NM_001111.5(ADAR):c.1078C>T (p.Arg360Ter)Pathogenic
not provided|Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities
★★☆☆2025→ Residue 360
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)Pathogenic
Inborn genetic diseases|Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities|Aicardi-Goutieres syndrome 6|not provided|ADAR-related type 1 interferonopathy
★★☆☆2025→ Residue 813
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)Pathogenic
Symmetrical dyschromatosis of extremities|Aicardi-Goutieres syndrome 6|Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities|not provided|Leukodystrophy, Adult-Onset
★★☆☆2025→ Residue 1007
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter)Pathogenic
Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6|Symmetrical dyschromatosis of extremities
★★☆☆2025→ Residue 328
NM_001111.5(ADAR):c.2885+1G>ALikely pathogenic
Symmetrical dyschromatosis of extremities|Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★★☆☆2025
NM_001111.5(ADAR):c.1600C>T (p.Arg534Ter)Pathogenic
ADAR-related disorder|not provided
★★☆☆2025→ Residue 534
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs)Pathogenic
not provided|Aicardi-Goutieres syndrome 6|Cerebral calcification
★★☆☆2025→ Residue 857
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)Pathogenic
Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★★☆☆2024→ Residue 1078
NM_001111.5(ADAR):c.3364A>C (p.Lys1122Gln)Likely pathogenic
Aicardi-Goutieres syndrome 6
★★☆☆2024→ Residue 1122
NM_001111.5(ADAR):c.1675C>T (p.Gln559Ter)Pathogenic
not provided|Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★★☆☆2024→ Residue 559
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)Pathogenic
Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6|not provided
★★☆☆2023→ Residue 856
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)Pathogenic
Inborn genetic diseases|not provided|Aicardi-Goutieres syndrome 6|Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★★☆☆2023→ Residue 1096
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)Pathogenic
Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities|Aicardi-Goutieres syndrome 6
★★☆☆2023→ Residue 1122
NM_001111.5(ADAR):c.3140G>A (p.Gly1047Asp)Pathogenic
Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities
★☆☆☆2026→ Residue 1047
NM_001111.5(ADAR):c.1295_1296del (p.Leu432fs)Pathogenic
Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★☆☆☆2025→ Residue 432
NM_001111.5(ADAR):c.1487_1490del (p.Leu496fs)Pathogenic
Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★☆☆☆2025→ Residue 496
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter)Pathogenic
Symmetrical dyschromatosis of extremities|Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★☆☆☆2025→ Residue 474
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)Pathogenic
Symmetrical dyschromatosis of extremities;Aicardi-Goutieres syndrome 6
★☆☆☆2025→ Residue 131
NM_001111.5(ADAR):c.2270+1G>ALikely pathogenic
Aicardi-Goutieres syndrome 6
★☆☆☆2025
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)Pathogenic
Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities
★☆☆☆2025→ Residue 174