"PreventionGenetics, part of Exact Sciences"[submitter] AND "F12"[gene - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352986	NM_000505.4(F12):c.1342C>T (p.Arg448Cys)	F12, SLC34A1 (R448C)	Single nucleotide variant (missense variant)	Hereditary angioneurotic edema +5 more	GBenign/Likely benign
Select item 1879642	NM_000505.4(F12):c.1251-5dup	F12	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3043999	NM_000505.4(F12):c.1251-5del	F12	Deletion (intron variant)	F12-related disorder	GLikely 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 2077756	NM_000505.4(F12):c.1125C>G (p.Gly375=)	F12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2723904	NM_000505.4(F12):c.922T>A (p.Ser308Thr)	F12 (S308T)	Single nucleotide variant (missense variant)	F12-related disorder +1 more	GLikely benign
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)	Hereditary angioedema type 3 +3 more	GConflicting classifications of pathogenicity
Select item 3043040	NM_000505.4(F12):c.345C>T (p.Ser115=)	F12	Single nucleotide variant (synonymous variant)	F12-related disorder	GLikely benign
Select item 3056102	NM_000505.4(F12):c.115+6T>G	F12	Single nucleotide variant (intron variant)	F12-related disorder	GLikely benign
Select item 2635489	NM_000505.4(F12):c.111A>G (p.Thr37=)	F12	Single nucleotide variant (synonymous variant)	F12-related disorder	GUncertain significance
Select item 2629882	NM_000505.4(F12):c.71A>G (p.Glu24Gly)	F12 (E24G)	Single nucleotide variant (missense variant)	F12-related disorder	GUncertain significance
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	Hereditary angioneurotic edema +4 more	GConflicting classifications of pathogenicity
Select item 3035406	NC_000005.10:g.177409599T>C	F12	Single nucleotide variant	F12-related disorder	GLikely benign