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Links from MedGen

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
(G3051E)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ELN
(T300S +6 more)
Single nucleotide variant
(missense variant)
Varicose disease
+9 more
GUncertain significance
Translocation
Global developmental delay
+3 more
GUncertain significance
TP53
(Q222K +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GBenign
MUTYH
(E480del +7 more)
Microsatellite
(inframe_deletion +1 more)
Familial adenomatous polyposis 2
+3 more
GPathogenic/Likely pathogenic
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