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Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
+1 more
GBenign
CELSR1
(P2983A)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
+1 more
GBenign
CELSR1
Deletion
(inframe_deletion)
not provided
+1 more
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
(S2964L)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
+1 more
GBenign
CELSR1
(G2948S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CELSR1
(E2903Q)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
(S2825L)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GUncertain significance
CELSR1
(C2797S)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
(S2761L)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
+1 more
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
(R2709G)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GLikely benign
CELSR1
(V2703M)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
+1 more
GBenign
CELSR1
Single nucleotide variant
(intron variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
(L2654P)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GUncertain significance
CELSR1
Single nucleotide variant
(intron variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1, LOC121627952
Single nucleotide variant
(intron variant)
CELSR1-related disorder
GBenign
CELSR1, LOC121627952
(N2523S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CELSR1, LOC121627952
(F2518L)
Single nucleotide variant
(missense variant)
Lymphatic malformation 9
+2 more
GBenign/Likely benign
CELSR1, LOC121627952
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
+1 more
GBenign/Likely benign
CELSR1, LOC121627952
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
+1 more
GLikely benign
CELSR1, LOC121627952
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
+1 more
GBenign/Likely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
+1 more
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
(K2294del)
Deletion
(inframe deletion)
CELSR1-related disorder
GUncertain significance
CELSR1
(E2293K)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
+1 more
GBenign/Likely benign
CELSR1
(T2268A)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1, LOC126863169
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1, LOC126863169
(R2219H)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
(I2107V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(intron variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
(L1995P)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
(L1994P)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(intron variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GUncertain significance
CELSR1
Single nucleotide variant
(intron variant)
CELSR1-related disorder
+1 more
GBenign/Likely benign
CELSR1
(N1884S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CELSR1
(R1643Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
(V1518F)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(intron variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
(G1415R)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GLikely benign
CELSR1, LOC126863170
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1, LOC126863170
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1, LOC126863170
(T1362M)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GUncertain significance
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CELSR1
(V1242I)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
+1 more
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CELSR1
(T977I)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
(V779I)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
(A773V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GBenign
CELSR1
(I587V)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
+1 more
GBenign
CELSR1
(L556V)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GBenign
CELSR1
(S533I)
Single nucleotide variant
(missense variant)
CELSR1-related disorder
GUncertain significance
CELSR1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CELSR1
Single nucleotide variant
(synonymous variant)
CELSR1-related disorder
GLikely benign
CELSR1
(T346S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
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