RS527236046 JAG1
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What This Variant Does
"CLNSIG=255
Associated Conditions
Alagille syndrome due to a JAG1 point mutation
Isolated Nonsyndromic Congenital Heart Disease
Charcot-Marie-Tooth disease
axonal
Type 2HH
Tetralogy of Fallot
Deafness
congenital heart defects
and posterior embryotoxon
Alagille syndrome due to a JAG1 point mutation
Isolated Nonsyndromic Congenital Heart Disease
Charcot-Marie-Tooth disease
axonal
Type 2HH
Tetralogy of Fallot
Other Variants in JAG1