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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CELSR3
(G3100A)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(R2920W)
Single nucleotide variant
(missense variant)
See cases
GLikely benign
CELSR3
(T2827N)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(G2667S)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(E2501K)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(R2475W)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(I2409del)
Deletion
(inframe_deletion)
See cases
GUncertain significance
CELSR3
(P2359S)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(V2320A)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(A2102T)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(H1687Y)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(P1345L)
Single nucleotide variant
(missense variant)
See cases
GLikely benign
CELSR3
(R1238C)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
CELSR3
(R1048W)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract 1
GLikely pathogenic
CELSR3
(E1034Q)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract 1
GLikely pathogenic
CELSR3
(R525H)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
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