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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHS
(R17W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NHS
(A51V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NHS
(P73del)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NHS
(P71S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NHS
Duplication
(inframe_insertion)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NHS
(R134fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NHS
(R134H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NHS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NHS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NHS
Duplication
(intron variant)
Cataract 40
+3 more
GBenign/Likely benign
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NHS
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NHS
(E276G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NHS
(W318* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NHS
(G349R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NHS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NHS
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NHS
(R371Q +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
+2 more
GConflicting classifications of pathogenicity
NHS
(R217* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NHS
(G422R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NHS
(V514M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NHS
(P551S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NHS
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NHS
(A724V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHS
(F756S +3 more)
Single nucleotide variant
(missense variant)
NHS-related condition
+2 more
GBenign/Likely benign
NHS
(G762E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHS
(A844T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NHS
(G878fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
NHS
(H923L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
NHS
(V953A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NHS
(H1083Y +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NHS
(S1104L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NHS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NHS
(T1151M +3 more)
Single nucleotide variant
(missense variant)
Nance-Horan syndrome
+1 more
GUncertain significance
NHS
(P1161L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
NHS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NHS
(G1289V +3 more)
Single nucleotide variant
(missense variant)
NHS-related condition
+2 more
GBenign/Likely benign
NHS
(F1319L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
NHS
Duplication
(inframe_insertion)
not specified
+2 more
GConflicting classifications of pathogenicity
NHS
(S1535T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
NHS
(T1574P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NHS
(S1590T +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
NHS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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