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Items: 1 to 100 of 300

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL23, KLHL41
+488 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935258, LOC129935259
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
CCDC141, CERKL
+104 more
Copy number loss
See cases
GPathogenic
LOC129935413, LOC129935414
+1097 more
Copy number gain
See cases
GPathogenic
CALCRL, CALCRL-AS1
+88 more
Copy number loss
See cases
GPathogenic
CERKL, ITGA4
+20 more
Copy number loss
See cases
GPathogenic
CERKL, ITGA4
+13 more
Deletion
Retinitis pigmentosa
GLikely pathogenic
NEUROD1
Single nucleotide variant
(genic downstream transcript variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(genic downstream transcript variant)
Maturity-onset diabetes of the young type 6
GBenign
NEUROD1
Single nucleotide variant
(genic downstream transcript variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(genic downstream transcript variant)
Maturity-onset diabetes of the young type 6
GLikely benign
NEUROD1
Single nucleotide variant
(genic downstream transcript variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(genic downstream transcript variant)
Maturity-onset diabetes of the young type 6
GBenign
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GBenign
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GLikely benign
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Duplication
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Duplication
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Duplication
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Deletion
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Duplication
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Deletion
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Insertion
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Deletion
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GLikely benign
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
+1 more
GBenign
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 6
+1 more
GLikely benign
NEUROD1
(D356G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(H355Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(F354Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(A352V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NEUROD1
(A352D)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 6
+2 more
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
NEUROD1
(A348V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEUROD1
(S347I)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
NEUROD1-related condition
+1 more
GLikely benign
NEUROD1
(V345L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(R344Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NEUROD1
(H342N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(H341R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(S338N)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
(S338T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(M334I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(D331E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
(I330M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
(I330T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(I328V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(C326*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(R325S)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 6
+1 more
GConflicting classifications of pathogenicity
NEUROD1
(A323P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(A322N)
Indel
(missense variant)
not provided
GUncertain significance
NEUROD1
(A322T)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(S319L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(G315V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(G315A)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
NEUROD1-related condition
GLikely benign
NEUROD1
(Q312R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(A311S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(A311fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
NEUROD1
(A311T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(A306V)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+2 more
GUncertain significance
NEUROD1
(Y303C)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
(H302R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(E294G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(S290P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(E288V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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