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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HERC1
(W3720*)
Single nucleotide variant
(nonsense)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GPathogenic
HERC1
(Y115F)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
Single nucleotide variant
(splice donor variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GLikely pathogenic
HERC1
(L10V)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(K3439E)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(Q4385fs)
Deletion
(frameshift variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GLikely pathogenic
HERC1
(Q4132*)
Single nucleotide variant
(nonsense)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(V1981I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
HERC1
(N2047S)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GUncertain significance
HERC1
(R1397C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HERC1
(L1645F)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(A3045V)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(T2105S)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(L4565F)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(I193V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
HERC1
(S4631N)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GUncertain significance
HERC1
Single nucleotide variant
(synonymous variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GBenign
HERC1
Single nucleotide variant
(intron variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GBenign
HERC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HERC1
(G1696A)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GBenign
HERC1
Single nucleotide variant
(synonymous variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GBenign
HERC1
(I2220V)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GBenign
HERC1
Single nucleotide variant
(synonymous variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GBenign
HERC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HERC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HERC1
(E3722D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
HERC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HERC1
(A663G)
Single nucleotide variant
(missense variant)
HERC1-related disorder
+2 more
GBenign/Likely benign
HERC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
HERC1
(T3693I)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(S2363L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HERC1
(K1544R)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+2 more
GConflicting classifications of pathogenicity
HERC1
(C1192R)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+3 more
GUncertain significance
HERC1
(K618T)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(G4101D)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(S3810A)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(R3580Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HERC1
(N3300K)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(V3147I)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+2 more
GConflicting classifications of pathogenicity
HERC1
(R2873C)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GUncertain significance
HERC1
(L2317I)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(P2037A)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(E1982K)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(Y1212F)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(R3744W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HERC1
Single nucleotide variant
(intron variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(Q3290R)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GUncertain significance
HERC1
(R4691P)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GPathogenic
HERC1
(M1616R)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GUncertain significance
HERC1
(V3803I)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GUncertain significance
ERC1
(L1013fs +1 more)
Duplication
(frameshift variant +1 more)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GLikely pathogenic
HERC1
Single nucleotide variant
(synonymous variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GConflicting classifications of pathogenicity
HERC1
Single nucleotide variant
(intron variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+1 more
GLikely benign
HERC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
HERC1
Single nucleotide variant
(synonymous variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
+2 more
GLikely benign
HERC1
Single nucleotide variant
(intron variant)
HERC1-related disorder
+1 more
GConflicting classifications of pathogenicity
HERC1
(G1125D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
HERC1
(A2539T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
HERC1
(G4520E)
Single nucleotide variant
(missense variant)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GPathogenic
HERC1
(W875*)
Single nucleotide variant
(nonsense)
Macrocephaly, dysmorphic facies, and psychomotor retardation
GPathogenic
HERC1
Single nucleotide variant
(splice acceptor variant)
Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability
GLikely pathogenic
HERC1
(R3250*)
Single nucleotide variant
(nonsense)
Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability
GPathogenic
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