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Links from MedGen

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F12
(V524fs)
Deletion
(frameshift variant)
Factor XII deficiency disease
GPathogenic
F12
(P488S)
Single nucleotide variant
(missense variant)
Factor XII deficiency disease
GUncertain significance
F12
(Q139*)
Single nucleotide variant
(nonsense)
Factor XII deficiency disease
GLikely pathogenic
F12
(G506fs)
Deletion
(frameshift variant)
Factor XII deficiency disease
GLikely pathogenic
F12
(R196C)
Single nucleotide variant
(missense variant)
Factor XII deficiency disease
GUncertain significance
F12
(G360V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
not provided
+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)
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
Single nucleotide variant
(3 prime UTR variant)
Hereditary angioedema type 3
+1 more
GUncertain significance
F12
Single nucleotide variant
Hereditary angioneurotic edema
+2 more
GLikely benign
F12
Single nucleotide variant
Hereditary angioneurotic edema
+4 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
+3 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)
Hereditary angioedema type 3
+2 more
GBenign/Likely benign
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
(P342L)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+2 more
GConflicting classifications of pathogenicity
F12
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
+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)
Factor XII deficiency disease
+4 more
GBenign/Likely benign
F12, SLC34A1
Single nucleotide variant
(synonymous variant)
Hereditary angioedema type 3
+4 more
GBenign/Likely benign
F12, SLC34A1
(R448C)
Single nucleotide variant
(missense variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+5 more
GBenign/Likely benign
F12, SLC34A1
Single nucleotide variant
(3 prime UTR variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+3 more
GBenign/Likely benign
F12, SLC34A1
Single nucleotide variant
(3 prime UTR variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+3 more
GBenign/Likely benign
F12, SLC34A1
Single nucleotide variant
(3 prime UTR variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+4 more
GBenign
F12, SLC34A1
Single nucleotide variant
(3 prime UTR variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+3 more
GBenign/Likely benign
F12, SLC34A1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
F12, SLC34A1
(H568Y)
Single nucleotide variant
(missense variant)
Hereditary angioneurotic edema
+4 more
GBenign/Likely benign
SLC34A1, F12
Single nucleotide variant
(synonymous variant)
Hereditary angioneurotic edema
+4 more
GBenign
F12, SLC34A1
(R495C)
Single nucleotide variant
(missense variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+4 more
GConflicting classifications of pathogenicity
F12
(A207P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
F12, SLC34A1
Single nucleotide variant
(intron variant)
Hereditary angioneurotic edema
+5 more
GBenign
F12
(A343P)
Single nucleotide variant
(missense variant)
Factor XII deficiency disease
+1 more
GBenign/Likely benign
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
F12
Single nucleotide variant
(splice acceptor variant)
F12-Related Disorders
+2 more
GConflicting classifications of pathogenicity
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