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Items: 1 to 100 of 145

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123775388, LOC123775389
+1449 more
Copy number gain
See cases
GPathogenic
ME1, MEI4
+299 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
LOC121132696, LOC129996771
+2 more
Copy number loss
See cases
GUncertain significance
TBX18
Single nucleotide variant
not provided
GLikely benign
TBX18
(M606V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
(H605Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(Q601R)
Single nucleotide variant
(missense variant)
Congenital anomaly of kidney and urinary tract
GLikely pathogenic
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(G581W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(S580T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
(Q567H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(R566Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(F554S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(A542V)
Single nucleotide variant
(missense variant)
TBX18-related condition
GUncertain significance
TBX18
(S537C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(H524Y)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract 2
GPathogenic
TBX18
(T520A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBX18
(N519S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
(A509V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(Q495K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(S493fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(T464P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(S463G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(V460M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(P455R)
Single nucleotide variant
(missense variant)
TBX18-related condition
GUncertain significance
TBX18
(R440T)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(Y430C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(R429*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
TBX18
(R422H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBX18
(A415T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBX18
(G403A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
(H401R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
TBX18
(A384S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBX18
(V382I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(T373I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBX18
(S370T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(N368S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(N368H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBX18
Deletion
(intron variant)
not provided
GLikely benign
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBX18
(R349Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBX18
(R349*)
Single nucleotide variant
(nonsense)
Congenital anomalies of kidney and urinary tract 2
GPathogenic
TBX18
(S344A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(A340V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(G337fs)
Deletion
(frameshift variant)
Congenital anomaly of kidney and urinary tract
+1 more
GPathogenic/Likely pathogenic
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Duplication
(intron variant)
not provided
GBenign
TBX18
Deletion
(intron variant)
not provided
GLikely benign
TBX18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(R316H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Insertion
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TBX18
(G290R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TBX18
(D280N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBX18
(D279G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(R274L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(R274H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(V272I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBX18
(M263T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(F242L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
(E233fs)
Insertion
(frameshift variant)
Congenital anomalies of kidney and urinary tract 2
GPathogenic
TBX18
(R221H)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract 2
GUncertain significance
TBX18
(P220T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBX18
(N213H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBX18
(V192L)
Single nucleotide variant
(missense variant)
Chronic kidney disease
+1 more
GUncertain significance
TBX18
(Q184R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
(R167H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(intron variant)
not provided
GBenign
TBX18
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TBX18
(K163E)
Single nucleotide variant
(missense variant)
Congenital anomalies of kidney and urinary tract 2
GPathogenic
TBX18
(G156V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBX18
(I155T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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