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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F12
Deletion
(intron variant)
not provided
+1 more
GBenign
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+1 more
GBenign
F12
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
GUncertain significance
F12
(L14S)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+1 more
GLikely benign
F12
(C590G)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
GUncertain significance
F12
(E510D)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
GUncertain significance
F12
(A177V)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
GBenign
ANGPT1
(Q170H +2 more)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
(C98Y)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+1 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
(3 prime UTR variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
(R381H)
Single nucleotide variant
(missense variant)
Factor XII deficiency disease
+1 more
GUncertain significance
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+1 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
(synonymous variant)
Factor XII deficiency disease
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
+1 more
GConflicting classifications of pathogenicity
F12
(Q319H)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
+1 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(3 prime UTR variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
ANGPT1
(R384Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F12
Deletion
(splice donor variant)
Hereditary angioedema type 3
GLikely pathogenic
F12
Duplication
(inframe_insertion)
Hereditary angioedema type 3
GPathogenic
F12
Single nucleotide variant
Hereditary angioneurotic edema
+2 more
GLikely benign
F12
Single nucleotide variant
Factor XII deficiency disease
+3 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(5 prime UTR variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
(5 prime UTR variant)
Factor XII deficiency disease
+1 more
GLikely benign
F12
Single nucleotide variant
(5 prime UTR variant)
Factor XII deficiency disease
+1 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
F12
(L140V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
F12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
F12
(R310W)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
(R310S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+1 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
F12
(P342L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
(intron variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12, SLC34A1
Single nucleotide variant
(intron variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+3 more
GLikely benign
F12, SLC34A1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
F12, SLC34A1
Single nucleotide variant
(synonymous variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+4 more
GBenign/Likely benign
F12, SLC34A1
(R448C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
F12
(A207P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
F12, SLC34A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
F12
(T328R)
Single nucleotide variant
(missense variant)
Factor XII deficiency disease
+4 more
GPathogenic
F12, SLC34A1
(T328K)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+3 more
GPathogenic
F12
(Y53C)
Single nucleotide variant
(missense variant)
Factor XII deficiency disease
+1 more
GUncertain significance
F12
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign
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