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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPT
(A11E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPT
(R107K)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPT
(E198Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPT
(G226C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPT
Deletion
(splice donor variant)
not provided
GUncertain significance
GPT
(E256Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPT
(R266G)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPT
(R427H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPT
Single nucleotide variant
(intron variant)
not provided
GBenign
GPT
(E430Q)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
GPT
(V452L)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
GPT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADCK5, BOP1
+66 more
Duplication
Holoprosencephaly sequence
GUncertain significance
MFSD3, RECQL4
+1 more
Deletion
Baller-Gerold syndrome
GUncertain significance
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