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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(P59L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(L130H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MARVELD2
(R147Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MARVELD2
(Q167R)
Single nucleotide variant
(missense variant)
MARVELD2-related condition
+3 more
GConflicting classifications of pathogenicity
MARVELD2
(I270L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MARVELD2
(L300M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(V443M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(L480V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARVELD2
(T521K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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