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Items: 36

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
CYB561
(T250M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(A234G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(R233W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(Y217C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(A214T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
Single nucleotide variant
(synonymous variant)
CYB561-related disorder
GLikely benign
CYB561
Single nucleotide variant
(synonymous variant)
CYB561-related disorder
GLikely benign
CYB561
(V179M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(R155H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(R155C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(R160W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(G147R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(F142L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(F147L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(A122T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(G120S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(D107N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
Single nucleotide variant
(synonymous variant)
CYB561-related disorder
GLikely benign
CYB561
(F93S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
(G88R +1 more)
Single nucleotide variant
(missense variant)
Orthostatic hypotension 2
GPathogenic
CYB561
Single nucleotide variant
(synonymous variant)
CYB561-related disorder
GBenign
CYB561, LOC112533658
(W44* +1 more)
Single nucleotide variant
(nonsense)
Orthostatic hypotension 2
GPathogenic
CYB561
(Y15F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYB561
Single nucleotide variant
(synonymous variant)
CYB561-related disorder
GLikely benign
CYB561
Single nucleotide variant
(5 prime UTR variant +1 more)
CYB561-related disorder
GBenign
ACE, APPBP2
+43 more
Copy number gain
See cases
GUncertain significance
CYB561, TANC2
Copy number gain
not provided
GUncertain significance
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
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
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
ACE, APOH
+48 more
Copy number gain
See cases
GPathogenic
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