TERT — 3058 ClinVar variants

Pathogenic 80

• p.Arg196fs Multiple submitters dyskeratosis congenita
• p.Arg230Ter Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg631Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Gln775Ter Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Glu200Ter Multiple submitters dyskeratosis congenita
• p.Ile1036_Ser1037insTer Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu392fs Multiple submitters dyskeratosis congenita
• p.Pro308fs Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala357fs Single submitter idiopathic pulmonary fibrosis
• p.Ala918fs Single submitter idiopathic pulmonary fibrosis
• p.Arg194Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Arg381fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Arg416Ter Single submitter idiopathic pulmonary fibrosis
• p.Arg485fs Single submitter idiopathic pulmonary fibrosis
• p.Arg515fs Single submitter dyskeratosis congenita
• p.Asn571fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Asp685del Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Asp848fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Cys271fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Gln1071Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Gln169Ter Single submitter idiopathic pulmonary fibrosis
• p.Gln253Ter Single submitter idiopathic pulmonary fibrosis
• p.Gln460fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Gln700Ter Single submitter idiopathic pulmonary fibrosis
• p.Gln794Ter Single submitter idiopathic pulmonary fibrosis
• p.Glu245fs Single submitter idiopathic pulmonary fibrosis
• p.Glu439fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Glu484Asp Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu484Ter Single submitter idiopathic pulmonary fibrosis
• p.Glu538Ter Single submitter idiopathic pulmonary fibrosis
• p.Glu611Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Glu850fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Gly110fs Single submitter idiopathic pulmonary fibrosis
• p.Gly424fs Single submitter dyskeratosis congenita
• p.His205fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu1079fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu350fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu616fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu877fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu88fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Lys570Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Lys902Ter Single submitter idiopathic pulmonary fibrosis
• p.Lys981fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Phe975fs Single submitter idiopathic pulmonary fibrosis
• p.Pro164fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Pro475fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Pro625fs Single submitter idiopathic pulmonary fibrosis
• p.Ser309fs Single submitter idiopathic pulmonary fibrosis
• p.Ser602Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Thr1030fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Thr375fs Single submitter idiopathic pulmonary fibrosis
• p.Thr491fs Single submitter idiopathic pulmonary fibrosis
• p.Thr937fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Trp256Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Trp317Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Trp459fs Single submitter dyskeratosis congenita
• p.Trp478Ter Single submitter interstitial lung disease 2
• p.Trp581Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Trp930Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Tyr333fs Single submitter idiopathic pulmonary fibrosis
• p.Tyr386fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Tyr405fs Single submitter dyskeratosis congenita
• p.Tyr562fs Single submitter idiopathic pulmonary fibrosis
• p.Tyr667Ter Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Tyr772fs Single submitter idiopathic pulmonary fibrosis
• p.Val1025fs Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Val324fs Single submitter idiopathic pulmonary fibrosis
• p.Val747fs Single submitter pulmonary fibrosis
• c.2583-2A>C No assertion criteria pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• c.*6_*182del No assertion criteria interstitial lung disease 2
• p.Glu113fs No assertion criteria hepatocellular carcinoma
• p.Glu429Ter No assertion criteria dyskeratosis congenita, autosomal dominant 2
• p.Glu668Asp No assertion criteria hepatocellular carcinoma
• p.Leu97fs No assertion criteria telomere syndrome
• p.Lys570Asn No assertion criteria dyskeratosis congenita, autosomal dominant 1
• p.Lys902Arg No assertion criteria pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Lys902Asn No assertion criteria dyskeratosis congenita, autosomal dominant 2
• p.Pro908Leu No assertion criteria dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ser947Pro No assertion criteria dyskeratosis congenita
• p.Val1025Phe No assertion criteria dyskeratosis congenita, autosomal dominant 2

Pathogenic/Likely pathogenic 14

• p.Ala716Thr Multiple submitters idiopathic pulmonary fibrosis
• p.Ala716Val Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala880Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg631Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg671Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg774Ter Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg821fs Multiple submitters idiopathic pulmonary fibrosis
• p.Arg865His Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Arg938Trp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Cys998fs Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Gly1063Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Pro704Ser Multiple submitters TERT-related disorder ⚠
• p.Val867Met Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• c.2583-2A>T Single submitter pulmonary fibrosis

Likely pathogenic 49

• c.2130+1G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2131-2A>G Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• c.2286+1G>A Multiple submitters idiopathic pulmonary fibrosis
• c.3157+1G>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala1009Val Multiple submitters idiopathic pulmonary fibrosis
• p.Thr116Ile Multiple submitters interstitial lung disease
• p.Thr567Met Multiple submitters idiopathic pulmonary fibrosis ⚠
• c.1573+2T>A Single submitter dyskeratosis congenita, autosomal dominant 2
• c.(?_1574 Single submitter dyskeratosis congenita
• c.1574-1G>A Single submitter idiopathic pulmonary fibrosis
• c.1574-1G>C Single submitter idiopathic pulmonary fibrosis
• c.1769+2T>C Single submitter dyskeratosis congenita, autosomal dominant 2
• c.1770-2A>G Single submitter dyskeratosis congenita
• c.1951-2A>C Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2130+1G>C Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2130+2T>G Single submitter idiopathic pulmonary fibrosis
• c.2263_2286+26delinsATC Single submitter dyskeratosis congenita
• c.2286+1G>T Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2382+1G>C Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2382+1G>T Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2382+235_2453del Single submitter idiopathic pulmonary fibrosis
• c.2654+1G>C Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2970+1G>A Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2970+2T>G Single submitter dyskeratosis congenita, autosomal dominant 2
• c.3032+1G>C Single submitter idiopathic pulmonary fibrosis
• c.3033-2A>C Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• c.3158-1G>C Single submitter dyskeratosis congenita, autosomal dominant 2
• c.3158-2A>C Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Ala1040Thr Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ala130Val Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala716Gly Single submitter
• p.Arg865Leu Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Arg889Ter Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Asp685Asn Single submitter idiopathic pulmonary fibrosis ⚠
• p.Asp868Gly Single submitter
• p.Gly110Val Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His534Arg Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Ile540Met Single submitter acute myeloid leukemia ⚠
• p.Ile686Met Single submitter dyskeratosis congenita ⚠
• p.Leu175fs Single submitter
• p.Leu841Phe Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Leu927Arg Single submitter developmental and epileptic encephalopathy, 18 ⚠
• p.Leu974Arg Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Phe809fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Phe883Cys Single submitter dyskeratosis congenita
• p.Pro404fs Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Pro702Arg Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Thr128Ile Single submitter ⚠
• p.Tyr772His Single submitter ⚠

Conflicting classifications of pathogenicity 224

• c.1770-7A>G Single submitter dyskeratosis congenita
• c.1951-5G>A Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2130+10G>A Single submitter idiopathic pulmonary fibrosis
• c.2131-16G>A Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2131-5C>A Single submitter idiopathic pulmonary fibrosis
• c.2287-5G>A Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2383-5C>G Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2383-5C>T Single submitter dyskeratosis congenita
• c.2469-9C>T Single submitter idiopathic pulmonary fibrosis
• c.2654+10G>A Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2844-11_2844-10del Single submitter idiopathic pulmonary fibrosis
• c.2844-12C>A Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2844-12C>T Single submitter idiopathic pulmonary fibrosis
• c.2971-10G>T Single submitter idiopathic pulmonary fibrosis
• c.2971-14C>T Single submitter acute myeloid leukemia
• c.2971-4_2971-3del Single submitter dyskeratosis congenita
• c.3033-13G>A Single submitter idiopathic pulmonary fibrosis
• c.3158-5C>T Single submitter dyskeratosis congenita, autosomal dominant 2
• c.3296-5C>T Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Ala1062Thr Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ala184Thr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala190Val Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala202Thr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala221= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Ala288Val Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala326Thr Single submitter dyskeratosis congenita ⚠
• p.Ala467= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Ala518Ser Single submitter dyskeratosis congenita ⚠
• p.Ala532Thr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala612Thr Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ala615Thr Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ala670Val Single submitter dyskeratosis congenita ⚠
• p.Ala750Thr Single submitter dyskeratosis congenita ⚠
• p.Ala751Thr Single submitter dyskeratosis congenita ⚠
• p.Ala758Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Ala817Thr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala880Val Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Ala98Asp Single submitter dyskeratosis congenita ⚠
• p.Arg1084Gln Single submitter dyskeratosis congenita ⚠
• p.Arg1086His Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg120Pro Single submitter dyskeratosis congenita ⚠
• p.Arg185Leu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg185Trp Single submitter dyskeratosis congenita ⚠
• p.Arg208Ser Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg230= Single submitter dyskeratosis congenita
• p.Arg240His Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg268Cys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg268His Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg301Leu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg315Ser Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg342Gln Single submitter dyskeratosis congenita ⚠
• p.Arg446Ser Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg447Cys Single submitter dyskeratosis congenita ⚠
• p.Arg470His Single submitter TERT-related disorder ⚠
• p.Arg486Cys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg515Gln Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg522Lys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg577Trp Single submitter dyskeratosis congenita ⚠
• p.Arg595Lys Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg610Gln Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg610Trp Single submitter dyskeratosis congenita ⚠
• p.Arg622Cys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg646Cys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg646His Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg650Lys Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg653Cys Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg669Trp Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg671Gln Single submitter acute myeloid leukemia ⚠
• p.Arg671Gly Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg672His Single submitter dyskeratosis congenita ⚠
• p.Arg698Trp Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg742His Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg743Gln Single submitter dyskeratosis congenita ⚠
• p.Arg743Trp Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg811Cys Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Arg811His Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg819Cys Single submitter dyskeratosis congenita ⚠
• p.Arg858Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg859Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg865Cys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Arg889Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg901Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg901Trp Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg938Gln Single submitter TERT-related disorder ⚠
• p.Arg951= Single submitter idiopathic pulmonary fibrosis
• p.Arg951Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg951Trp Single submitter dyskeratosis congenita ⚠
• p.Arg962= Single submitter aplastic anemia
• p.Arg962Cys Single submitter dyskeratosis congenita ⚠
• p.Arg962His Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg971His Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg979Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg979Trp Single submitter idiopathic pulmonary fibrosis ⚠
• p.Asn635= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Asp444Gly Single submitter idiopathic pulmonary fibrosis ⚠
• p.Asp684Gly Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp807Asn Single submitter idiopathic pulmonary fibrosis ⚠
• p.Asp860= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Gln1071Arg Single submitter idiopathic pulmonary fibrosis ⚠
• p.Gln302Arg Single submitter idiopathic pulmonary fibrosis ⚠
• p.Gln460= Single submitter dyskeratosis congenita
• p.Gln608His Single submitter idiopathic pulmonary fibrosis ⚠
• p.Glu1116Lys Single submitter dyskeratosis congenita ⚠
• p.Glu113= Single submitter dyskeratosis congenita
• p.Glu280Lys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Glu441Asp Single submitter idiopathic pulmonary fibrosis ⚠
• p.Glu441del Single submitter acute myeloid leukemia
• p.Glu484Gln Single submitter dyskeratosis congenita ⚠
• p.Glu484Lys Single submitter dyskeratosis congenita ⚠
• p.Glu652Lys Single submitter dyskeratosis congenita ⚠
• p.Glu705Lys Single submitter idiopathic pulmonary fibrosis ⚠
• p.Glu782Asp Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly110Ala Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly215= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Gly225Arg Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly254Ala Single submitter idiopathic pulmonary fibrosis ⚠
• p.Gly260Asp Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly398Arg Single submitter idiopathic pulmonary fibrosis ⚠
• p.Gly527Val Single submitter idiopathic pulmonary fibrosis ⚠
• p.Gly674Ser Single submitter dyskeratosis congenita ⚠
• p.Gly822Asp Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly856= Single submitter dyskeratosis congenita
• p.Gly890Asp Single submitter dyskeratosis congenita ⚠
• p.Gly915Asp Single submitter melanoma, cutaneous malignant, susceptibility to, 9 ⚠
• p.Gly916Ser Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly926Ser Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly963Ser Single submitter idiopathic pulmonary fibrosis ⚠
• p.His189Arg Single submitter dyskeratosis congenita ⚠
• p.His296Pro Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.His412Tyr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His455Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.His752Arg Single submitter idiopathic pulmonary fibrosis ⚠
• p.His762= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.His879Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His983Tyr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ile1001Val Single submitter dyskeratosis congenita ⚠
• p.Ile495Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ile729= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Ile729Val Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Leu141Val Single submitter dyskeratosis congenita ⚠
• p.Leu152= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu232= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu234Phe Single submitter dyskeratosis congenita ⚠
• p.Leu394Gln Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Leu488Phe Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Leu50= Single submitter idiopathic pulmonary fibrosis
• p.Leu573= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Leu841= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Leu864Pro Single submitter idiopathic pulmonary fibrosis ⚠
• p.Leu884= Single submitter idiopathic pulmonary fibrosis
• p.Lys1050Asn Single submitter aplastic anemia ⚠
• p.Lys338Arg Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Met773Thr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Met922Leu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Met970Leu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Phe975Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.Pro1108Leu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Pro193Thr Single submitter idiopathic pulmonary fibrosis ⚠
• p.Pro246Leu Single submitter dyskeratosis congenita ⚠
• p.Pro259Leu Single submitter dyskeratosis congenita ⚠
• p.Pro322Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.Pro431Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.Pro445Arg Single submitter dyskeratosis congenita ⚠
• p.Pro524Ala Single submitter dyskeratosis congenita ⚠
• p.Pro702Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.Pro703Leu Single submitter dyskeratosis congenita ⚠
• p.Pro771Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.Pro785Ala Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Pro785Ser Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Pro923Leu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ser1055Leu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ser1104Cys Single submitter dyskeratosis congenita ⚠
• p.Ser1125Ala Single submitter dyskeratosis congenita ⚠
• p.Ser191Thr Single submitter dyskeratosis congenita ⚠
• p.Ser229Asn Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ser274Thr Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ser298Thr Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ser335del Single submitter idiopathic pulmonary fibrosis
• p.Ser348Asn Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ser480Pro Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ser579Arg Single submitter idiopathic pulmonary fibrosis ⚠
• p.Ser797= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Ter1133Trp Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Thr1030Arg Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Thr1039Met Single submitter dyskeratosis congenita ⚠
• p.Thr1101Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Thr1110Ala Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Thr26Met Single submitter idiopathic pulmonary fibrosis ⚠
• p.Thr509Met Single submitter dyskeratosis congenita ⚠
• p.Thr564= Single submitter idiopathic pulmonary fibrosis
• p.Thr618Ala Single submitter idiopathic pulmonary fibrosis ⚠
• p.Thr618Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Thr644Met Single submitter dyskeratosis congenita ⚠
• p.Thr692Ala Single submitter idiopathic pulmonary fibrosis ⚠
• p.Thr714Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Thr726Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Thr882= Single submitter dyskeratosis congenita
• p.Thr917Met Single submitter dyskeratosis congenita ⚠
• p.Tyr1089= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Tyr638= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Tyr667= Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Val1016= Single submitter dyskeratosis congenita
• p.Val1035= Single submitter idiopathic pulmonary fibrosis
• p.Val1035Ile Single submitter dyskeratosis congenita ⚠
• p.Val144Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val148= Single submitter dyskeratosis congenita
• p.Val170Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val251Ile Single submitter dyskeratosis congenita ⚠
• p.Val299Met Single submitter interstitial lung disease 2 ⚠
• p.Val461Leu Single submitter Inherited Immunodeficiency Diseases ⚠
• p.Val465Leu Single submitter idiopathic pulmonary fibrosis ⚠
• p.Val473= Single submitter idiopathic pulmonary fibrosis
• p.Val639= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Val658= Single submitter dyskeratosis congenita, autosomal dominant 2
• p.Val664Leu Single submitter Myelodysplasia ⚠
• p.Val694Glu Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val694Met Single submitter TERT-related disorder ⚠
• p.Val741Met Single submitter melanoma, cutaneous malignant, susceptibility to, 9 ⚠
• p.Val755Ile Single submitter dyskeratosis congenita ⚠
• p.Val777Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val790Ile Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val791Ile Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val897Met Single submitter dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val997= Single submitter dyskeratosis congenita, autosomal dominant 2

Benign 51

• c.1573+39G>C Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• c.1769+225G>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.1770-24C>T Multiple submitters
• c.1950+10C>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.1950+145A>G Multiple submitters
• c.1950+15G>A Multiple submitters idiopathic pulmonary fibrosis
• c.1950+245C>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.1951-205G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.1951-42C>T Multiple submitters
• c.2286+172G>A Multiple submitters
• c.2383-205A>G Multiple submitters
• c.2469-99T>G Multiple submitters
• c.2582+171T>C Multiple submitters
• c.2582+55G>A Multiple submitters
• c.2654+269T>C Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.3033-96A>G Multiple submitters
• c.3295+32A>G Multiple submitters
• c.*99C>T Multiple submitters aplastic anemia
• p.Ala279Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala699= Multiple submitters dyskeratosis congenita
• p.Gly677= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His1013= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Pro1108= Multiple submitters idiopathic pulmonary fibrosis
• p.Pro380Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Val553= Multiple submitters idiopathic pulmonary fibrosis
• c.1574-3235G>T Single submitter dyskeratosis congenita, autosomal dominant 2
• c.1574-3777G>T Single submitter idiopathic pulmonary fibrosis
• c.1769+130C>T Single submitter
• c.1769+13del Single submitter dyskeratosis congenita, autosomal dominant 2
• c.1769+325dup Single submitter
• c.1769+350G>A Single submitter
• c.1769+379A>G Single submitter
• c.1769+385A>G Single submitter
• c.1770-14dup Single submitter dyskeratosis congenita, autosomal dominant 2
• c.1950+251A>G Single submitter
• c.1951-6del Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2130+182A>C Single submitter
• c.2286+186TG[8] Single submitter
• c.2383-342A>G Single submitter
• c.2468+251G>C Single submitter
• c.2469-196A>T Single submitter
• c.2469-258A>G Single submitter
• c.2583-279G>C Single submitter
• c.2844-11dup Single submitter dyskeratosis congenita, autosomal dominant 2
• c.2844-337C>T Single submitter
• c.3032+152_3032+153dup Single submitter
• c.3158-323G>A Single submitter
• c.3158-3del Single submitter idiopathic pulmonary fibrosis
• c.3295+232G>A Single submitter
• c.3295+236G>C Single submitter
• c.*153C>T Single submitter pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Benign/Likely benign 15

• c.1574-16G>C Multiple submitters idiopathic pulmonary fibrosis
• c.1574-7G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2383-15C>T Multiple submitters aplastic anemia
• c.2582+11C>T Multiple submitters acute myeloid leukemia
• c.2582+7C>A Multiple submitters idiopathic pulmonary fibrosis
• c.*63C>T Multiple submitters aplastic anemia
• p.Ala1062= Multiple submitters dyskeratosis congenita
• p.Ala243= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 9
• p.Ala604= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg595= Multiple submitters dyskeratosis congenita
• p.Asp43= Multiple submitters dyskeratosis congenita
• p.Asp628= Multiple submitters dyskeratosis congenita
• p.His925= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Leu769= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Phe464= Multiple submitters dyskeratosis congenita, autosomal dominant 2

Likely benign 1142

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

• c.1574-298T>G Multiple submitters
• c.1769+16G>A Multiple submitters idiopathic pulmonary fibrosis
• c.1950+21C>T Multiple submitters
• c.1951-228T>G Multiple submitters
• c.2130+20G>A Multiple submitters idiopathic pulmonary fibrosis
• c.2286+12G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2382+20G>C Multiple submitters idiopathic pulmonary fibrosis
• c.2383-4G>A Multiple submitters dyskeratosis congenita
• c.2469-7G>A Multiple submitters idiopathic pulmonary fibrosis
• c.2843+7G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2970+128C>T Multiple submitters
• c.2970+140T>C Multiple submitters
• c.2970+258A>G Multiple submitters
• c.2971-200T>C Multiple submitters
• c.3032+19G>A Multiple submitters idiopathic pulmonary fibrosis
• c.3032+7C>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.3296-4G>A Multiple submitters dyskeratosis congenita
• p.Ala1009= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala1014= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala102= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala1040= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala1061= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala1069= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala1114= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala1117= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala136= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala154= Multiple submitters dyskeratosis congenita
• p.Ala157= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala167= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala180= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala181= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala184= Multiple submitters dyskeratosis congenita
• p.Ala228= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala25= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala279= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala282= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala288= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala326= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala357= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala4= Multiple submitters dyskeratosis congenita
• p.Ala401= Multiple submitters dyskeratosis congenita
• p.Ala418= Multiple submitters dyskeratosis congenita
• p.Ala436= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala437= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala49= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala518= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala531= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala642= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala670= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala678= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala730= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala745= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala789= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala855= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala880= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala9= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala924= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala956= Multiple submitters idiopathic pulmonary fibrosis
• p.Ala98= Multiple submitters dyskeratosis congenita
• p.Arg1011= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg1034= Multiple submitters dyskeratosis congenita
• p.Arg1084= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg11= Multiple submitters dyskeratosis congenita
• p.Arg1105= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg120= Multiple submitters dyskeratosis congenita
• p.Arg132= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg142= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg185= Multiple submitters dyskeratosis congenita
• p.Arg195= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg201= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg222= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg223= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg224= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg261= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg30= Multiple submitters dyskeratosis congenita
• p.Arg312= Multiple submitters dyskeratosis congenita
• p.Arg342= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg359= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg369= Multiple submitters dyskeratosis congenita
• p.Arg377= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg381= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg385= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg390= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg428= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg453= Multiple submitters dyskeratosis congenita
• p.Arg466= Multiple submitters dyskeratosis congenita
• p.Arg481= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg485= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg486= Multiple submitters dyskeratosis congenita
• p.Arg489= Multiple submitters dyskeratosis congenita
• p.Arg515= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg521= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg522= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg572= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg577= Multiple submitters dyskeratosis congenita
• p.Arg590= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg599= Multiple submitters dyskeratosis congenita
• p.Arg607= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg631= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg647= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg653His Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg657= Multiple submitters idiopathic pulmonary fibrosis
• p.Arg669= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg671= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg691= Multiple submitters dyskeratosis congenita
• p.Arg8= Multiple submitters dyskeratosis congenita
• p.Arg811= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg885= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Arg901= Multiple submitters dyskeratosis congenita
• p.Arg938= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asn1000= Multiple submitters dyskeratosis congenita
• p.Asn1051= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asn125= Multiple submitters acute myeloid leukemia
• p.Asn483= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asn571= Multiple submitters idiopathic pulmonary fibrosis
• p.Asn666= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asn737= Multiple submitters dyskeratosis congenita
• p.Asn851= Multiple submitters dyskeratosis congenita
• p.Asn95= Multiple submitters idiopathic pulmonary fibrosis
• p.Asn992= Multiple submitters idiopathic pulmonary fibrosis
• p.Asp1038= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asp105= Multiple submitters dyskeratosis congenita
• p.Asp1126= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asp146= Multiple submitters idiopathic pulmonary fibrosis
• p.Asp147= Multiple submitters dyskeratosis congenita
• p.Asp267= Multiple submitters dyskeratosis congenita
• p.Asp444= Multiple submitters dyskeratosis congenita
• p.Asp684= Multiple submitters idiopathic pulmonary fibrosis
• p.Asp701= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asp712= Multiple submitters dyskeratosis congenita
• p.Asp718= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asp723= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asp807= Multiple submitters idiopathic pulmonary fibrosis
• p.Asp848= Multiple submitters dyskeratosis congenita
• p.Asp868= Multiple submitters dyskeratosis congenita
• p.Asp911= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Asp945= Multiple submitters idiopathic pulmonary fibrosis
• p.Cys1015= Multiple submitters idiopathic pulmonary fibrosis
• p.Cys1074= Multiple submitters idiopathic pulmonary fibrosis
• p.Cys156= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Cys166= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Cys199= Multiple submitters dyskeratosis congenita
• p.Cys403= Multiple submitters idiopathic pulmonary fibrosis
• p.Cys426= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Cys468= Multiple submitters dyskeratosis congenita
• p.Cys7= Multiple submitters idiopathic pulmonary fibrosis
• p.Cys740= Multiple submitters dyskeratosis congenita
• p.Cys845= Multiple submitters dyskeratosis congenita
• p.Cys89= Multiple submitters idiopathic pulmonary fibrosis
• p.Cys896= Multiple submitters idiopathic pulmonary fibrosis
• p.Cys931= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Cys982= Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
• p.Gln388= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gln432= Multiple submitters dyskeratosis congenita
• p.Gln569= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gln591= Multiple submitters dyskeratosis congenita
• p.Gln597= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gln827= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Glu280= Multiple submitters idiopathic pulmonary fibrosis
• p.Glu429= Multiple submitters idiopathic pulmonary fibrosis
• p.Glu440= Multiple submitters idiopathic pulmonary fibrosis
• p.Glu507= Multiple submitters dyskeratosis congenita
• p.Glu555= Multiple submitters dyskeratosis congenita
• p.Glu603= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Glu793= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Glu912= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Glu941= Multiple submitters dyskeratosis congenita
• p.Gly1053= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly1060= Multiple submitters dyskeratosis congenita
• p.Gly109= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly110= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly133= Multiple submitters dyskeratosis congenita
• p.Gly138= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly145= Multiple submitters dyskeratosis congenita
• p.Gly172= Multiple submitters dyskeratosis congenita
• p.Gly179= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly241= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly260= Multiple submitters dyskeratosis congenita
• p.Gly264= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly291= Multiple submitters dyskeratosis congenita
• p.Gly300= Multiple submitters dyskeratosis congenita
• p.Gly306= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly356= Multiple submitters dyskeratosis congenita
• p.Gly374= Multiple submitters dyskeratosis congenita
• p.Gly406= Multiple submitters dyskeratosis congenita
• p.Gly433= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly433Asp Multiple submitters idiopathic pulmonary fibrosis
• p.Gly463= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly479= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly498= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly525= Multiple submitters dyskeratosis congenita
• p.Gly629= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly674= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly682= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly715= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Gly753= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly804= Multiple submitters idiopathic pulmonary fibrosis
• p.Gly847= Multiple submitters dyskeratosis congenita
• p.Gly963= Multiple submitters dyskeratosis congenita
• p.Gly967= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His151= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His189= Multiple submitters dyskeratosis congenita
• p.His205= Multiple submitters dyskeratosis congenita
• p.His304= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His400= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His412= Multiple submitters idiopathic pulmonary fibrosis
• p.His455= Multiple submitters dyskeratosis congenita
• p.His500= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His534= Multiple submitters idiopathic pulmonary fibrosis
• p.His687= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His752= Multiple submitters idiopathic pulmonary fibrosis
• p.His754= Multiple submitters idiopathic pulmonary fibrosis
• p.His779= Multiple submitters dyskeratosis congenita
• p.His816= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His876= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.His879= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ile1001= Multiple submitters idiopathic pulmonary fibrosis
• p.Ile1004= Multiple submitters dyskeratosis congenita
• p.Ile1046= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ile495= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ile587= Multiple submitters dyskeratosis congenita
• p.Ile589= Multiple submitters dyskeratosis congenita
• p.Ile720= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ile792= Multiple submitters idiopathic pulmonary fibrosis
• p.Ile831= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu1019= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu103= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu1033= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu104= Multiple submitters dyskeratosis congenita
• p.Leu1042= Multiple submitters dyskeratosis congenita
• p.Leu1047= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu1079= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu1092= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu1096= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu1107= Multiple submitters dyskeratosis congenita
• p.Leu123= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu13= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu131= Multiple submitters dyskeratosis congenita
• p.Leu139= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu140= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu141= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu153= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu158= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu175= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu22= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu234= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu285= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu289= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu354= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu396= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu448= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu451= Multiple submitters dyskeratosis congenita
• p.Leu452= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu477= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu497= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu505= Multiple submitters dyskeratosis congenita
• p.Leu508= Multiple submitters dyskeratosis congenita
• p.Leu520= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu536= Multiple submitters dyskeratosis congenita
• p.Leu541= Multiple submitters dyskeratosis congenita
• p.Leu548= Multiple submitters dyskeratosis congenita
• p.Leu55= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu557= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu617= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu630= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu661= Multiple submitters dyskeratosis congenita
• p.Leu665= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu675= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu681= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu706= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu780= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu80= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu837= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu844= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu853= Multiple submitters dyskeratosis congenita
• p.Leu862= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu863= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu866= Multiple submitters dyskeratosis congenita
• p.Leu887= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu927= Multiple submitters idiopathic pulmonary fibrosis
• p.Leu933= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu958= Multiple submitters dyskeratosis congenita
• p.Leu980= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Leu985= Multiple submitters dyskeratosis congenita
• p.Lys236= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Lys338= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Lys492= Multiple submitters dyskeratosis congenita
• p.Lys493= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Lys499= Multiple submitters idiopathic pulmonary fibrosis
• p.Lys502= Multiple submitters idiopathic pulmonary fibrosis
• p.Lys511= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Lys659= Multiple submitters dyskeratosis congenita
• p.Lys749= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Lys881= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Lys965= Multiple submitters idiopathic pulmonary fibrosis
• p.Lys981= Multiple submitters dyskeratosis congenita
• p.Phe1021= Multiple submitters dyskeratosis congenita
• p.Phe115= Multiple submitters idiopathic pulmonary fibrosis
• p.Phe270= Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Phe365= Multiple submitters dyskeratosis congenita, autosomal dominant 2

Uncertain significance 1483

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

• c.1770-3C>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2130+5G>A Multiple submitters dyskeratosis congenita
• c.2287-3C>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2468+103G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2582+3G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2654+5G>A Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.2655-47_2659dup Multiple submitters dyskeratosis congenita
• c.2971-3T>C Multiple submitters dyskeratosis congenita, autosomal dominant 2
• c.3157+3A>T Multiple submitters dyskeratosis congenita, autosomal dominant 2
• p.Ala1009Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1014Ser Multiple submitters dyskeratosis congenita ⚠
• p.Ala102Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1040Ser Multiple submitters dyskeratosis congenita ⚠
• p.Ala1052Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1052Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1058Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1061Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala107Asp Multiple submitters dyskeratosis congenita ⚠
• p.Ala1099Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1114Val Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala1117Asp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala1117Ser Multiple submitters dyskeratosis congenita ⚠
• p.Ala1117Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1118Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1118Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala1119Gly Multiple submitters dyskeratosis congenita ⚠
• p.Ala181Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala190Gly Multiple submitters dyskeratosis congenita ⚠
• p.Ala190Thr Multiple submitters dyskeratosis congenita ⚠
• p.Ala210Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala218Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala218Val Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala242Pro Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala242Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala243Thr Multiple submitters acute myeloid leukemia ⚠
• p.Ala257Gly Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala257Ser Multiple submitters dyskeratosis congenita ⚠
• p.Ala276Asp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala279Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala288Gly Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala305Thr Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Ala357Gly Multiple submitters dyskeratosis congenita ⚠
• p.Ala401Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala401Val Multiple submitters dyskeratosis congenita ⚠
• p.Ala417Gly Multiple submitters dyskeratosis congenita ⚠
• p.Ala417Pro Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala418Val Multiple submitters dyskeratosis congenita ⚠
• p.Ala422Gly Multiple submitters dyskeratosis congenita ⚠
• p.Ala422Thr Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala423Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala436Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala437Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala46Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala49Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala518Thr Multiple submitters acute myeloid leukemia ⚠
• p.Ala532Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala542Val Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala604Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala612Val Multiple submitters dyskeratosis congenita ⚠
• p.Ala62Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala642Thr Multiple submitters dyskeratosis congenita ⚠
• p.Ala651Pro Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala660Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala678Thr Multiple submitters dyskeratosis congenita ⚠
• p.Ala68Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala699Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala730Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala801Gly Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ala801Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala918Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala918Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala93Glu Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala93Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala956Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ala966Val Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg1034Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg1034His Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg1086Cys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg108Ser Multiple submitters dyskeratosis congenita ⚠
• p.Arg132Gln Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg15His Multiple submitters dyskeratosis congenita ⚠
• p.Arg194Gln Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg194Gly Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg195Gly Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg196His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg201Gln Multiple submitters dyskeratosis congenita ⚠
• p.Arg201Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg222Lys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg222Thr Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg224Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg224Gly Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg224His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg230Gln Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg230Leu Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg237Lys Multiple submitters dyskeratosis congenita ⚠
• p.Arg240Cys Multiple submitters dyskeratosis congenita ⚠
• p.Arg240Leu Multiple submitters dyskeratosis congenita ⚠
• p.Arg248Trp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg261Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg261Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg261Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg263Cys Multiple submitters dyskeratosis congenita ⚠
• p.Arg293His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg293Leu Multiple submitters dyskeratosis congenita ⚠
• p.Arg301His Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg312Trp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg315Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg315His Multiple submitters dyskeratosis congenita ⚠
• p.Arg342Trp Multiple submitters dyskeratosis congenita ⚠
• p.Arg351Gly Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg358Gln Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg369Gly Multiple submitters dyskeratosis congenita ⚠
• p.Arg377His Multiple submitters dyskeratosis congenita ⚠
• p.Arg378Gly Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg378Ser Multiple submitters dyskeratosis congenita ⚠
• p.Arg37Gln Multiple submitters acute myeloid leukemia ⚠
• p.Arg381Gly Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg381His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg381Pro Multiple submitters melanoma, cutaneous malignant, susceptibility to, 9 ⚠
• p.Arg385Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg390Trp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg41Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg428Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg446Cys Multiple submitters dyskeratosis congenita ⚠
• p.Arg447Gly Multiple submitters dyskeratosis congenita ⚠
• p.Arg447His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg447Leu Multiple submitters dyskeratosis congenita ⚠
• p.Arg470Cys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg471Trp Multiple submitters dyskeratosis congenita ⚠
• p.Arg486His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg515Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg521Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg521His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg521Leu Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg535Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg535His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg537Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg537His Multiple submitters dyskeratosis congenita ⚠
• p.Arg572Lys Multiple submitters dyskeratosis congenita ⚠
• p.Arg577Gln Multiple submitters dyskeratosis congenita ⚠
• p.Arg599Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg622His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg669Gln Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg672Cys Multiple submitters dyskeratosis congenita ⚠
• p.Arg672Leu Multiple submitters dyskeratosis congenita ⚠
• p.Arg672Ser Multiple submitters dyskeratosis congenita ⚠
• p.Arg691Cys Multiple submitters dyskeratosis congenita ⚠
• p.Arg691His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg691Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg696Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg696His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg698Gln Multiple submitters TERT-related disorder ⚠
• p.Arg742Cys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg756His Multiple submitters dyskeratosis congenita ⚠
• p.Arg774Gln Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Arg787Met Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg819His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg819Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg859Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg87Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg87Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg885Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Arg972Cys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Arg972Gly Multiple submitters dyskeratosis congenita ⚠
• p.Asn1120His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asn204Ile Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asn483Ser Multiple submitters dyskeratosis congenita ⚠
• p.Asn490Ser Multiple submitters dyskeratosis congenita ⚠
• p.Asn635Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asn737Asp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asn799Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asn899Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asn969His Multiple submitters dyskeratosis congenita ⚠
• p.Asp147Gly Multiple submitters melanoma, cutaneous malignant, susceptibility to, 9 ⚠
• p.Asp267Gly Multiple submitters dyskeratosis congenita ⚠
• p.Asp267His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp318Glu Multiple submitters dyskeratosis congenita ⚠
• p.Asp318Tyr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp337Asn Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp337Glu Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asp337Tyr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp442Asn Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asp444Glu Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asp516Asn Multiple submitters dyskeratosis congenita ⚠
• p.Asp516His Multiple submitters dyskeratosis congenita ⚠
• p.Asp637Ala Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp637Asn Multiple submitters dyskeratosis congenita ⚠
• p.Asp684Asn Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp718Asn Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp788Gly Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Asp848Asn Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asp936His Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Asp945Asn Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Cys271Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Cys271Gly Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Cys271Tyr Multiple submitters dyskeratosis congenita ⚠
• p.Cys403Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Cys426Trp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Cys528Tyr Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Cys842Tyr Multiple submitters interstitial lung disease 2 ⚠
• p.Gln1024His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln1076Glu Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gln1102Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln177Arg Multiple submitters dyskeratosis congenita ⚠
• p.Gln183Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln183Glu Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gln253His Multiple submitters dyskeratosis congenita ⚠
• p.Gln302His Multiple submitters dyskeratosis congenita ⚠
• p.Gln340His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln384Leu Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln450Arg Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gln450His Multiple submitters dyskeratosis congenita ⚠
• p.Gln454Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln454His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln53His Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gln608Lys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gln794Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu1068Gln Multiple submitters dyskeratosis congenita ⚠
• p.Glu200Gly Multiple submitters dyskeratosis congenita ⚠
• p.Glu209Asp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu209Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu245Asp Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Glu247Gln Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Glu327Gln Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu429Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu439Gln Multiple submitters dyskeratosis congenita ⚠
• p.Glu440Gly Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu539Gln Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Glu539Lys Multiple submitters dyskeratosis congenita ⚠
• p.Glu555Gln Multiple submitters dyskeratosis congenita ⚠
• p.Glu555Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu668Ala Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.Glu668Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu727Asp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu793Lys Multiple submitters dyskeratosis congenita ⚠
• p.Glu800Lys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Glu90Asp Multiple submitters dyskeratosis congenita ⚠
• p.Glu912Lys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly106Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly106Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly1109Glu Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly110Asp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly135Ala Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly138Ala Multiple submitters dyskeratosis congenita ⚠
• p.Gly179Ala Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly179Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly179Val Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly198Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly198Val Multiple submitters dyskeratosis congenita ⚠
• p.Gly226Val Multiple submitters dyskeratosis congenita ⚠
• p.Gly254Arg Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly254Trp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly287Ser Multiple submitters acute myeloid leukemia ⚠
• p.Gly356Ala Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly367Cys Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly374Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly398Glu Multiple submitters dyskeratosis congenita ⚠
• p.Gly424Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly42Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly463Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly476Ser Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly479Asp Multiple submitters dyskeratosis congenita ⚠
• p.Gly525Val Multiple submitters dyskeratosis congenita ⚠
• p.Gly527Asp Multiple submitters dyskeratosis congenita ⚠
• p.Gly629Arg Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly641Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly674Asp Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly674Cys Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly753Arg Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly804Asp Multiple submitters dyskeratosis congenita ⚠
• p.Gly804Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Gly861Arg Multiple submitters dyskeratosis congenita ⚠
• p.Gly916Asp Multiple submitters dyskeratosis congenita ⚠
• p.Gly926Ala Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Gly932Ser Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.His258Tyr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His294Gln Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.His294Leu Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.His294Tyr Multiple submitters dyskeratosis congenita ⚠
• p.His303Asn Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His303Leu Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His400Tyr Multiple submitters dyskeratosis congenita ⚠
• p.His500Leu Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His546Arg Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.His609Tyr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.His815Arg Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.His815Tyr Multiple submitters dyskeratosis congenita ⚠
• p.His816Asn Multiple submitters dyskeratosis congenita ⚠
• p.His876Asn Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 ⚠
• p.His925Gln Multiple submitters dyskeratosis congenita ⚠
• p.His925Tyr Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ile1036Thr Multiple submitters dyskeratosis congenita ⚠
• p.Ile364Val Multiple submitters dyskeratosis congenita ⚠
• p.Ile495Val Multiple submitters dyskeratosis congenita ⚠
• p.Ile587Met Multiple submitters idiopathic pulmonary fibrosis ⚠
• p.Ile587Thr Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ile587Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ile720Val Multiple submitters dyskeratosis congenita, autosomal dominant 2 ⚠
• p.Ile792Val Multiple submitters dyskeratosis congenita ⚠
• p.Leu103Gly Multiple submitters pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1