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Links from MedGen

Items: 1 to 100 of 252

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RHBDF2
(R22Q)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R105C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(M562L +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
Deletion
(inframe_deletion +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(S10N)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P615R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(K322N +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R105S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P25L)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R355H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(A162S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Q217H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(T599I +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R237Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(V14L)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(F368L +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(K443R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R773Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R110H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(H827P +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R569C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(C606W +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Q111R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(S356G +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(T482I +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R351C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R163Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(K657E +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(S724L +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(E529A +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R663H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(A397S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Y377C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Q234R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(V472I +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P24S)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(L777V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(F428V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(V420M +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(K153M +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(H383Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R119C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(E489D +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P546S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(S21I)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G415V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R323C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RHBDF2
(P533L +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(G606D +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
Single nucleotide variant
(intron variant)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R449W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
RHBDF2
(R124H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R815C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RHBDF2
(S262D +1 more)
Inversion
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Q498R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G51D)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(R363Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R320C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P503S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(L642F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(T376A +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(C392G +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R372Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Q234E +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P292S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(E418K +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P274T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RHBDF2
(S434P +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(I435M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RHBDF2
(K207E +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(V277I +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G233R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(V128L +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R113H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P691L +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(E818K +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(V791M +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(M173T +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
Single nucleotide variant
(intron variant)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(F193V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G256R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(S148F +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G101S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R449Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RHBDF2
(P297S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R66G +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R584W +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R197C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(H404Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R237W +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G452R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R319W +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Q138E +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R412W +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(H640Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R121H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G105R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(I681V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(I573V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(E455K +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
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