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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLG
(K330E)
Single nucleotide variant
(missense variant)
PLG-related condition
+2 more
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, 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, 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)
not provided
+4 more
GBenign/Likely benign
F12, SLC34A1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
F12, SLC34A1
(R495C)
Single nucleotide variant
(missense variant)
Nephrolithiasis/osteoporosis, hypophosphatemic
+4 more
GConflicting classifications of pathogenicity
SERPING1
Duplication
Hereditary angioneurotic edema
GLikely benign
F12, SLC34A1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
F12, SLC34A1
(T328K)
Single nucleotide variant
(missense variant)
Hereditary angioedema type 3
+3 more
GPathogenic
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