NM_000501.4(ELN):c.800-3C>GPathogenic
Supravalvar aortic stenosis|not provided|Inborn genetic diseases
β
β
ββ2026
NM_000501.4(ELN):c.800-2A>GPathogenic
Supravalvar aortic stenosis
β
β
ββ2025
NM_000501.4(ELN):c.2T>C (p.Met1Thr)Pathogenic
not provided|Supravalvar aortic stenosis
β
β
ββ2025β Residue 1
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)Pathogenic
Supravalvar aortic stenosis|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 131
NM_000501.4(ELN):c.757del (p.Gln253fs)Pathogenic
not provided|Supravalvar aortic stenosis
β
β
ββ2025β Residue 253
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)Pathogenic
not provided|Supravalvar aortic stenosis
β
β
ββ2025β Residue 150
NM_000501.4(ELN):c.295_296del (p.Ala99fs)Pathogenic
not provided|Supravalvar aortic stenosis
β
β
ββ2025β Residue 99
NM_000501.4(ELN):c.171del (p.Pro58fs)Pathogenic
Supravalvar aortic stenosis
β
β
ββ2025β Residue 58
NM_000501.4(ELN):c.814G>T (p.Gly272Ter)Pathogenic
Supravalvar aortic stenosis
β
β
ββ2025β Residue 272
NM_000501.4(ELN):c.377-2A>GPathogenic
Supravalvar aortic stenosis|not provided
β
β
ββ2025
NM_000501.4(ELN):c.889+1G>APathogenic
not provided|Supravalvar aortic stenosis
β
β
ββ2025
NM_000501.4(ELN):c.1733del (p.Pro578fs)Pathogenic
Supravalvar aortic stenosis
β
β
ββ2025β Residue 578
NM_000501.4(ELN):c.69del (p.Ser24fs)Pathogenic
Supravalvar aortic stenosis
β
β
ββ2024β Residue 24
NM_000501.4(ELN):c.686-2A>GLikely pathogenic
Supravalvar aortic stenosis
β
β
ββ2024
NM_000501.4(ELN):c.800-1G>APathogenic
not provided|Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis|ELN-related disorder
β
β
ββ2024
NM_000501.4(ELN):c.82+1G>APathogenic
Supravalvar aortic stenosis
β
β
ββ2024
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)Pathogenic
Supravalvar aortic stenosis
β
β
ββ2024β Residue 428
NM_000501.4(ELN):c.166del (p.Leu56fs)Pathogenic
Supravalvar aortic stenosis|Williams syndrome;Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis
β
β
ββ2024β Residue 56
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)Pathogenic
Supravalvar aortic stenosis|not provided
β
β
ββ2024β Residue 442
NM_000501.4(ELN):c.643+1G>CLikely pathogenic
Supravalvar aortic stenosis
β
β
ββ2024