburg syndrome type 2A
p.Leu334Arg Single submitter Waardenburg syndrome type 2A
p.Leu381fs Single submitter Monogenic hearing loss
p.Ser357Tyr Single submitter Waardenburg syndrome type 2A
p.Ser432delinsArgThrArgSerTer Single submitter Waardenburg syndrome type 2A
p.Tyr10Ter Single submitter Waardenburg syndrome type 2A
p.Tyr129Ter Single submitter Waardenburg syndrome type 2A
p.Tyr360Ser Single submitter Waardenburg syndrome type 2A
p.Asn279fs No assertion criteria MITF-related disorder
p.Lys379Ter No assertion criteria coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
p.Tyr265Cys No assertion criteria Waardenburg syndrome ⚠

Conflicting classifications of pathogenicity 61

c.1031+14C>T Single submitter Tietz syndrome
c.1031+15G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.1032-4G>A Single submitter Tietz syndrome
c.104+24226G>A Single submitter hereditary neoplastic syndrome
c.1179+14G>A Single submitter Waardenburg syndrome type 2A
c.1179+15T>C Single submitter Waardenburg syndrome type 2A
c.1179+4C>T Single submitter Tietz syndrome
c.1179+5G>A Single submitter Tietz syndrome
c.1179+6C>T Single submitter Waardenburg syndrome type 2A
c.355-8A>G Single submitter Waardenburg syndrome type 2A
c.583-9T>C Single submitter Tietz syndrome
c.666+5T>C Single submitter Waardenburg syndrome type 2A
c.881-6G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.881-7T>A Single submitter Tietz syndrome
c.881-9C>T Single submitter Tietz syndrome
c.956-3A>T Single submitter Tietz syndrome
c.*1570C>T Single submitter Waardenburg syndrome type 2A
p.Ala177= Single submitter Waardenburg syndrome type 2A
p.Ala384Thr Single submitter Tietz syndrome ⚠
p.Arg321Gln Single submitter MITF-related disorder ⚠
p.Arg323Gly Single submitter Waardenburg syndrome type 2A ⚠
p.Arg330= Single submitter hereditary neoplastic syndrome
p.Arg347Cys Single submitter MITF-related disorder ⚠
p.Arg347Gly Single submitter Tietz syndrome ⚠
p.Asn179= Single submitter Waardenburg syndrome type 2A
p.Asn213= Single submitter Waardenburg syndrome type 2A
p.Asn317Ile Single submitter Waardenburg syndrome type 2A ⚠
p.Asn317Ser Single submitter intellectual disability ⚠
p.Asn376Ile Single submitter hereditary neoplastic syndrome ⚠
p.Asn385Ser Single submitter Waardenburg syndrome type 2A ⚠
p.Asn460Ile Single submitter Waardenburg syndrome type 2A ⚠
p.Asp246Asn Single submitter Anophthalmia-microphthalmia syndrome
p.Gln11Ter Single submitter Waardenburg syndrome type 2A ⚠
p.Gln163= Single submitter Waardenburg syndrome type 2A
p.Gln202Pro Single submitter Waardenburg syndrome type 2A ⚠
p.Glu320Gln Single submitter melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Glu3Lys Single submitter Tietz syndrome
p.Glu466Lys Single submitter Waardenburg syndrome type 2A ⚠
p.Gly211Asp Single submitter Tietz syndrome ⚠
p.Gly266Arg Single submitter Tietz syndrome ⚠
p.Gly462Arg Single submitter melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Gly506Glu Single submitter Tietz syndrome ⚠
p.His215Leu Single submitter melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Leu106Phe Single submitter MITF-related disorder ⚠
p.Leu318= Single submitter hereditary neoplastic syndrome
p.Met169Val Single submitter MITF-related disorder ⚠
p.Met223Ile Single submitter melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Met517Ile Single submitter Tietz syndrome ⚠
p.Phe457Ser Single submitter Tietz syndrome ⚠
p.Pro247Ser Single submitter Tietz syndrome ⚠
p.Pro272Gln Single submitter hereditary neoplastic syndrome ⚠
p.Pro408Ala Single submitter Waardenburg syndrome type 2A ⚠
p.Ser157= Single submitter hereditary neoplastic syndrome
p.Ser207= Single submitter Tietz syndrome
p.Ser512= Single submitter hereditary neoplastic syndrome
p.Ter527= Single submitter hereditary neoplastic syndrome ⚠
p.Thr110Met Single submitter melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Thr451= Single submitter Waardenburg syndrome type 2A
p.Thr463Asn Single submitter Tietz syndrome ⚠
p.Tyr471Phe Single submitter MITF-related disorder ⚠
p.Val358Met Single submitter Waardenburg syndrome type 2A ⚠

Benign 42

c.104+24051C>T Multiple submitters
c.582+126C>T Multiple submitters
c.582+507C>T Multiple submitters
c.*1150T>C Multiple submitters Waardenburg syndrome type 2A
c.*1248T>C Multiple submitters Waardenburg syndrome type 2A
c.*2068C>T Multiple submitters Tietz syndrome
c.*228C>T Multiple submitters Waardenburg syndrome type 2A
c.*2458G>A Multiple submitters Tietz syndrome
c.*2505C>T Multiple submitters Tietz syndrome
c.*2580C>T Multiple submitters Waardenburg syndrome type 2A
c.*48T>C Multiple submitters Waardenburg syndrome type 2A
p.Thr110= Multiple submitters Waardenburg syndrome type 2A
c.104+54808T>A Single submitter
c.1179+217G>T Single submitter
c.1180-188G>A Single submitter
c.1180-254C>T Single submitter
c.1180-521_1180-109del Single submitter hereditary neoplastic syndrome
c.354+143G>A Single submitter
c.354+297A>G Single submitter
c.354+327T>C Single submitter
c.355-194A>C Single submitter
c.355-857dup Single submitter
c.667-109A>G Single submitter
c.762+19dup Single submitter Tietz syndrome
c.880+261T>A Single submitter
c.881-227dup Single submitter
c.*1101G>A Single submitter Waardenburg syndrome type 2A
c.*1270G>A Single submitter Waardenburg syndrome type 2A
c.*1491A>G Single submitter Tietz syndrome
c.*2029A>T Single submitter Tietz syndrome
c.*2170A>G Single submitter Tietz syndrome
c.*235T>C Single submitter Waardenburg syndrome type 2A
c.*24G>A Single submitter Tietz syndrome
c.*2673T>G Single submitter Waardenburg syndrome type 2A
c.*2868T>C Single submitter Tietz syndrome
c.*286G>A Single submitter Waardenburg syndrome type 2A
c.*2924C>T Single submitter Tietz syndrome
c.*3033A>G Single submitter Waardenburg syndrome type 2A
c.*379T>C Single submitter Waardenburg syndrome type 2A
c.*447C>A Single submitter Waardenburg syndrome type 2A
c.*824T>A Single submitter Tietz syndrome
c.*836G>T Single submitter Waardenburg syndrome type 2A

Benign/Likely benign 16

c.1031+31T>C Multiple submitters
c.104+23992G>T Multiple submitters
c.1180-11T>C Multiple submitters Waardenburg syndrome type 2A
c.355-1113C>T Multiple submitters Tietz syndrome
c.666+12C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
c.880+9C>G Multiple submitters Waardenburg syndrome type 2
c.*12T>C Multiple submitters Waardenburg syndrome type 2A
p.Glu394= Multiple submitters Tietz syndrome
p.Glu523= Multiple submitters Waardenburg syndrome type 2A
p.His122= Multiple submitters Tietz syndrome
p.Leu461Ile Multiple submitters coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
p.Leu481= Multiple submitters Tietz syndrome
p.Thr522= Multiple submitters Waardenburg syndrome type 2A
p.Thr525Ala Multiple submitters Tietz syndrome
p.Val427Ala Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
c.*1941A>G Single submitter Tietz syndrome

Likely benign 331

Showing the top 300 by review status; the full set is in the sitemap.

c.1032-19T>C Multiple submitters Tietz syndrome
c.1032-5C>T Multiple submitters Tietz syndrome
c.104+24216T>C Multiple submitters hereditary neoplastic syndrome
c.1179+94C>T Multiple submitters
c.1180-6T>C Multiple submitters Tietz syndrome
c.355-829A>G Multiple submitters
c.582+280C>T Multiple submitters
c.582+491G>A Multiple submitters
c.666+15G>C Multiple submitters Waardenburg syndrome type 2A
c.666+8A>G Multiple submitters Tietz syndrome
c.667-3C>T Multiple submitters Waardenburg syndrome type 2A
c.667-7C>T Multiple submitters Waardenburg syndrome type 2A
c.956-4G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
c.956-7C>A Multiple submitters Tietz syndrome
p.Ala218= Multiple submitters hereditary neoplastic syndrome
p.Ala294= Multiple submitters Tietz syndrome
p.Ala356= Multiple submitters hereditary neoplastic syndrome
p.Ala371= Multiple submitters hereditary neoplastic syndrome
p.Ala38= Multiple submitters
p.Ala467= Multiple submitters hereditary neoplastic syndrome
p.Ala82= Multiple submitters
p.Arg217= Multiple submitters Tietz syndrome
p.Arg310= Multiple submitters hereditary neoplastic syndrome
p.Arg370= Multiple submitters Tietz syndrome
p.Arg377= Multiple submitters hereditary neoplastic syndrome
p.Arg386= Multiple submitters Tietz syndrome
p.Arg420= Multiple submitters hereditary neoplastic syndrome
p.Arg513= Multiple submitters hereditary neoplastic syndrome
p.Arg514= Multiple submitters Tietz syndrome
p.Asn188= Multiple submitters Tietz syndrome
p.Asn267= Multiple submitters hereditary neoplastic syndrome
p.Asn460= Multiple submitters Tietz syndrome
p.Asn468= Multiple submitters Tietz syndrome
p.Asp246= Multiple submitters Tietz syndrome
p.Asp416= Multiple submitters hereditary neoplastic syndrome
p.Asp452= Multiple submitters hereditary neoplastic syndrome
p.Asp483= Multiple submitters hereditary neoplastic syndrome
p.Asp487= Multiple submitters Tietz syndrome
p.Asp488= Multiple submitters Tietz syndrome
p.Cys209= Multiple submitters Tietz syndrome
p.Gln135= Multiple submitters hereditary neoplastic syndrome
p.Gln138= Multiple submitters hereditary neoplastic syndrome
p.Gln141= Multiple submitters Tietz syndrome
p.Gln365= Multiple submitters Tietz syndrome
p.Gln368= Multiple submitters Tietz syndrome
p.Gln424= Multiple submitters hereditary neoplastic syndrome
p.Glu192= Multiple submitters hereditary neoplastic syndrome
p.Glu208= Multiple submitters Tietz syndrome
p.Glu208Gly Multiple submitters Waardenburg syndrome type 2A
p.Glu300= Multiple submitters Waardenburg syndrome type 2A
p.Glu333= Multiple submitters Tietz syndrome
p.Glu382= Multiple submitters Tietz syndrome
p.Gly165= Multiple submitters Tietz syndrome
p.Gly464= Multiple submitters hereditary neoplastic syndrome
p.His215= Multiple submitters hereditary neoplastic syndrome
p.His383= Multiple submitters Waardenburg syndrome type 2A
p.His402= Multiple submitters hereditary neoplastic syndrome
p.His439= Multiple submitters Tietz syndrome
p.Ile227= Multiple submitters hereditary neoplastic syndrome
p.Ile230= Multiple submitters hereditary neoplastic syndrome
p.Ile241= Multiple submitters hereditary neoplastic syndrome
p.Ile338= Multiple submitters hereditary neoplastic syndrome
p.Leu123= Multiple submitters hereditary neoplastic syndrome
p.Leu156= Multiple submitters hereditary neoplastic syndrome
p.Leu233= Multiple submitters Tietz syndrome
p.Leu337= Multiple submitters Tietz syndrome
p.Leu364= Multiple submitters hereditary neoplastic syndrome
p.Leu448= Multiple submitters hereditary neoplastic syndrome
p.Leu461= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Lys150= Multiple submitters Tietz syndrome
p.Lys350= Multiple submitters Tietz syndrome
p.Lys379= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Pro171= Multiple submitters hereditary neoplastic syndrome
p.Pro173= Multiple submitters Tietz syndrome
p.Pro256= Multiple submitters Tietz syndrome
p.Pro273= Multiple submitters hereditary neoplastic syndrome
p.Pro339= Multiple submitters hereditary neoplastic syndrome
p.Pro408= Multiple submitters hereditary neoplastic syndrome
p.Pro426= Multiple submitters hereditary neoplastic syndrome
p.Pro492= Multiple submitters hereditary neoplastic syndrome
p.Pro498= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Pro505= Multiple submitters Tietz syndrome
p.Ser176= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Ser219= Multiple submitters Tietz syndrome
p.Ser258= Multiple submitters Waardenburg syndrome type 2A
p.Ser357= Multiple submitters Tietz syndrome
p.Ser432= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Ser472= Multiple submitters hereditary neoplastic syndrome
p.Ser502= Multiple submitters Tietz syndrome
p.Ser504= Multiple submitters hereditary neoplastic syndrome
p.Thr186= Multiple submitters hereditary neoplastic syndrome
p.Thr276= Multiple submitters Tietz syndrome
p.Thr352= Multiple submitters Tietz syndrome
p.Thr443= Multiple submitters hereditary neoplastic syndrome
p.Thr454= Multiple submitters hereditary neoplastic syndrome
p.Thr456= Multiple submitters hereditary neoplastic syndrome
p.Tyr360= Multiple submitters hereditary neoplastic syndrome
p.Val358= Multiple submitters hereditary neoplastic syndrome
p.Val493= Multiple submitters hereditary neoplastic syndrome
c.1031+12C>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.1031+12C>T Single submitter Tietz syndrome
c.1031+13G>A Single submitter Tietz syndrome
c.1031+13G>T Single submitter Tietz syndrome
c.1031+17_1031+18del Single submitter Tietz syndrome
c.1031+199G>A Single submitter
c.1032-14C>A Single submitter Tietz syndrome
c.1032-14C>T Single submitter Tietz syndrome
c.1032-15C>G Single submitter Tietz syndrome
c.1032-16T>C Single submitter Tietz syndrome
c.1032-17C>G Single submitter Tietz syndrome
c.1032-18C>T Single submitter Tietz syndrome
c.1032-4G>C Single submitter Tietz syndrome
c.1032-4G>T Single submitter Tietz syndrome
c.1032-5C>G Single submitter Tietz syndrome
c.1032-7A>G Single submitter Tietz syndrome
c.104+24163C>T Single submitter
c.104+24230G>T Single submitter
c.104+244C>A Single submitter
c.104+68C>G Single submitter
c.105-12836C>T Single submitter
c.105-12G>A Single submitter
c.105-19C>T Single submitter
c.105-40T>C Single submitter
c.1179+10C>T Single submitter Tietz syndrome
c.1179+11T>C Single submitter Tietz syndrome
c.1179+12G>A Single submitter Tietz syndrome
c.1179+17G>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.1179+18T>C Single submitter Tietz syndrome
c.1179+19G>A Single submitter Tietz syndrome
c.1179+7A>G Single submitter Tietz syndrome
c.1180-10C>G Single submitter Tietz syndrome
c.1180-12C>T Single submitter Tietz syndrome
c.1180-14T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.1180-15T>G Single submitter Tietz syndrome
c.1180-17C>G Single submitter Tietz syndrome
c.1180-18T>C Single submitter Waardenburg syndrome type 2A
c.1180-20T>G Single submitter Tietz syndrome
c.1180-4A>G Single submitter Tietz syndrome
c.1180-5T>C Single submitter Tietz syndrome
c.1180-7A>G Single submitter Tietz syndrome
c.1180-7A>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.1180-8T>A Single submitter Tietz syndrome
c.1180-8T>C Single submitter Tietz syndrome
c.355-10_355-6del Single submitter Tietz syndrome
c.355-1048C>T Single submitter Tietz syndrome
c.355-1049T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.355-1050C>A Single submitter Tietz syndrome
c.355-1050C>T Single submitter Tietz syndrome
c.355-1052G>A Single submitter Waardenburg syndrome type 2A
c.355-1057A>T Single submitter Tietz syndrome
c.355-15C>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.355-15C>T Single submitter Tietz syndrome
c.355-18C>A Single submitter Tietz syndrome
c.355-18C>T Single submitter Tietz syndrome
c.355-5T>C Single submitter Tietz syndrome
c.355-6G>A Single submitter
c.355-7T>C Single submitter Tietz syndrome
c.582+10G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.582+11T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.582+11TCTCC[2] Single submitter Tietz syndrome
c.582+11TCTCC[4] Single submitter Tietz syndrome
c.582+14C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.582+17C>T Single submitter Tietz syndrome
c.582+19C>G Single submitter Waardenburg syndrome type 2A
c.582+20C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.582+288T>C Single submitter
c.582+7C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.582+8A>G Single submitter Tietz syndrome
c.582+8A>T Single submitter Tietz syndrome
c.582+9T>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.582+9T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.583-10G>T Single submitter Tietz syndrome
c.583-16G>C Single submitter Tietz syndrome
c.583-16G>T Single submitter Tietz syndrome
c.583-20T>A Single submitter Tietz syndrome
c.583-335A>G Single submitter
c.583-4G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.583-4G>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.583-7T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.666+119dup Single submitter
c.666+14T>C Single submitter Tietz syndrome
c.666+17C>G Single submitter
c.666+18A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.666+7A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.667-14C>T Single submitter
c.667-15C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.667-5T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.667-6C>A Single submitter Waardenburg syndrome type 2A
c.667-6C>T Single submitter Tietz syndrome
c.762+12del Single submitter Tietz syndrome
c.762+13T>C Single submitter Tietz syndrome
c.762+13T>G Single submitter Tietz syndrome
c.762+17T>C Single submitter Waardenburg syndrome type 2A
c.762+232C>T Single submitter
c.762+7A>T Single submitter Tietz syndrome
c.763-11TC[3] Single submitter Tietz syndrome
c.763-15T>C Single submitter Tietz syndrome
c.763-16G>A Single submitter Tietz syndrome
c.763-16G>C Single submitter Tietz syndrome
c.763-18C>A Single submitter Tietz syndrome
c.763-18C>T Single submitter Tietz syndrome
c.763-19A>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.763-4C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.763-50C>A Single submitter
c.880+11A>G Single submitter Tietz syndrome
c.880+14A>T Single submitter Tietz syndrome
c.880+19T>C Single submitter Tietz syndrome
c.880+20G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.880+7A>G Single submitter Tietz syndrome
c.880+8C>T Single submitter Waardenburg syndrome type 2A
c.881-12T>A Single submitter Tietz syndrome
c.881-15C>T Single submitter Tietz syndrome
c.881-18C>T Single submitter Tietz syndrome
c.881-20G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.881-253A>G Single submitter
c.881-275G>C Single submitter
c.881-7T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.881-8G>A Single submitter Tietz syndrome
c.955+10T>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.955+11T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.955+18A>G Single submitter Tietz syndrome
c.955+40A>T Single submitter
c.955+7T>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.955+8G>A Single submitter Waardenburg syndrome type 2A
c.955+9G>C Single submitter Tietz syndrome
c.956-13T>C Single submitter Waardenburg syndrome type 2A
c.956-16T>C Single submitter Waardenburg syndrome type 2A
c.956-17G>T Single submitter Waardenburg syndrome type 2A
c.956-18T>C Single submitter Tietz syndrome
c.956-209G>A Single submitter
c.956-265T>A Single submitter
c.956-4G>C Single submitter Tietz syndrome
c.956-5del Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.956-6T>G Single submitter Tietz syndrome
c.*2159dup Single submitter
p.Ala134= Single submitter hereditary neoplastic syndrome
p.Ala183= Single submitter Waardenburg syndrome type 2A
p.Ala283= Single submitter Tietz syndrome
p.Ala303= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Ala305= Single submitter Tietz syndrome
p.Ala384= Single submitter hereditary neoplastic syndrome
p.Arg136= Single submitter hereditary neoplastic syndrome
p.Arg290= Single submitter Tietz syndrome
p.Arg321= Single submitter hereditary neoplastic syndrome
p.Arg322= Single submitter hereditary neoplastic syndrome
p.Asn162= Single submitter Tietz syndrome
p.Asn279= Single submitter hereditary neoplastic syndrome
p.Asn317= Single submitter Waardenburg syndrome type 2A
p.Asn326= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Asn349= Single submitter hereditary neoplastic syndrome
p.Asn376= Single submitter hereditary neoplastic syndrome
p.Asn430= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Asn468Ser Single submitter hereditary neoplastic syndrome
p.Asn8= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Asp166= Single submitter hereditary neoplastic syndrome
p.Asp225= Single submitter Tietz syndrome
p.Asp228= Single submitter Tietz syndrome
p.Asp329= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Asp441= Single submitter Tietz syndrome
p.Cys526= Single submitter Tietz syndrome
p.Gln132= Single submitter hereditary neoplastic syndrome
p.Gln268= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Gln378= Single submitter hereditary neoplastic syndrome
p.Gln437= Single submitter Tietz syndrome
p.Glu115= Single submitter
p.Glu239= Single submitter hereditary neoplastic syndrome
p.Glu291= Single submitter hereditary neoplastic syndrome
p.Glu309= Single submitter Tietz syndrome
p.Glu320= Single submitter hereditary neoplastic syndrome
p.Glu367= Single submitter hereditary neoplastic syndrome
p.Glu373= Single submitter Tietz syndrome
p.Glu466= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Gly174= Single submitter hereditary neoplastic syndrome
p.Gly195= Single submitter hereditary neoplastic syndrome
p.Gly243= Single submitter Tietz syndrome
p.Gly274= Single submitter hereditary neoplastic syndrome
p.Gly335= Single submitter hereditary neoplastic syndrome
p.Gly403= Single submitter hereditary neoplastic syndrome
p.Gly453= Single submitter hereditary neoplastic syndrome
p.Gly506= Single submitter hereditary neoplastic syndrome
p.His167= Single submitter Tietz syndrome
p.Ile262= Single submitter hereditary neoplastic syndrome
p.Ile277= Single submitter hereditary neoplastic syndrome
p.Ile296= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Ile319= Single submitter Tietz syndrome
p.Ile407= Single submitter hereditary neoplastic syndrome
p.Leu244= Single submitter hereditary neoplastic syndrome
p.Leu261= Single submitter hereditary neoplastic syndrome
p.Leu275= Single submitter hereditary neoplastic syndrome
p.Leu292= Single submitter melanoma, cutaneous malignant, susceptibility to, 8
p.Leu306= Single submitter Waardenburg syndrome type 2A
p.Leu334= Single submitter Waardenburg syndrome type 2A
p.Leu389= Single submitter hereditary neoplastic syndrome
p.Leu406= Single submitter hereditary neoplastic syndrome
p.Leu450= Single submitter hereditary neoplastic syndrome
p.Leu490= Single submitter hereditary neoplastic syndrome
p.Leu5= Single submitter hereditary neoplastic syndrome
p.Lys313= Single submitter Tietz syndrome
p.Lys332= Single submitter hereditary neoplastic syndrome
p.Lys355= Single submitter Tietz syndrome

Uncertain significance 713

Showing the top 300 by review status; the full set is in the sitemap.

c.881-9C>G Multiple submitters renal cell carcinoma
c.*2753T>C Multiple submitters Waardenburg syndrome type 2A
c.*2G>A Multiple submitters
c.*556T>C Multiple submitters Tietz syndrome
p.Ala148Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala152Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala177Thr Multiple submitters Tietz syndrome ⚠
p.Ala183Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala205Thr Multiple submitters Tietz syndrome ⚠
p.Ala218Val Multiple submitters Tietz syndrome ⚠
p.Ala252Thr Multiple submitters Tietz syndrome ⚠
p.Ala294Glu Multiple submitters Waardenburg syndrome type 2A ⚠
p.Ala294Val Multiple submitters Waardenburg syndrome type 2A ⚠
p.Ala371Glu Multiple submitters Tietz syndrome ⚠
p.Ala371Thr Multiple submitters Waardenburg syndrome type 2A ⚠
p.Ala384Ser Multiple submitters Tietz syndrome ⚠
p.Ala399Thr Multiple submitters Tietz syndrome ⚠
p.Ala401Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala470Asp Multiple submitters Tietz syndrome ⚠
p.Arg136Gln Multiple submitters Tietz syndrome ⚠
p.Arg136Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg217Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg322Lys Multiple submitters Tietz syndrome ⚠
p.Arg330His Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Arg347His Multiple submitters Tietz syndrome ⚠
p.Arg362Gln Multiple submitters Tietz syndrome ⚠
p.Arg366Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg370Cys Multiple submitters Tietz syndrome ⚠
p.Arg370Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg377Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg386Gln Multiple submitters Tietz syndrome ⚠
p.Arg386Gly Multiple submitters Waardenburg syndrome type 2A ⚠
p.Arg400Gln Multiple submitters Tietz syndrome ⚠
p.Arg400Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg420Gln Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Arg420Trp Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Arg513Gln Multiple submitters Tietz syndrome ⚠
p.Arg514Lys Multiple submitters Tietz syndrome ⚠
p.Arg73Cys Multiple submitters Tietz syndrome ⚠
p.Arg73His Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Asn153Lys Multiple submitters Tietz syndrome ⚠
p.Asn162His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn162Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn188Lys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Asn279Ser Multiple submitters Tietz syndrome ⚠
p.Asn284Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn287Asp Multiple submitters coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ⚠
p.Asn287Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn342Asp Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Asn342Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn385Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn430Lys Multiple submitters Tietz syndrome ⚠
p.Asn430Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn458Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn459Asp Multiple submitters Tietz syndrome ⚠
p.Asp166Asn Multiple submitters Tietz syndrome ⚠
p.Asp224His Multiple submitters Tietz syndrome ⚠
p.Asp225Gly Multiple submitters Tietz syndrome ⚠
p.Asp228Asn Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Asp246Glu Multiple submitters Tietz syndrome ⚠
p.Asp246Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp246Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp263Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp329Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp416Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp416Val Multiple submitters Tietz syndrome ⚠
p.Asp441Asn Multiple submitters Tietz syndrome ⚠
p.Asp449Asn Multiple submitters Tietz syndrome ⚠
p.Asp452Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp452Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp488Asn Multiple submitters Tietz syndrome ⚠
p.Asp488Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys160Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys209Tyr Multiple submitters Tietz syndrome ⚠
p.Cys220Arg Multiple submitters Tietz syndrome ⚠
p.Cys295Tyr Multiple submitters MITF-related disorder ⚠
p.Cys444Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys444Phe Multiple submitters Tietz syndrome ⚠
p.Gln132Glu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Gln132Lys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Gln141Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln163Pro Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Gln268Arg Multiple submitters Tietz syndrome ⚠
p.Gln268Glu Multiple submitters Tietz syndrome ⚠
p.Gln268His Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Gln398Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln433Glu Multiple submitters Tietz syndrome ⚠
p.Gln437Arg Multiple submitters Tietz syndrome ⚠
p.Glu124Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu124Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu208Lys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Glu333Lys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Glu367Gln Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Glu373Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu394Asp Multiple submitters coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ⚠
p.Glu429Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu466Gln Multiple submitters Tietz syndrome ⚠
p.Glu520Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu520Lys Multiple submitters Tietz syndrome
p.Glu6Gly Multiple submitters Tietz syndrome
p.Gly165Arg Multiple submitters Tietz syndrome ⚠
p.Gly165Val Multiple submitters Tietz syndrome ⚠
p.Gly174Arg Multiple submitters MITF-related disorder ⚠
p.Gly243Ser Multiple submitters Tietz syndrome ⚠
p.Gly259Glu Multiple submitters Tietz syndrome ⚠
p.Gly269Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly269Val Multiple submitters Tietz syndrome ⚠
p.Gly274Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly403Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly462Glu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Gly478Ala Multiple submitters Waardenburg syndrome type 2A ⚠
p.Gly478Glu Multiple submitters Tietz syndrome ⚠
p.Gly494Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly506Arg Multiple submitters Tietz syndrome
p.His151Pro Multiple submitters Tietz syndrome ⚠
p.His151Tyr Multiple submitters Waardenburg syndrome type 2A ⚠
p.His215Arg Multiple submitters Tietz syndrome ⚠
p.His215Gln Multiple submitters Tietz syndrome ⚠
p.His387Tyr Multiple submitters Waardenburg syndrome type 2A ⚠
p.His402Pro Multiple submitters Tietz syndrome ⚠
p.His438Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His439Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His524Asn Multiple submitters Tietz syndrome ⚠
p.His524Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His9Gln Multiple submitters hereditary neoplastic syndrome
p.His9Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Ile241Val Multiple submitters Tietz syndrome ⚠
p.Ile277Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile288Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile392Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile422Thr Multiple submitters Tietz syndrome ⚠
p.Ile455Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu143Ile Multiple submitters Tietz syndrome ⚠
p.Leu242Phe Multiple submitters Tietz syndrome ⚠
p.Leu244Phe Multiple submitters Tietz syndrome ⚠
p.Leu255Ser Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Leu275Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Leu275Val Multiple submitters Tietz syndrome ⚠
p.Leu334Pro Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Leu404Phe Multiple submitters Tietz syndrome
p.Leu404Pro Multiple submitters Waardenburg syndrome type 2A ⚠
p.Leu406Phe Multiple submitters Tietz syndrome ⚠
p.Leu417Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu436Arg Multiple submitters Tietz syndrome ⚠
p.Leu436Phe Multiple submitters Tietz syndrome ⚠
p.Leu448Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu450Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Leu485Pro Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Lys140Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys150Asn Multiple submitters MITF-related disorder ⚠
p.Lys198Asn Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Lys198Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys423Glu Multiple submitters Tietz syndrome ⚠
p.Lys423Met Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Lys476Glu Multiple submitters Tietz syndrome ⚠
p.Lys480Asn Multiple submitters Tietz syndrome ⚠
p.Lys509Arg Multiple submitters Tietz syndrome ⚠
p.Met169Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met182Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met182Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met184Leu Multiple submitters Tietz syndrome ⚠
p.Met184Thr Multiple submitters Tietz syndrome ⚠
p.Met221Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met223Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met346Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Met397Thr Multiple submitters Tietz syndrome ⚠
p.Met397Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met477Ile Multiple submitters Tietz syndrome ⚠
p.Met486Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe199Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe297Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro159Ser Multiple submitters Tietz syndrome ⚠
p.Pro159Thr Multiple submitters Tietz syndrome ⚠
p.Pro164Ser Multiple submitters Waardenburg syndrome type 2A ⚠
p.Pro170Thr Multiple submitters Waardenburg syndrome type 2A ⚠
p.Pro171Leu Multiple submitters Tietz syndrome ⚠
p.Pro173Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Pro256Thr Multiple submitters Tietz syndrome ⚠
p.Pro272Arg Multiple submitters Tietz syndrome ⚠
p.Pro272Leu Multiple submitters Tietz syndrome ⚠
p.Pro273Ala Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Pro273Gln Multiple submitters Waardenburg syndrome type 2A ⚠
p.Pro286Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro298Ser Multiple submitters Tietz syndrome ⚠
p.Pro344Leu Multiple submitters Waardenburg syndrome type 2A ⚠
p.Pro415Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro415Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro426His Multiple submitters Waardenburg syndrome type 2A ⚠
p.Pro426Ser Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Pro492Ser Multiple submitters Waardenburg syndrome type 2A ⚠
p.Pro498Ala Multiple submitters Tietz syndrome
p.Pro498Leu Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Ser157Asn Multiple submitters Tietz syndrome ⚠
p.Ser207Asn Multiple submitters Tietz syndrome ⚠
p.Ser235Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser236Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser236Cys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Ser258Leu Multiple submitters Tietz syndrome ⚠
p.Ser278Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser301Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser405Pro Multiple submitters Tietz syndrome ⚠
p.Ser414Tyr Multiple submitters Tietz syndrome ⚠
p.Ser432Ile Multiple submitters Tietz syndrome ⚠
p.Ser501Phe Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Ser501Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser511Gly Multiple submitters hereditary neoplastic syndrome
p.Ser512del Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8
p.Ser515Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser516Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr145Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr186Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr214Lys Multiple submitters Tietz syndrome ⚠
p.Thr214Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr254= Multiple submitters Tietz syndrome
p.Thr254Met Multiple submitters Tietz syndrome ⚠
p.Thr336Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr336Ile Multiple submitters Tietz syndrome ⚠
p.Thr410Met Multiple submitters Tietz syndrome ⚠
p.Thr443Asn Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Thr446Ala Multiple submitters Waardenburg syndrome type 2A ⚠
p.Thr451Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr451Met Multiple submitters Waardenburg syndrome type 2A ⚠
p.Thr454Ala Multiple submitters Waardenburg syndrome type 2A ⚠
p.Thr463Ile Multiple submitters Tietz syndrome ⚠
p.Thr463Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr475Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr489Ile Multiple submitters hereditary neoplastic syndrome
p.Thr489Ser Multiple submitters Waardenburg syndrome type 2A ⚠
p.Thr496Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr522Met Multiple submitters Waardenburg syndrome type 2A ⚠
p.Tyr10Ser Multiple submitters hereditary neoplastic syndrome
p.Tyr197Asp Multiple submitters Waardenburg syndrome type 2A ⚠
p.Tyr197Cys Multiple submitters Waardenburg syndrome type 2A ⚠
p.Tyr471Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr7His Multiple submitters Tietz syndrome
p.Val139Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 8 ⚠
p.Val155Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val257Asp Multiple submitters Waardenburg syndrome type 2A ⚠
p.Val257Ile Multiple submitters Tietz syndrome ⚠
p.Val493Ile Multiple submitters Waardenburg syndrome type 2A ⚠
p.Val493Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val503Met Multiple submitters hereditary neoplastic syndrome ⚠
c.1031+5G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.1031+6T>C Single submitter MITF-related disorder
c.1031+6T>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.1032-3C>T Single submitter Tietz syndrome
c.104+24178G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.104+24188C>G Single submitter Tietz syndrome
c.104+24210A>G Single submitter MITF-related disorder
c.104+24240del Single submitter
c.104+54793C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.104+54808T>C Single submitter MITF-related disorder
c.105-12789C>T Single submitter
c.1179+3A>G Single submitter Tietz syndrome
c.1180-30_1180-5del Single submitter
c.33_33+6del Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.33+2T>C Single submitter Waardenburg syndrome type 2A
c.355-3C>G Single submitter Tietz syndrome
c.583-11T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.583-14_583-3del Single submitter Waardenburg syndrome type 2A
c.583-14_583-5del Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.583-14T>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.583-3C>A Single submitter
c.583-3C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.666+5T>G Single submitter Tietz syndrome
c.762+4T>C Single submitter Tietz syndrome
c.762+6G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.880+3A>G Single submitter Tietz syndrome
c.880+5A>G Single submitter Tietz syndrome
c.880+6C>G Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.881-6G>T Single submitter
c.955+3A>T Single submitter melanoma, cutaneous malignant, susceptibility to, 8
c.955+6T>C Single submitter Tietz syndrome
c.956-5T>A Single submitter
c.*1120C>A Single submitter Waardenburg syndrome type 2A
c.*115C>T Single submitter Waardenburg syndrome type 2A
c.*1380A>G Single submitter Tietz syndrome
c.*1502A>T Single submitter Tietz syndrome
c.*1666T>G Single submitter Tietz syndrome
c.*1770C>T Single submitter Tietz syndrome
c.*1869G>T Single submitter Tietz syndrome
c.*1893C>T Single submitter Tietz syndrome
c.*1933C>T Single submitter Tietz syndrome
c.*1934G>T Single submitter Tietz syndrome
c.*1C>A Single submitter
c.*1C>T Single submitter
c.*2077G>T Single submitter Tietz syndrome
c.*2079A>C Single submitter Tietz syndrome
c.*2140T>C Single submitter Waardenburg syndrome type 2A
c.*2160A>G Single submitter Tietz syndrome
c.*2275G>A Single submitter Tietz syndrome
c.*2294A>G Single submitter Tietz syndrome
c.*23C>T Single submitter Waardenburg syndrome type 2A
c.*2552A>G Single submitter Tietz syndrome
c.*2588G>A Single submitter Tietz syndrome
c.*2632C>T Single submitter Tietz syndrome
c.*2807G>A Single submitter Tietz syndrome
c.*2831A>G Single submitter Tietz syndrome
c.*2881C>T Single submitter Tietz syndrome
c.*2892C>T Single submitter Tietz syndrome