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Items: 1 to 100 of 318

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+863 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
FAM153A, FAM153B
+176 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+292 more
Copy number gain
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+145 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+142 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+141 more
Copy number loss
See cases
GPathogenic
ARL10, B4GALT7
+172 more
Copy number loss
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
PROP1
Single nucleotide variant
(3 prime UTR variant)
Pituitary hormone deficiency, combined, 2
GUncertain significance
PROP1
Single nucleotide variant
(3 prime UTR variant)
Pituitary hormone deficiency, combined, 2
GUncertain significance
PROP1
Single nucleotide variant
(3 prime UTR variant)
Pituitary hormone deficiency, combined, 2
GBenign
PROP1
Single nucleotide variant
(3 prime UTR variant)
Pituitary hormone deficiency, combined, 2
GBenign
PROP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PROP1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(3 prime UTR variant)
Pituitary hormone deficiency, combined, 2
GUncertain significance
PROP1
(S224C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PROP1
(S218fs)
Duplication
(frameshift variant)
Pituitary hormone deficiency, combined, 2
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(P211H)
Single nucleotide variant
(missense variant)
PROP1-related disorder
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(P211fs)
Duplication
(frameshift variant)
Pituitary hormone deficiency, combined, 2
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PROP1
(P210fs)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(C208fs)
Duplication
(frameshift variant)
Pituitary hormone deficiency, combined, 2
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PROP1
(G204fs)
Deletion
(frameshift variant)
Pituitary hormone deficiency, combined, 2
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(Y195fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PROP1
(W194*)
Single nucleotide variant
(nonsense)
Pituitary hormone deficiency, combined, 2
GPathogenic/Likely pathogenic
PROP1
(W194*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(Q190*)
Single nucleotide variant
(nonsense)
Pituitary hormone deficiency, combined, 2
GLikely pathogenic
PROP1
(A186V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PROP1
(A186fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PROP1
(A184T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PROP1
(A184P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
PROP1-related disorder
+1 more
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(P163Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PROP1
Microsatellite
(inframe_insertion)
Inborn genetic diseases
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(Y157*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
Pituitary hormone deficiency, combined, 2
+3 more
GConflicting classifications of pathogenicity
PROP1
(Y155fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PROP1
(S145G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(A142V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PROP1
(A142T)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 2
+2 more
GBenign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(L135V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(L131fs)
Deletion
(frameshift variant)
Pituitary hormone deficiency, combined, 2
GLikely pathogenic
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(S130fs)
Microsatellite
(frameshift variant)
Pituitary hormone deficiency, combined, 2
+1 more
GPathogenic/Likely pathogenic
PROP1
(R129C)
Single nucleotide variant
(missense variant)
PROP1-related disorder
+1 more
GConflicting classifications of pathogenicity
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(R125W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PROP1
(R120H)
Single nucleotide variant
(missense variant)
Combined pituitary hormone deficiencies, genetic form
+2 more
GConflicting classifications of pathogenicity
PROP1
(R120C)
Single nucleotide variant
(missense variant)
Pituitary hormone deficiency, combined, 2
+1 more
GPathogenic/Likely pathogenic
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PROP1
(Q118*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PROP1
(F117I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PROP1
Single nucleotide variant
(splice acceptor variant +1 more)
Pituitary hormone deficiency, combined, 2
GLikely pathogenic
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