NM_006412.4(AGPAT2):c.493-1G>CPathogenic
Congenital generalized lipodystrophy type 1|Thyroid cancer, nonmedullary, 1
β
β
ββ2026
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)Pathogenic
Congenital generalized lipodystrophy type 1|not provided|Malignant tumor of urinary bladder|AGPAT2-related disorder
β
β
ββ2026β Residue 216
NM_006412.4(AGPAT2):c.492+1G>APathogenic
Congenital generalized lipodystrophy type 1|not provided
β
β
ββ2025
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)Pathogenic
not provided|Congenital generalized lipodystrophy type 1
β
β
ββ2024β Residue 124
NM_006412.4(AGPAT2):c.589-2A>GPathogenic
Congenital generalized lipodystrophy type 1|not provided|Congenital generalized lipodystrophy
β
β
ββ2024
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β
β
ββ2024β Residue 128
NM_006412.4(AGPAT2):c.656_660del (p.Thr219fs)Likely pathogenic
AGPAT2-related disorder|not provided
β
β
ββ2024β Residue 219
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β
β
ββ2024β Residue 112
NM_006412.4(AGPAT2):c.662-2A>CPathogenic
not provided|Congenital generalized lipodystrophy type 1
β
β
ββ2024
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β
β
ββ2023β Residue 68
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β
β
ββ2021β Residue 172
NM_006412.4(AGPAT2):c.493-2A>GLikely pathogenic
Congenital generalized lipodystrophy type 1
β
β
ββ2021
NM_006412.4(AGPAT2):c.769del (p.Leu257fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β
βββ2024β Residue 257
NM_006412.4(AGPAT2):c.530_537dup (p.Asp180fs)Pathogenic
Congenital generalized lipodystrophy type 1
β
βββ2024β Residue 180
NM_006412.4(AGPAT2):c.158del (p.Gly53fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β
βββ2024β Residue 53
NM_006412.4(AGPAT2):c.242_245del (p.Arg81fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β
βββ2024β Residue 81
NM_006412.4(AGPAT2):c.34del (p.Leu12fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β
βββ2024β Residue 12
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)Likely pathogenic
Congenital generalized lipodystrophy type 1|not provided
β
βββ2023β Residue 112
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)Pathogenic
Congenital generalized lipodystrophy type 1
β
βββ2022β Residue 13
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)Likely pathogenic
Congenital generalized lipodystrophy type 1
β
βββ2020β Residue 229