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Links from Gene

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX49
(R300Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(F141C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(Q218L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(A233P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(M110I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(E247K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(R269H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(R91W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(V57L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX49
(R413Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(M281V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(V276M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(A174V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(A174E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(V167M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(E116D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(C102F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(R429H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49, LOC130064040
(I36V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARMC6, ATP13A1
+36 more
Copy number loss
not specified
GUncertain significance
DDX49
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DDX49
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX49
(R344Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(R464H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
DDX49
(P212S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ISYNA1, JAK3
+44 more
Duplication
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
DDX49
(G327R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(R147P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(S272T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX49
(P177R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARMC6, BORCS8
+13 more
Deletion
Progressive myoclonic epilepsy type 8
GUncertain significance
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
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