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Items: 1 to 100 of 278

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA10, ADAM11
+2032 more
Copy number gain
See cases
GPathogenic
LOC130060795, LOC130060796
+1753 more
Copy number gain
See cases
GPathogenic
APPBP2, APPBP2-DT
+61 more
Copy number loss
See cases
GPathogenic
APPBP2, APPBP2-DT
+56 more
Copy number loss
See cases
GPathogenic
APPBP2, APPBP2-DT
+49 more
Copy number loss
See cases
GPathogenic
PPM1D
Single nucleotide variant
not provided
GBenign
PPM1D
Single nucleotide variant
not provided
GBenign
PPM1D
Deletion
not provided
GBenign
PPM1D
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(Q26H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(I27M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(V28A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPM1D
(K38E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(R43Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(S44W)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
+1 more
GUncertain significance
PPM1D
(L45P)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GUncertain significance
PPM1D
(S46C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(L49F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
PPM1D
(P50S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(S54A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PPM1D
(A56G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PPM1D
(L58F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(L58V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PPM1D
(G60D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(G65E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(P78L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPM1D
(A82S)
Single nucleotide variant
(missense variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPM1D
(G83W)
Single nucleotide variant
(missense variant)
Ovarian cancer
GLikely pathogenic
PPM1D
(A84V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(P86L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(P86Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
PPM1D
(P88S)
Single nucleotide variant
(missense variant)
not provided
GBenign
PPM1D
(P88L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(S89R)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
+1 more
GUncertain significance
PPM1D
(R90G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
PPM1D
(R90P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(R94H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(A102T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(R117G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PPM1D
(H119R)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GUncertain significance
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(L147V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PPM1D
(A152T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+3 more
GBenign/Likely benign
PPM1D
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(M164K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(T165M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129390907, PPM1D
(R181W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129390907, PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC129390907, PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129390907, PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129390907, PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129390907, PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PPM1D
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
Single nucleotide variant
(intron variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(intron variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
PPM1D
(M236V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
(H253fs)
Microsatellite
(frameshift variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GUncertain significance
PPM1D
(V271I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPM1D
Single nucleotide variant
(intron variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(intron variant)
not provided
GBenign
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(I310V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPM1D
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPM1D
(S313T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PPM1D
(Y337H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PPM1D
(M339V)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GUncertain significance
PPM1D
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GUncertain significance
PPM1D
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
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