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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MASP1
(W593*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
MASP1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
MASP1
Single nucleotide variant
(intron variant +2 more)
not provided
+2 more
GBenign
MASP1
(T517I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MASP1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MASP1
(T507M)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
MASP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MASP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MASP1
(L304I)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 1
+2 more
GUncertain significance
MASP1
(P302S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MASP1
(R288Q)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 1
+4 more
GConflicting classifications of pathogenicity
MASP1
(Y244C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MASP1
(F228S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MASP1
(N225S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
MASP1
Single nucleotide variant
(synonymous variant +1 more)
3MC syndrome 1
+2 more
GConflicting classifications of pathogenicity
MASP1
(E105D)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 1
+2 more
GUncertain significance
LOC108281160, MASP1
(G35C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108281160, MASP1
(W3R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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