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Items: 1 to 100 of 306

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEUROD1
Single nucleotide variant
(synonymous variant)
NEUROD1-related disorder
GLikely benign
NEUROD1
(V166F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEUROD1
(G85D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(A322D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NEUROD1
(D270G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(R193Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(P204L)
Single nucleotide variant
(missense variant)
NEUROD1-related disorder
GUncertain significance
NEUROD1
(M114K)
Single nucleotide variant
(missense variant)
NEUROD1-related disorder
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
NEUROD1-related disorder
GLikely benign
NEUROD1
Single nucleotide variant
(synonymous variant)
NEUROD1-related disorder
GLikely benign
NEUROD1
(D78H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
(Y219C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
(P255L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GLikely pathogenic
NEUROD1
(I330M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
(D331E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
(S338N)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(A185V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(D31E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(N182S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(P205H)
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
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(S220Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(C326*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NEUROD1
(K39del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
NEUROD1
(F195L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(G116R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(R144L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(V242F)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(E59K)
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
(E294G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(G9R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(T23R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(D61E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(E258K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(S177Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(E288V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(E73*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NEUROD1
(R113C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CERKL, ITGA4
+2 more
Deletion
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(S290P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(A311S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(S347I)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 6
GUncertain significance
NEUROD1
(G57A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEUROD1
(S211R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(Y5C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(P218R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(H341R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(S319L)
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
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(A252T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(S21G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(E141K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(S154W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(D164N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(G175R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(S220A)
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
(A311fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
NEUROD1
(D202N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(N47H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(L207P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(Q199R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(K87N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(P20A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(K87Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEUROD1
(E288K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(P215L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(L261V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(L10P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(M334I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(P86L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(M104T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(H238Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(E70Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(R95L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(Q79R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NEUROD1
(G85S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(K243N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
(Q312R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEUROD1
Single nucleotide variant
(3 prime UTR variant)
Type 2 diabetes mellitus
+1 more
GLikely benign

Items: 1 to 100 of 306

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