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Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
ALPL, C1QA
+60 more
Copy number loss
See cases
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(V345M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
WNT4-related condition
GLikely benign
WNT4
(R343Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
(R339Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(V336I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(Q319H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(F315C)
Single nucleotide variant
(missense variant)
Mayer-Rokitansky-Kuster-Hauser syndrome
+2 more
GUncertain significance
WNT4
(G314S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(R313H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(D304N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
Mullerian aplasia and hyperandrogenism
+2 more
GBenign/Likely benign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
WNT4
(N297T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(R294H)
Single nucleotide variant
(missense variant)
Mullerian aplasia and hyperandrogenism
GUncertain significance
WNT4
(R292T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(G287S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
(R285H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(D267E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
WNT4
(D267N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(V256M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
(R247C)
Single nucleotide variant
(missense variant)
SERKAL syndrome
+1 more
GUncertain significance
WNT4
(A223T)
Single nucleotide variant
(missense variant)
WNT4-related condition
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(E216G)
Single nucleotide variant
(missense variant)
Mullerian aplasia and hyperandrogenism
GPathogenic
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT4
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT4
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT4
Duplication
(intron variant)
not provided
GBenign
WNT4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
WNT4
(N187K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(M186V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
WNT4-related condition
+1 more
GBenign/Likely benign
WNT4
(S180L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT4
(Q148R)
Single nucleotide variant
(missense variant)
not provided
GBenign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(C128Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(S116P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(I115T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(A114V)
Single nucleotide variant
(missense variant)
SERKAL syndrome
GPathogenic
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(R107Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(intron variant)
not provided
GBenign
WNT4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(intron variant)
WNT4-related condition
+1 more
GLikely benign
WNT4
(G99S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WNT4
(V97I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(D93V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(D93N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(R83W)
Single nucleotide variant
(missense variant)
Mullerian aplasia and hyperandrogenism
GPathogenic
WNT4
(Y80H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(R68H)
Single nucleotide variant
(missense variant)
WNT4-related condition
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
(R59Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(Q55P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
(C43Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
WNT4-related condition
GLikely benign
WNT4
(E40Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
WNT4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WNT4
Deletion
(intron variant)
not provided
GBenign
WNT4
(L12P)
Single nucleotide variant
(missense variant)
Mullerian aplasia and hyperandrogenism
GPathogenic
WNT4
(S9A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WNT4
Duplication
(5 prime UTR variant)
WNT4-related condition
GLikely benign
ACTL8, AKR7A2
+65 more
Copy number gain
not provided
GLikely pathogenic
KIF17, LDLRAD2
+49 more
Duplication
Congenital disorder of glycosylation type Ir
+2 more
GUncertain significance
AKR7A2, AKR7A3
+77 more
Duplication
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
FAM43B, HP1BP3
+77 more
Copy number loss
1p36.1 deletion syndrome
GPathogenic
CDC42, WNT4
Copy number gain
not provided
GUncertain significance
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
ACTL8, AKR7A2
+88 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
C1orf159, C1orf167
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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