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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACSL6, ADAMTS19
+44 more
Copy number loss
Houge-Janssens syndrome 3
GPathogenic
PPP2CA
(G25R +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GUncertain significance
PPP2CA
(Y130F +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GUncertain significance
PPP2CA
(Y127fs +1 more)
Deletion
(frameshift variant +1 more)
Houge-Janssens syndrome 3
GPathogenic
PPP2CA
(F164fs +1 more)
Deletion
(frameshift variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
(G168fs +1 more)
Insertion
(frameshift variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
Single nucleotide variant
(intron variant)
Houge-Janssens syndrome 3
GUncertain significance
PPP2CA
(H118R +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
+1 more
GConflicting classifications of pathogenicity
PPP2CA
Single nucleotide variant
(splice donor variant)
Houge-Janssens syndrome 3
GPathogenic
PPP2CA
(V45M)
Single nucleotide variant
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
Single nucleotide variant
(intron variant)
Houge-Janssens syndrome 3
GUncertain significance
PPP2CA
Single nucleotide variant
(5 prime UTR variant)
Houge-Janssens syndrome 3
+1 more
GBenign
PPP2CA
(Q60K +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
(H176R +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
(Q177E +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GPathogenic
PPP2CA
(Y127C +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
+1 more
GLikely pathogenic
PPP2CA
(Q122H +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
(D158V +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
(D158H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PPP2CA
(D131H +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
(G60V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Houge-Janssens syndrome 3
GUncertain significance
PPP2CA
(D88G +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GPathogenic/Likely pathogenic
PPP2CA
(Y265C +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
Duplication
(inframe_insertion +1 more)
Houge-Janssens syndrome 3
GLikely pathogenic
PPP2CA
(Q125* +1 more)
Single nucleotide variant
(nonsense +1 more)
Houge-Janssens syndrome 3
GPathogenic
PPP2CA
(F146fs +1 more)
Deletion
(frameshift variant +1 more)
Houge-Janssens syndrome 3
GPathogenic
PPP2CA
(H191R +1 more)
Single nucleotide variant
(missense variant +1 more)
Houge-Janssens syndrome 3
+1 more
GPathogenic/Likely pathogenic
PPP2CA
(R214* +1 more)
Single nucleotide variant
(nonsense +1 more)
Houge-Janssens syndrome 3
+1 more
GConflicting classifications of pathogenicity
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