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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTHFD1, ZBTB25
(R772H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ZBTB25, MTHFD1
(Q803R +1 more)
Single nucleotide variant
(missense variant)
MTHFD1-related disorder
+1 more
GLikely benign
MTHFD1, ZBTB25
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MTHFD1, ZBTB25
(E954D)
Single nucleotide variant
(missense variant +2 more)
MTHFD1-related disorder
GBenign
ZBTB25
Single nucleotide variant
(synonymous variant +2 more)
ZBTB25-related disorder
GBenign
ZBTB25
Single nucleotide variant
(synonymous variant +1 more)
ZBTB25-related disorder
GLikely benign
ZBTB25
(D177N +1 more)
Single nucleotide variant
(missense variant +1 more)
ZBTB25-related disorder
GBenign
ZBTB25
(I174V +1 more)
Single nucleotide variant
(missense variant +1 more)
ZBTB25-related disorder
+1 more
GConflicting classifications of pathogenicity
ZBTB25
(I128T +1 more)
Single nucleotide variant
(missense variant +1 more)
ZBTB25-related disorder
GBenign
ZBTB25
Single nucleotide variant
(synonymous variant +1 more)
ZBTB25-related disorder
GLikely benign
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