U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 151

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA1
(P1018S)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
Indel
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(D2874fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
Single nucleotide variant
(splice acceptor variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(W2387*)
Single nucleotide variant
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(C397fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(E1704fs)
Duplication
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(L1958R)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(P81Q)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(A1724D)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
(S1901fs)
Duplication
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(S404Y)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(R1391fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(V360fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
Indel
(frameshift variant)
not provided
+1 more
GPathogenic
LAMA1
(L1746fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(Q551H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA1
(A2761V)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(T1691A)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(A3023D)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(P712L)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
Single nucleotide variant
(synonymous variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(T2049A)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(S960L)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(V2477A)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(L2942P)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(G1572fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(G2535S)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(Q2112fs)
Duplication
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(F3054L)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
Single nucleotide variant
(splice donor variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(K978fs)
Indel
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
Single nucleotide variant
(splice donor variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(D2405N)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GConflicting classifications of pathogenicity
LAMA1
(Y1588fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
Single nucleotide variant
(splice acceptor variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(D2379V)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
(V1342L)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(R256H)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(S2337fs)
Duplication
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic/Likely pathogenic
LAMA1
(R1307*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LAMA1
(R162H)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
(R139C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA1
(G775S)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+2 more
GUncertain significance
LAMA1
(G1227R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA1
(K897R)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
Single nucleotide variant
(splice donor variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(W827*)
Single nucleotide variant
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
Single nucleotide variant
(synonymous variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LAMA1
(R2921*)
Single nucleotide variant
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GPathogenic/Likely pathogenic
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA1
(K2002E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LAMA1
(I2076T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
Single nucleotide variant
(synonymous variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
(A1763V)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GBenign
LAMA1
(C427*)
Single nucleotide variant
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(Y988fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(Q94R)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(P1018fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(I165fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(D2913fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GPathogenic/Likely pathogenic
LAMA1
(I136T)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(Q2890*)
Single nucleotide variant
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(S2017F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA1
(P1402S)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GConflicting classifications of pathogenicity
LAMA1
(I124T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA1
(N952K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMA1
(T621I)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(G616R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA1
(S2260Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA1
(S2186Y)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(K2010R)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(I1909T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
(R1862G)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
(G1519R)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GConflicting classifications of pathogenicity
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
Single nucleotide variant
(intron variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(Q1064P)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GUncertain significance
LAMA1
(P842S)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GUncertain significance
LAMA1
(P540L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LAMA1
(M2755V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMA1
(R2396Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMA1
(R2394Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination