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Links from MedGen

Items: 1 to 100 of 202

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RHBDF2
Single nucleotide variant
(intron variant)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R449W +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+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)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+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)
Palmoplantar keratoderma-esophageal carcinoma syndrome
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
RHBDF2
(G441E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(Q44R)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R466Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G431R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(A123T +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(S445L +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(S10I)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(V344M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RHBDF2
(D540N +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(A725V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(S13P)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(H339Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G785S +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(H371Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(I762V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(D334H +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(G444R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(V89F +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(R663C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(R289Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(V382I +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+2 more
GUncertain significance
RHBDF2
(V11G)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(R341Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
RHBDF2
(R355C +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GConflicting classifications of pathogenicity
RHBDF2
(K52R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RHBDF2
(D369V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(P546L +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
+1 more
GBenign
RHBDF2
(G186R +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(A678T +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(A665T +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(N722K +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GUncertain significance
RHBDF2
(R319Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R270H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RHBDF2
(A71S)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
Single nucleotide variant
(synonymous variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GBenign
RHBDF2
(R97Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+2 more
GConflicting classifications of pathogenicity
RHBDF2
(R80C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
RHBDF2
(N376D +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R441Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GLikely benign
RHBDF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
(R136W +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GConflicting classifications of pathogenicity
RHBDF2
(L488V +1 more)
Single nucleotide variant
(missense variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
+1 more
GConflicting classifications of pathogenicity
RHBDF2
(G511S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RHBDF2
Single nucleotide variant
(intron variant)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GLikely benign
RHBDF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
RHBDF2
Single nucleotide variant
(5 prime UTR variant +1 more)
Palmoplantar keratoderma-esophageal carcinoma syndrome
GUncertain significance
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