NM_015450.3(POT1):c.147del (p.Ile49fs)Pathogenic
not provided|Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome|Long telomere syndrome
★★☆☆2026→ Residue 49
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)Pathogenic
Tumor predisposition syndrome 3|not provided|Hereditary cancer-predisposing syndrome|POT1-related disorder|Cerebroretinal microangiopathy with calcifications and cysts 3|Long telomere syndrome
★★☆☆2026→ Residue 363
NM_015450.3(POT1):c.1071dup (p.Gln358fs)Pathogenic
Tumor predisposition syndrome 3|not provided|Hereditary cancer-predisposing syndrome|Long telomere syndrome
★★☆☆2026→ Residue 358
NM_015450.3(POT1):c.10-2A>CPathogenic
Tumor predisposition syndrome 3|not provided|Hereditary cancer-predisposing syndrome|Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8;Tumor predisposition syndrome 3;Cerebroretinal microangiopathy with calcifications and cysts 3
★★☆☆2026
NM_015450.3(POT1):c.1369+1G>ALikely pathogenic
Hereditary cancer-predisposing syndrome|Tumor predisposition syndrome 3
★★☆☆2025
NM_015450.3(POT1):c.854_855del (p.Val285fs)Pathogenic
Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 285
NM_015450.3(POT1):c.546+2T>GPathogenic
Tumor predisposition syndrome 3|Long telomere syndrome
★★☆☆2025
NM_015450.3(POT1):c.126T>A (p.Asp42Glu)Pathogenic
Tumor predisposition syndrome 3|Long telomere syndrome
★★☆☆2025→ Residue 42
NM_015450.3(POT1):c.499C>T (p.Gln167Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Tumor predisposition syndrome 3|Long telomere syndrome
★★☆☆2025→ Residue 167
NM_015450.3(POT1):c.1107del (p.Ser368_Tyr369insTer)Pathogenic
Hereditary cancer-predisposing syndrome|Tumor predisposition syndrome 3|not provided|Polycystic kidney disease 4|Long telomere syndrome
★★☆☆2025→ Residue 368
NM_015450.3(POT1):c.1251del (p.Leu418fs)Pathogenic
Hereditary cancer-predisposing syndrome|Tumor predisposition syndrome 3|Long telomere syndrome
★★☆☆2025→ Residue 418
NM_015450.3(POT1):c.1164-1G>APathogenic
Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome|not provided|Long telomere syndrome|Acute myeloid leukemia
★★☆☆2025
NM_015450.3(POT1):c.124+1G>CPathogenic
Tumor predisposition syndrome 3|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025
NM_015450.3(POT1):c.224del (p.Asn75fs)Pathogenic
Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 75
NM_015450.3(POT1):c.154C>T (p.Gln52Ter)Pathogenic
Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 52
NM_015450.3(POT1):c.126T>G (p.Asp42Glu)Pathogenic
Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 42
NM_015450.3(POT1):c.1502_1503del (p.Tyr501fs)Pathogenic
Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 501
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter)Pathogenic
not provided|Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 524
NM_015450.3(POT1):c.281_282del (p.Gln94fs)Pathogenic
not provided|Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 94
NM_015450.3(POT1):c.1060_1063del (p.Gln354fs)Pathogenic
Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 354