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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, GH1
(I205M +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(L183F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GH-LCR, GH1
(V136I +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(A124T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GH-LCR, GH1
(S121R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
GH-LCR, GH1
(N73D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GH1, GH-LCR
(F51Y)
Single nucleotide variant
(missense variant)
GH1-related condition
+4 more
GBenign/Likely benign
GH1, GH-LCR
Single nucleotide variant
(synonymous variant)
GH1-related condition
+3 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(A39V)
Single nucleotide variant
(missense variant)
not specified
+7 more
GBenign/Likely benign
GH1, GH-LCR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
GH1-related condition
+2 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(T3A)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Hyperkalemic periodic paralysis
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(S1789L)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Paramyotonia congenita of Von Eulenburg
+6 more
GBenign
GH-LCR, SCN4A
(V1564I)
Single nucleotide variant
(missense variant)
SCN4A-related condition
+7 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
Paramyotonia congenita of Von Eulenburg
+6 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(R1448C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
GH-LCR, SCN4A
(N1376D)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
GH-LCR, SCN4A
(G1306A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(F1298C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(R1129Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
GH-LCR, SCN4A
(D1069N)
Single nucleotide variant
(missense variant)
Hyperkalemic periodic paralysis
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(T937P)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+2 more
GUncertain significance
GH-LCR, SCN4A
(N916K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(E908K)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(S906T)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
+6 more
GBenign/Likely benign
SCN4A, GH-LCR
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
SCN4A-related condition
+6 more
GConflicting classifications of pathogenicity
GH-LCR, SCN4A
(V781I)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
GH-LCR, SCN4A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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