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Items: 1 to 100 of 198

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC116276498, LOC121627842
+687 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+903 more
Copy number gain
See cases
GPathogenic
LOC130062818, LOC130062819
+332 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+321 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+301 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABCA7, ARHGAP45
+168 more
Copy number gain
See cases
GPathogenic
ABCA7, ARHGAP45
+136 more
Copy number loss
See cases
GPathogenic
LOC130062906, LOC130062907
+222 more
Copy number loss
See cases
GPathogenic
ABCA7, ARHGAP45
+25 more
Copy number gain
See cases
GLikely benign
GPX4, LOC130062883
+5 more
Copy number gain
See cases
GBenign
GPX4, LOC130062883
+5 more
Copy number gain
See cases
GBenign
GPX4
Duplication
not provided
GBenign
GPX4, LOC130062886
Single nucleotide variant
not provided
GBenign
GPX4, LOC130062886
Single nucleotide variant
not provided
GBenign
GPX4, LOC130062886
Single nucleotide variant
not provided
GBenign
GPX4, LOC130062887
Single nucleotide variant
not provided
GLikely benign
GPX4, LOC130062887
Single nucleotide variant
not provided
GLikely benign
GPX4, LOC130062887
Single nucleotide variant
(5 prime UTR variant)
GPX4-related disorder
GLikely benign
GPX4, LOC130062887
(G4C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4, LOC130062887
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
GPX4, LOC130062887
(A21T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4, LOC130062887
(A25P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4, LOC130062887
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4, LOC130062887
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4, LOC130062887
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4, LOC130062887
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4, LOC130062887
(G7S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4, LOC130062887
(S8F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GPX4, LOC130062887
(P9S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GPX4, LOC130062887
(P9L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130062887, GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4, LOC130062887
(R11H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GPX4, LOC130062887
(R15P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GPX4, LOC130062887
(Q17*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
GPX4, LOC130062887
(Q17H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
(R36fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
GPX4
(R37P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
(A40E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GPX4
(R43Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GPX4
(R44Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
GPX4
(P49S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GPX4
(R53L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
(I56M)
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
GPX4
(H57R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
(H57Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GPX4
(E58Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GPX4
(P65L)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(R5W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(R73C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
(R12H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
(H79R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(G88R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Deletion
(frameshift variant)
not provided
GLikely pathogenic
GPX4
(M26V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPX4
(L29P +2 more)
Single nucleotide variant
(missense variant)
GPX4-related disorder
+1 more
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPX4
(G61S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(T67P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPX4
(T104S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPX4
(V57I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(D122H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPX4
(Y127* +2 more)
Single nucleotide variant
(nonsense)
Spondylometaphyseal dysplasia, Sedaghatian type
GPathogenic
GPX4
(R69Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(P101R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPX4
(N103D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Duplication
(intron variant)
not provided
GBenign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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