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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+54 more
Copy number loss
See cases
GPathogenic
ADARB2, ADARB2-AS1
+276 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
LOC132090805, MANCR
+482 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+66 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+71 more
Copy number loss
See cases
GLikely pathogenic
LOC130003153, LOC130003154
+421 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+298 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+352 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+86 more
Copy number loss
See cases
GUncertain significance
ADARB2, GTPBP4
+27 more
Copy number gain
See cases
GUncertain significance
ADARB2, GTPBP4
+25 more
Copy number gain
See cases
GUncertain significance
ADARB2, ADARB2-AS1
+37 more
Copy number gain
See cases
GLikely benign
WDR37
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WDR37
(S9L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(R18C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(R27G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(R35K)
Single nucleotide variant
(missense variant)
WDR37-related disorder
GUncertain significance
WDR37
Single nucleotide variant
(synonymous variant)
WDR37-related disorder
GLikely benign
WDR37
Single nucleotide variant
(intron variant)
WDR37-related disorder
GLikely benign
WDR37
(S53L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(L59V)
Single nucleotide variant
(missense variant)
WDR37-related disorder
GUncertain significance
WDR37
(N71S)
Single nucleotide variant
(missense variant)
not provided
GBenign
WDR37
(D84N)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
WDR37
(K104R)
Single nucleotide variant
(missense variant)
WDR37-related disorder
GUncertain significance
WDR37
(T109A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(T115I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR37
(S119F)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
+6 more
GPathogenic/Likely pathogenic
WDR37
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WDR37
(T125A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
WDR37
(T125I)
Single nucleotide variant
(missense variant)
Congenital cerebellar hypoplasia
+6 more
GPathogenic/Likely pathogenic
WDR37
(S129C)
Single nucleotide variant
(missense variant)
Epilepsy
+5 more
GLikely pathogenic
WDR37
(T130I)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
+7 more
GPathogenic/Likely pathogenic
WDR37
(S136C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
WDR37
(T140M)
Single nucleotide variant
(missense variant)
WDR37-related disorder
GUncertain significance
WDR37
Single nucleotide variant
(synonymous variant)
WDR37-related disorder
GLikely benign
WDR37
(V162G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
(A165T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(A175S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WDR37
(T180M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
WDR37
(G189E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860809, WDR37
(D220G)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GLikely pathogenic
LOC126860809, WDR37
(A229V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC126860809, WDR37
(L232V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860809, WDR37
(T241A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126860809, WDR37
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
WDR37
Microsatellite
(intron variant)
Neurooculocardiogenitourinary syndrome
GLikely pathogenic
WDR37
(D247G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
(P257H)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GUncertain significance
WDR37
(L259V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
(D260N)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GLikely pathogenic
WDR37
(C267S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
(T269A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(I270L)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GUncertain significance
WDR37
(I270V)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GUncertain significance
WDR37
(L277F)
Single nucleotide variant
(missense variant)
WDR37-related disorder
GUncertain significance
WDR37
(V284F)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GUncertain significance
WDR37
(A286T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
(V291A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
(K294M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(L307P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WDR37
(V310M)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GUncertain significance
WDR37
(T312S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR37
(V316I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
Single nucleotide variant
(synonymous variant)
WDR37-related disorder
GLikely benign
WDR37
(Q324R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
Single nucleotide variant
(synonymous variant)
WDR37-related disorder
GLikely benign
WDR37
(H358P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WDR37
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
WDR37
(N380S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
Single nucleotide variant
(synonymous variant)
WDR37-related disorder
GLikely benign
WDR37
(D386Y)
Single nucleotide variant
(missense variant)
WDR37-related disorder
GUncertain significance
WDR37
(T389M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WDR37
(R406H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
Single nucleotide variant
(intron variant)
WDR37-related disorder
GLikely benign
WDR37
(N415S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
(G419S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
(Q420H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(R447W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(M456T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR37
(A461S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
WDR37
Single nucleotide variant
(synonymous variant)
WDR37-related disorder
GLikely benign
WDR37
(H466Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(G482R)
Single nucleotide variant
(missense variant)
Neurooculocardiogenitourinary syndrome
GUncertain significance
WDR37
(G482A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
WDR37
(Q492*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
ADARB2, DIP2C
+6 more
Copy number loss
See cases
GPathogenic
ADARB2, WDR37
Copy number gain
not provided
GUncertain significance
ADARB2, WDR37
Copy number gain
not provided
GUncertain significance
ADARB2, GTPBP4
+3 more
Copy number gain
not provided
GUncertain significance
ADARB2, DIP2C
+5 more
Copy number gain
not provided
GUncertain significance
ADARB2, WDR37
Copy number gain
not provided
GUncertain significance
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