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Items: 38

  • The following term was not found in ClinVar: masdevallia.
  • Showing results for Masdevallia andreae. Your search for Masdevallia andreae retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCE, LOC129996245
Single nucleotide variant
(5 prime UTR variant)
Fanconi anemia complementation group E
GUncertain significance
PRPH2
(V312fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PRPH2
(K154del)
Microsatellite
(inframe_deletion)
PRPH2-related disorder
+2 more
GPathogenic
FANCF
(R216P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PALB2
(L1101F)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(S1084L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
PALB2
(W1038*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
PALB2
(I1035N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PALB2
(I1013V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
(I966T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
PALB2
(K957Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
PALB2
(V932M)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+7 more
GBenign/Likely benign
PALB2
(V925L)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GUncertain significance
PALB2
Deletion
(inframe_deletion)
Familial cancer of breast
GUncertain significance
PALB2
(V836I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PALB2
(C756Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PALB2
(I654V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PALB2
(Q613*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
PALB2
(S548fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PALB2
(E545*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
PALB2
(K515R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
PALB2
(R476fs)
Duplication
not provided
+2 more
GPathogenic
PALB2
(L332H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PALB2
(T284A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
PALB2
(G232D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PALB2
(I195V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PALB2
Deletion
(frameshift variant)
Familial cancer of breast
+11 more
GPathogenic
PALB2
(R170T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PALB2
(V102A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(K75*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
PALB2
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PALB2
(L21S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(E13K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
RAD51C
(L61fs)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
LOC129390903, RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
BRIP1
(A759fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
BRIP1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
BRIP1
(M532V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+3 more
GUncertain significance
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