U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 174

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
MIR4503, MIR624
+399 more
Copy number loss
See cases
GPathogenic
FOXG1, LINC01551
+12 more
Copy number loss
Rett syndrome, congenital variant
GPathogenic
AKAP6, AP4S1
+73 more
Copy number loss
See cases
GPathogenic
PRKD1
(R908H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
PRKD1
(H803R +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PRKD1
(N894S +2 more)
Single nucleotide variant
(missense variant)
PRKD1-related disorder
+1 more
GBenign
PRKD1
(Q788* +2 more)
Single nucleotide variant
(nonsense)
Congenital heart defects and ectodermal dysplasia
GUncertain significance
PRKD1
(E875K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
PRKD1-related disorder
GLikely benign
PRKD1
(R858H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKD1
(I767N +2 more)
Single nucleotide variant
(missense variant)
PRKD1-related disorder
GLikely benign
PRKD1
(D841V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(T745N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKD1
(N818S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(L727V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(intron variant)
Congenital heart defects and ectodermal dysplasia
GBenign
PRKD1
(I816V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PRKD1
Single nucleotide variant
(synonymous variant)
PRKD1-related disorder
GLikely benign
PRKD1
(G779S +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKD1
(L764R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(R762C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PRKD1
(N669S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(R652Q +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PRKD1
(R644Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKD1
(F736L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(L637F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PRKD1
Single nucleotide variant
(intron variant)
Congenital heart defects and ectodermal dysplasia
GBenign
PRKD1
(D726E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(V624M +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
GLikely pathogenic
PRKD1
(N701S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(intron variant)
Congenital heart defects and ectodermal dysplasia
GUncertain significance
PRKD1
(S584L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKD1
(M669V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(D665N +2 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
PRKD1
(F649L +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GUncertain significance
PRKD1
(V555del +2 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PRKD1
(G553S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(splice donor variant)
Congenital heart defects and ectodermal dysplasia
GLikely pathogenic
PRKD1
(I633V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(R540C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(S537I +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GUncertain significance
PRKD1
(R618* +2 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PRKD1
(R515L +2 more)
Single nucleotide variant
(missense variant)
PRKD1-related disorder
GUncertain significance
PRKD1
(R515H +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
+1 more
GConflicting classifications of pathogenicity
PRKD1
(Y510D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKD1
(G592R +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GPathogenic
PRKD1
(P497L +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GBenign
PRKD1
(G463S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKD1
(V462M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(P457S +2 more)
Single nucleotide variant
(missense variant)
PRKD1-related disorder
GUncertain significance
PRKD1
(V455I +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKD1
Single nucleotide variant
(synonymous variant)
PRKD1-related disorder
GLikely benign
PRKD1
(Q449K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(A441T +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
+1 more
GUncertain significance
PRKD1
(V436I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(T408M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(E405K +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKD1
(G486R +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
+1 more
GUncertain significance
PRKD1
(A481T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PRKD1
(S480P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKD1
Deletion
(intron variant)
PRKD1-related disorder
GLikely benign
PRKD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKD1
(R441Q +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GUncertain significance
PRKD1
(R351Q +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GLikely pathogenic
PRKD1
Single nucleotide variant
(intron variant)
PRKD1-related disorder
+1 more
GBenign
PRKD1
(K443R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(S434T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(W340C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(M432V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(P317A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PRKD1
(E390K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PRKD1
(S379R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(Q384H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(M284V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRKD1
(A371V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(M360I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(S266N +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and ectodermal dysplasia
GUncertain significance
PRKD1
(M341L +2 more)
Single nucleotide variant
(missense variant)
PRKD1-related disorder
+1 more
GBenign/Likely benign
PRKD1
(S249P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
(G328R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
Format
Items per page
Sort by
Choose Destination