"Fulgent Genetics, Fulgent Genetics"[submitter] AND "F12"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352976	NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +6 more	GBenign/Likely benign
Select item 352988	NM_000505.4(F12):c.1272G>C (p.Thr424=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +4 more	GBenign/Likely benign
Select item 1169	NM_000505.4(F12):c.983C>A (p.Thr328Lys)	F12, SLC34A1 (T328K)	Single nucleotide variant (missense variant)	Hereditary angioneurotic edema +3 more	GPathogenic
Select item 353002	NM_000505.4(F12):c.398-12C>T	F12	Single nucleotide variant (intron variant)	Factor XII deficiency disease +2 more	GBenign/Likely benign
Select item 369462	NC_000005.10:g.177409584C>G	F12	Single nucleotide variant	Hereditary angioneurotic edema +3 more	GConflicting classifications of pathogenicity
Select item 369463	NM_000505.4(F12):c.-62C>T	F12	Single nucleotide variant	Hereditary angioneurotic edema +3 more	GLikely benign

ClinVar