U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
ABI3, ATP5MC1
+99 more
Copy number loss
See cases
GPathogenic
NFE2L1
(L13F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(P37S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(P37L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NFE2L1
(L62F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(G66V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R81W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R81Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R82W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(V140L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(V140A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R141*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NFE2L1
(R189C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(Y183C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R186C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R197H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R197Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NFE2L1
(G200D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(E212K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(A206S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(A210T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(T234S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(C256F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFE2L1
(L246R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFE2L1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NFE2L1
(V272L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(Q263H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(P296S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(P323A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(T391A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(G398S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(G410V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(M435V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(S459F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(E483A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(Q534H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R542C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R553H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(P548A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(A560T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(S552G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(A576P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(A557V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R589* +2 more)
Single nucleotide variant
(nonsense)
Global developmental delay
GUncertain significance
NFE2L1
(R661Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(L680M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R684H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R665Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(E702Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(Q682R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(G716R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R731W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R762P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFE2L1
(R762Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF18B, LPO
+196 more
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
CBX1, CDC27
+24 more
Copy number gain
PNPO-related disorder
GLikely pathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination