"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352975	NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)	F12, SLC34A1 (H568Y)	Single nucleotide variant (missense variant)	Hereditary angioneurotic edema +4 more	GBenign/Likely benign
Select item 256309	NM_000505.4(F12):c.1251-9C>T	F12, SLC34A1	Single nucleotide variant (intron variant)	Hereditary angioneurotic edema +5 more	GBenign
Select item 1169	NM_000505.4(F12):c.983C>A (p.Thr328Lys)	F12, SLC34A1 (T328K)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +3 more	GPathogenic
Select item 256310	NM_000505.4(F12):c.619G>C (p.Ala207Pro)	F12 (A207P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 353001	NM_000505.4(F12):c.418C>G (p.Leu140Val)	F12 (L140V)	Single nucleotide variant (missense variant)	F12-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1167	NM_000505.4(F12):c.-4T>C	F12	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 369462	NM_000505.3(F12):c.-57G>C	F12	Single nucleotide variant	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar