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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMAB, MVK
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
MMAB, MVK
(L27F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MMAB, MVK
Single nucleotide variant
(synonymous variant +1 more)
Methylmalonic acidemia
+5 more
GBenign
MMAB, MVK
(R19H)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
+5 more
GBenign
MMAB, MVK
Single nucleotide variant
(genic upstream transcript variant)
not specified
+2 more
GBenign
MVK
(V80I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MVK
(G96V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+5 more
GBenign/Likely benign
MVK
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+5 more
GConflicting classifications of pathogenicity
MVK
(W188* +1 more)
Single nucleotide variant
(nonsense)
Porokeratosis 3, disseminated superficial actinic type
+4 more
GPathogenic
MVK
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+5 more
GConflicting classifications of pathogenicity
MVK
(V377I +1 more)
Single nucleotide variant
(missense variant)
Hyperimmunoglobulin D with periodic fever
+8 more
GPathogenic/Likely pathogenic
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