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Items: 1 to 100 of 283

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMA5
(P3693L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GBenign
LAMA5
(G3685R)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+2 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(T3678S)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LAMA5
(A3609S)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+1 more
GBenign
LAMA5
(R3607Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(R3596G)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
(G3586R)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
(D3585Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LAMA5
(R3582Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
(R3582W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMA5
(R3565W)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
(Q3563R)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+1 more
GBenign/Likely benign
LAMA5
(M3507I)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
(R3506W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMA5
(V3485I)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMA5
(R3454Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
LAMA5
(R3445W)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
+1 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
(R3413H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(V3276I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
GLikely benign
LAMA5
(V3267M)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(L3245F)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+1 more
GBenign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
(E3239V)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
(T3211M)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
+1 more
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
(T3126I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
(G3114S)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Deletion
(intron variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMA5
(D3071N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(Q3053E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(S3022L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
(V3012I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA5
(Y3002H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
(R2953H)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GBenign
LAMA5
(G2948S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAMA5
(T2923M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
(P2889S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMA5
(H2841Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(R2751W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
LAMA5
(R2748H)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
(R2748C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
(V2719M)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GUncertain significance
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LAMA5
Single nucleotide variant
(intron variant)
LAMA5-related disorder
+1 more
GBenign
LAMA5
Single nucleotide variant
(synonymous variant)
LAMA5-related disorder
GLikely benign
LAMA5
(A2643V)
Single nucleotide variant
(missense variant)
LAMA5-related disorder
GBenign
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