NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|not provided|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β
β
ββ2026β Residue 145
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)Pathogenic
not provided|Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β
β
ββ2026β Residue 448
NM_015474.4(SAMHD1):c.1062+1G>TPathogenic
Aicardi-Goutieres syndrome 5
β
β
ββ2026
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Chilblain lupus 2;Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β
β
ββ2026β Residue 194
NM_015474.4(SAMHD1):c.626-1G>CPathogenic
Aicardi-Goutieres syndrome 5|not provided|Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Aicardi Goutieres syndrome
β
β
ββ2026
NM_015474.4(SAMHD1):c.1411-2A>GPathogenic
Aicardi-Goutieres syndrome 5|not provided|SAMHD1-related disorder|Chilblain lupus 2;Aicardi-Goutieres syndrome 5
β
β
ββ2026
NM_015474.4(SAMHD1):c.664_673del (p.Ile222fs)Pathogenic
Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Aicardi-Goutieres syndrome 5
β
β
ββ2026β Residue 222
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β
β
ββ2025β Residue 492
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)Pathogenic
Aicardi-Goutieres syndrome 5|Chilblain lupus 2|Aicardi Goutieres syndrome|not provided|Chilblain lupus 2;Aicardi-Goutieres syndrome 5
β
β
ββ2025β Residue 201
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β
β
ββ2025β Residue 143
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β
β
ββ2025β Residue 106
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Aicardi Goutieres syndrome
β
β
ββ2025β Residue 23
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)Likely pathogenic
Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5
β
β
ββ2025β Residue 290
NM_015474.4(SAMHD1):c.434G>C (p.Arg145Pro)Likely pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 145
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi-Goutieres syndrome 5;Chilblain lupus 2|Inborn genetic diseases|Aicardi Goutieres syndrome
β
β
ββ2025β Residue 134
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)Pathogenic
Aicardi-Goutieres syndrome 5|not provided
β
β
ββ2025β Residue 442
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)Pathogenic
Aicardi-Goutieres syndrome 5|not provided|Aicardi Goutieres syndrome|Aicardi-Goutieres syndrome 5;Chilblain lupus 2
β
β
ββ2025β Residue 216
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β
β
ββ2025β Residue 551
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome|Chilblain lupus 2;Aicardi-Goutieres syndrome 5
β
β
ββ2025β Residue 235
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)Pathogenic
Aicardi-Goutieres syndrome 5|Chilblain lupus 2;Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome
β
β
ββ2025β Residue 220