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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNH, RASA1
(Y256* +1 more)
Single nucleotide variant
(nonsense +1 more)
Angioosteohypertrophic syndrome
GPathogenic
CCNH, RASA1
(W181* +1 more)
Single nucleotide variant
(nonsense +1 more)
Angioosteohypertrophic syndrome
GPathogenic
CCNH, RASA1
(K484fs +1 more)
Duplication
(frameshift variant +1 more)
Angioosteohypertrophic syndrome
GPathogenic
PIK3CA
(D939G)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with mainly venous malformation with capillary component
+2 more
GPathogenic/Likely pathogenic
PIK3CA
(E110del)
Microsatellite
(inframe_deletion)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GLikely pathogenic
PIK3CA
(N1044K)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(E365K)
Single nucleotide variant
(missense variant)
PIK3CA-related disorder
+4 more
GPathogenic
PIK3CA
(G118D)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+3 more
GPathogenic
GNAQ
(R183Q)
Single nucleotide variant
(missense variant)
Capillary malformation
+7 more
GPathogenic/Likely pathogenic
OOncogenic
PIK3CA
(G914R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+6 more
GPathogenic/Likely pathogenic
OOncogenic
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