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Items: 1 to 100 of 1551

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
APBB1, ARFIP2
+41 more
Copy number gain
See cases
GPathogenic
DCHS1
Microsatellite
(3 prime UTR variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
DCHS1
(E3295D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(E3295Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(T3294M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(G3287C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(A3284T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(L3282V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DCHS1
(A3281S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(S3280L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(Q3275R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(V3267I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(P3266L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
DCHS1
(S3265L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(R3264H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(R3264C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DCHS1
(A3263T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DCHS1
(S3257C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(S3253R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(M3250T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(M3250L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(A3249V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(A3249P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(G3243A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DCHS1
(P3238R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(S3237P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DCHS1
(R3236H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DCHS1
(R3236C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(S3234F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(P3232A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(A3228V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(R3227Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(R3227W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(A3225E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(N3222D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(A3221T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(P3218H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(T3206I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DCHS1
(I3199V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DCHS1
(R3198H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(P3194S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(P3195fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(R3185Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DCHS1
(R3185W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(S3178N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(Q3172L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DCHS1
(C3170S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(W3169*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DCHS1
(D3164Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(Y3161S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(R3158H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(G3153S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(I3150T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(I3150V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(T3148I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(A3146S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(G3145D)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(P3141L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(K3140Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(A3116G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(P3112fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(E3110Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(E3109Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DCHS1
(R3093Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DCHS1
(Y3090F)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
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