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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARGE1
(E753K +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
LARGE1
(R665H +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARGE1
(P659L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LARGE1
(R650Q +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
LARGE1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
LARGE1
Single nucleotide variant
(synonymous variant +1 more)
LARGE1-related condition
+4 more
GConflicting classifications of pathogenicity
LARGE1
(M592I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
LARGE1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
LARGE1
(M569V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LARGE1
(R526H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LARGE1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
LARGE1
(V474I +3 more)
Single nucleotide variant
(missense variant)
LARGE1-related condition
+5 more
GConflicting classifications of pathogenicity
LARGE1
(R450H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LARGE1
(K385R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LARGE1
Single nucleotide variant
(intron variant)
LARGE1-related condition
+2 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARGE1
(Q368* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LARGE1
(R365H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
LARGE1-related condition
+4 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
LARGE1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LARGE1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LARGE1
(V131I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LARGE1
(E112K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
LARGE1
(S84T)
Single nucleotide variant
(missense variant)
LARGE1-related condition
+4 more
GBenign/Likely benign
LARGE1
(E71K)
Single nucleotide variant
(missense variant)
Muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARGE1
(R60Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(V40M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LARGE1
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign/Likely benign
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