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Items: 23

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
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
KRT23, KRT39
+36 more
Copy number loss
See cases
GLikely benign
KRTAP9-9
(C4Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(C8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(S33N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(P36T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(S45T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(S74C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(C70G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(C76Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(T79P +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KRTAP9-9
(C81Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(I84N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(I84T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KRTAP9-9
(G102R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(G97E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(P138H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTAP9-9
(C150F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT23, KRT39
+33 more
Copy number loss
not provided
GLikely benign
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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