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Items: 1 to 100 of 272

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
ADO, ANK3
+227 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
BICC1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
BICC1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(Y9F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(A11G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(S14L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BICC1
(P16T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(E32fs)
Deletion
(frameshift variant)
Renal dysplasia, cystic, susceptibility to
GPathogenic
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(S43R)
Single nucleotide variant
(missense variant)
Renal dysplasia, cystic, susceptibility to
GUncertain significance
BICC1
(P44L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
BICC1
(W46C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(M61V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Microsatellite
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Duplication
(intron variant)
not provided
GLikely benign
BICC1
(Q87*)
Single nucleotide variant
(nonsense)
Renal dysplasia, cystic, susceptibility to
Grisk factor
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(M123I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
Single nucleotide variant
(splice donor variant)
Renal agenesis
GLikely pathogenic
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
(M137V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(G163R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
(P169R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(I185V)
Single nucleotide variant
(missense variant)
not provided
GBenign
BICC1
Single nucleotide variant
(splice donor variant)
Renal dysplasia, cystic, susceptibility to
GUncertain significance
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
(V206M)
Single nucleotide variant
(missense variant)
not provided
GBenign
BICC1
(I213V)
Single nucleotide variant
(missense variant)
not provided
GBenign
BICC1
(P219L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(P223T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
(N236H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BICC1
(N236T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(N236S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BICC1
(R246*)
Single nucleotide variant
(nonsense)
Renal dysplasia, cystic, susceptibility to
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(N259D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BICC1
(V264L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
Single nucleotide variant
(intron variant)
not provided
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
(A276S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BICC1
(Q288L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(L297P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(R302Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
(M311I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
(R313G)
Single nucleotide variant
(missense variant)
Renal dysplasia, cystic, susceptibility to
GUncertain significance
BICC1
(P323R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
(N325S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(T331A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(V332I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(Q335H)
Single nucleotide variant
(missense variant)
Congenital anomaly of kidney and urinary tract
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
Renal dysplasia, cystic, susceptibility to
+1 more
GBenign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
BICC1
(A372V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BICC1
(S383T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
BICC1
(I384V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BICC1
(K385T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BICC1
Single nucleotide variant
(splice donor variant)
Renal dysplasia, cystic, susceptibility to
GLikely pathogenic
BICC1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
BICC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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