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Items: 1 to 100 of 147

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AASDH, ADGRL3
+244 more
Copy number gain
See cases
GPathogenic
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
AASDH, ADGRL3
+177 more
Copy number gain
See cases
GPathogenic
CHIC2, DANCR
+65 more
Copy number loss
See cases
GPathogenic
CDKL2, LOC110120745
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992618, LOC129992619
+143 more
Copy number gain
See cases
GPathogenic
AASDH, ARL9
+136 more
Copy number loss
See cases
GPathogenic
AASDH, ADGRL3
+100 more
Copy number loss
See cases
GPathogenic
KDR
(G1337D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(I1330L)
Single nucleotide variant
(missense variant)
KDR-related disorder
GBenign
KDR
Single nucleotide variant
(synonymous variant)
KDR-related disorder
GLikely benign
KDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KDR
(R1291M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDR
(V1286L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
KDR-related disorder
GLikely benign
KDR
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
KDR
(E1273Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(K1270Q)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
KDR
(L1264F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(T1258M)
Single nucleotide variant
(missense variant)
Teratoma
GUncertain significance
KDR
(R1229Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(Y1223C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
Capillary infantile hemangioma
GUncertain significance
KDR
Single nucleotide variant
(intron variant)
KDR-related disorder
GLikely benign
KDR
(A1166T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(L1163F)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
KDR
(H1159Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
Carcinoma of colon
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
KDR-related disorder
GLikely benign
KDR
(Q1149E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
Carcinoma of colon
GUncertain significance
KDR
(P1147S)
Single nucleotide variant
(missense variant)
Capillary infantile hemangioma
GPathogenic
KDR
Single nucleotide variant
(intron variant)
Carcinoma of colon
GUncertain significance
KDR
(G1092R)
Single nucleotide variant
(missense variant)
KDR-related disorder
GUncertain significance
KDR
(D1064N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KDR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KDR
(L1002F)
Single nucleotide variant
(missense variant)
Capillary infantile hemangioma
GUncertain significance
KDR
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
KDR-related disorder
GLikely benign
KDR
Single nucleotide variant
(synonymous variant)
KDR-related disorder
GLikely benign
KDR
(I915V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KDR
(K907N)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
KDR
(L902Q)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
Carcinoma of colon
GUncertain significance
KDR
(I892V)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
KDR
(L886I)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
KDR
(H876R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(intron variant)
Carcinoma of colon
GUncertain significance
KDR
Single nucleotide variant
(splice donor variant)
Tetralogy of Fallot
GLikely pathogenic
KDR
Single nucleotide variant
(synonymous variant)
Carcinoma of colon
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDR
(E850A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
Carcinoma of colon
GUncertain significance
KDR
(R842H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KDR
Deletion
(intron variant)
Carcinoma of colon
GUncertain significance
KDR
Single nucleotide variant
(intron variant)
Carcinoma of colon
GUncertain significance
KDR
(D832H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(D809E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(G795R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(G794R)
Single nucleotide variant
(missense variant)
Carcinoma of colon
GUncertain significance
KDR
(A792T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(R787Q)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
KDR
(T771M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KDR
(V769I)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
KDR
(I767T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(A757G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
KDR
(I753K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(V748G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
KDR
(R728G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(N693T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(T689M)
Single nucleotide variant
(missense variant)
not provided
GBenign
KDR
(E682K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(E674D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KDR
(G671E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KDR
Single nucleotide variant
(intron variant)
not specified
Gnot provided
KDR
(T660A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(A644T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KDR
(D607H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(P590S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KDR
(T582R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(S566N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(D558E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(V547M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KDR
(R541W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KDR
(G539E)
Single nucleotide variant
(missense variant)
Capillary infantile hemangioma
GUncertain significance
KDR
(G539R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KDR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KDR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDR
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KDR
Single nucleotide variant
(intron variant)
KDR-related disorder
GLikely benign
KDR
(E498V)
Single nucleotide variant
(missense variant)
not specified
Gnot provided
KDR
(C482R)
Single nucleotide variant
(missense variant)
Capillary infantile hemangioma
+1 more
GLikely benign
KDR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDR
(A473D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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