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Links from Gene

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNT13, RPRM
(A12T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GALNT13, RPRM
(S19N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GALNT13, LOC126806381
(N125D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GALNT13, GALNT13-AS1
(M413V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALNT13, GALNT13-AS1
(G308R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALNT13, LOC126806381
(T107A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GALNT13, LOC126806381
(T130I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GALNT13, LOC126806381
(V120I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALNT13, RPRM
(A26V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALNT13, RPRM
(S50R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALNT13
Copy number loss
not specified
GUncertain significance
GALNT13
Copy number loss
not provided
GLikely benign
GALNT13
Copy number gain
not provided
GLikely benign
GALNT13
Copy number gain
not provided
GUncertain significance
GALNT13
Copy number gain
See cases
GLikely benign
GALNT13
Duplication
Small for gestational age
Gnot provided
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