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Items: 1 to 100 of 34039

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN
(A375S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
AGRN
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 8
+1 more
GConflicting classifications of pathogenicity
AGRN
(T769M +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+1 more
GUncertain significance
AGRN
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 8
+2 more
GBenign/Likely benign
AGRN
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
AGRN
(H2025R +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
+4 more
GBenign/Likely benign
B3GALT6
(L26P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+2 more
GConflicting classifications of pathogenicity
B3GALT6
(G196V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GConflicting classifications of pathogenicity
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+3 more
GConflicting classifications of pathogenicity
B3GALT6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
B3GALT6
(D285N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+3 more
GBenign/Likely benign
TMEM240
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
GNB1
(G116S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SKI
(D305E)
Single nucleotide variant
(missense variant)
Shprintzen-Goldberg syndrome
+1 more
GUncertain significance
SKI
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SKI
Single nucleotide variant
(synonymous variant)
SKI-related condition
+4 more
GBenign/Likely benign
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SKI
Single nucleotide variant
(synonymous variant)
Shprintzen-Goldberg syndrome
+3 more
GConflicting classifications of pathogenicity
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
PEX10
(R343W +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PEX10
(R331Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(intron variant)
PEX10-related condition
+2 more
GConflicting classifications of pathogenicity
PEX10
(A319V +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX10
(E299* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PEX10
(T294A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
PEX10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX10
(L272fs +4 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+4 more
GPathogenic
PEX10
(P291L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
PEX10
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX10
(G274fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PEX10
(K267R +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+3 more
GUncertain significance
PEX10
(G258R +4 more)
Single nucleotide variant
(missense variant +1 more)
PEX10-related condition
+4 more
GConflicting classifications of pathogenicity
PEX10
(L236fs +4 more)
Duplication
(frameshift variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+4 more
GPathogenic
PEX10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PEX10
(R224H +4 more)
Single nucleotide variant
(missense variant +1 more)
PEX10-related condition
+3 more
GConflicting classifications of pathogenicity
PEX10
(M212V +2 more)
Single nucleotide variant
(missense variant +1 more)
PEX10-related condition
+3 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(intron variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GConflicting classifications of pathogenicity
PEX10
(L195F +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GUncertain significance
PEX10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX10
(R176Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PEX10
(R162W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PEX10
(R143C)
Single nucleotide variant
(missense variant +2 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GUncertain significance
PEX10
(R142Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX10
(G140R)
Single nucleotide variant
(missense variant +2 more)
PEX10-related condition
+5 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(synonymous variant +2 more)
PEX10-related condition
+2 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(synonymous variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX10
(H99fs)
Deletion
(5 prime UTR variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PEX10
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PEX10
(S89W)
Single nucleotide variant
(5 prime UTR variant +2 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GUncertain significance
PEX10
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder, complementation group 7
+3 more
GConflicting classifications of pathogenicity
PEX10
(A39V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PEX10
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(synonymous variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+3 more
GBenign/Likely benign
PRDM16
(R582H)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP4
(F1393L +2 more)
Single nucleotide variant
(missense variant +1 more)
NPHP4-related condition
+4 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP4
(R1373Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
NPHP4-related condition
+2 more
GConflicting classifications of pathogenicity
NPHP4
(G1345D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
NPHP4
(I1336V +2 more)
Single nucleotide variant
(missense variant +1 more)
NPHP4-related condition
+2 more
GUncertain significance
NPHP4
(P1328L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
NPHP4-related condition
+1 more
GConflicting classifications of pathogenicity
NPHP4
(H1304R +2 more)
Single nucleotide variant
(missense variant +1 more)
NPHP4-related condition
+5 more
GConflicting classifications of pathogenicity
NPHP4
(S1300N +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(Q1287E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
NPHP4
(G1285R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
NPHP4
(R1284H +2 more)
Single nucleotide variant
(missense variant +1 more)
NPHP4-related condition
+2 more
GConflicting classifications of pathogenicity
NPHP4
(R1284C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
NPHP4
(E1270D +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
NPHP4
(R1253Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP4
(L1252F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis 4
+4 more
GConflicting classifications of pathogenicity
NPHP4
(Y1229C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
NPHP4-related condition
+4 more
GConflicting classifications of pathogenicity
NPHP4
(P1204L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+3 more
GUncertain significance
NPHP4
(R1192Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP4
(R1192W +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+5 more
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+4 more
GBenign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
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