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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMS1
(E59K)
Indel
(missense variant +3 more)
not specified
Gnot provided
PMS1
(A96G)
Single nucleotide variant
(missense variant +3 more)
Ovarian cancer
GLikely pathogenic
PMS1
(T110R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
Gnot provided
PMS1
(G166S)
Single nucleotide variant
(missense variant +1 more)
PMS1-related disorder
GLikely benign
PMS1
(C104fs +1 more)
Duplication
(frameshift variant +2 more)
not specified
Gnot provided
PMS1
(H192R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(R202K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GLikely benign
PMS1
(T334M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(M394T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PMS1
(G479A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(G501R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PMS1
(E537K +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+2 more
GLikely benign
PMS1
(K548R +3 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 1
+1 more
GBenign/Likely benign
PMS1
(V582I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMS1
(R630* +3 more)
Single nucleotide variant
(nonsense +2 more)
PMS1-related breast cancer
GUncertain significance
PMS1
(N632S +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GLikely benign
PMS1
(I686M +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
Gnot provided
PMS1
(S740F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(Y793D +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(Y793H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PMS1
(T806S +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PMS1
(P824T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
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