U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYROXD1, RECQL
(D647N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYROXD1, RECQL
(R644I)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PYROXD1, RECQL
(M630T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYROXD1, RECQL
(K626A)
Indel
(missense variant +1 more)
not provided
GUncertain significance
PYROXD1, RECQL
(N622T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PYROXD1, RECQL
(N619H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
PYROXD1, RECQL
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PYROXD1, RECQL
(T587I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PYROXD1, RECQL
(T566A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PYROXD1, RECQL
(A565V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PYROXD1, RECQL
Copy number loss
not provided
GUncertain significance
GYS2, KCNJ8
+11 more
Copy number loss
not provided
GPathogenic
RECQL, PYROXD1
Copy number loss
not provided
GUncertain significance
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination