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Items: 1 to 100 of 221

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOC, MYOCOS
+540 more
Copy number loss
See cases
GPathogenic
LOC129932082, LOC129932083
+561 more
Copy number loss
See cases
GPathogenic
ABL2, ACBD6
+513 more
Copy number gain
See cases
GPathogenic
MIR488, MR1
+456 more
Copy number loss
See cases
GPathogenic
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
APOBEC4, ARPC5
+160 more
Copy number loss
See cases
GPathogenic
GS1-204I12.4, HMCN1
+44 more
Copy number loss
See cases
GPathogenic
PLA2G4A, PRG4
+32 more
Copy number gain
See cases
GUncertain significance
HMCN1, LINC01036
+32 more
Copy number gain
See cases
GUncertain significance
PRG4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PRG4
Single nucleotide variant
(5 prime UTR variant)
PRG4-related disorder
GLikely benign
PRG4
(L11fs)
Duplication
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GLikely pathogenic
PRG4
Single nucleotide variant
(intron variant)
PRG4-related disorder
GLikely benign
PRG4
Single nucleotide variant
(synonymous variant +1 more)
PRG4-related disorder
GLikely benign
PRG4
(R62K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
PRG4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PRG4
(L27V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(Y52D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(Y100F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(E101* +1 more)
Single nucleotide variant
(nonsense)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
(F103S +1 more)
Single nucleotide variant
(missense variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GUncertain significance
PRG4
(E106K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(P114Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRG4
(K118N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRG4
(R135G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRG4
(R94H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRG4
(K144T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRG4
(R180W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PRG4
(R180Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRG4
(N146T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PRG4
(P119S +4 more)
Single nucleotide variant
(missense variant)
PRG4-related disorder
GLikely benign
PRG4
(D179A +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PRG4
(P143H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T104M +4 more)
Single nucleotide variant
(missense variant)
PRG4-related disorder
GBenign
PRG4
Single nucleotide variant
(synonymous variant)
PRG4-related disorder
GLikely benign
PRG4
(N151S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Single nucleotide variant
(synonymous variant)
PRG4-related disorder
GBenign
PRG4
Single nucleotide variant
(synonymous variant)
PRG4-related disorder
GLikely benign
PRG4
(T190I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(V191fs +4 more)
Deletion
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
(T158del +4 more)
Microsatellite
(inframe_deletion)
not provided
GBenign
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(T257A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(E209V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(A214T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(Q177K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(Q177H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(L187* +4 more)
Single nucleotide variant
(nonsense)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GLikely pathogenic
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(A288T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(E202K +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRG4
(K245fs +4 more)
Duplication
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
(P337S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(S254P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T265fs +4 more)
Deletion
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
(P361R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(P366L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(K276N +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(A287V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(P298H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(A302T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(K307fs +4 more)
Duplication
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
(P358L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Deletion
(inframe_deletion)
not provided
GBenign
PRG4
(P340L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(E481K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PRG4
(A393V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(P423L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T517I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T485S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(P496T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(T464P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PRG4
(E433fs +4 more)
Deletion
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(P493L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(P546S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(A508V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T470A +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PRG4
(T561I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(P512S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T526N +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(L490F +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T532P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T582M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Indel
(inframe_insertion)
not provided
GLikely benign
PRG4
(L591P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PRG4
(A499P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(P637fs +4 more)
Deletion
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
(E504fs +4 more)
Deletion
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRG4
(E512fs +4 more)
Deletion
(frameshift variant)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
GPathogenic
PRG4
(P522T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(T567N +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
(P530A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRG4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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