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Links from MedGen

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMER1
Deletion
(nonsense)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(Y526fs)
Deletion
(frameshift variant)
Osteopathia striata with cranial sclerosis
GLikely pathogenic
AMER1
(G369fs)
Duplication
(frameshift variant)
Osteopathia striata with cranial sclerosis
GLikely pathogenic
AMER1
(R1089T)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(R358Q)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(S17C)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(Q1096*)
Single nucleotide variant
(nonsense)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(S359T)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(S1004P)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(L487Q)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(S1123R)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(P959T)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(M1044V)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
+1 more
GUncertain significance
AMER1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AMER1
(A962T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMER1
(E334*)
Single nucleotide variant
(nonsense)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(F60fs)
Deletion
(frameshift variant)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(M57I)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(T24I)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(S1110T)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(C788Y)
Single nucleotide variant
(missense variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
Single nucleotide variant
(synonymous variant)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1, LOC130068367
+1 more
Deletion
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1, LOC130068366
+1 more
Deletion
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
Deletion
(frameshift variant)
Osteopathia striata with cranial sclerosis
GPathogenic
MTMR8, ARHGEF9
+2 more
Deletion
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
Deletion
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(S683*)
Single nucleotide variant
(nonsense)
Osteopathia striata with cranial sclerosis
GUncertain significance
AMER1
(R497*)
Single nucleotide variant
(nonsense)
Osteopathia striata with cranial sclerosis
+1 more
GPathogenic/Likely pathogenic
AMER1
(E462fs)
Deletion
(frameshift variant)
Osteopathia striata with cranial sclerosis
GLikely pathogenic
AMER1
(P248T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
AMER1
(H134P)
Single nucleotide variant
(missense variant)
AMER1-related condition
+2 more
GBenign/Likely benign
AMER1
(S677P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AMER1
Single nucleotide variant
(synonymous variant)
AMER1-related condition
+2 more
GBenign/Likely benign
AMER1
(Q189*)
Single nucleotide variant
(nonsense)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(E219fs)
Deletion
(frameshift variant)
Osteopathia striata with cranial sclerosis
GLikely pathogenic
AMER1
(A29T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMER1
(Y599C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
AMER1
(Q271*)
Single nucleotide variant
(nonsense)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(L423fs)
Deletion
(frameshift variant)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(C143*)
Single nucleotide variant
(nonsense)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(R358*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
AMER1
(R353*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AMER1, ARHGEF9
+36 more
Deletion
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(P261fs)
Duplication
(frameshift variant)
Osteopathia striata with cranial sclerosis
GPathogenic
AMER1
(P224fs)
Deletion
(frameshift variant)
Osteopathia striata with cranial sclerosis
GPathogenic
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