ClinVar for MedGen (Select 8772) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068147	NM_000505.4(F12):c.169C>G (p.Leu57Val)	F12 (L57V)	Single nucleotide variant (missense variant)	Factor XII deficiency disease	GUncertain significance
Select item 3066136	NM_000505.4(F12):c.1570del (p.Val524fs)	F12 (V524fs)	Deletion (frameshift variant)	Factor XII deficiency disease	GPathogenic
Select item 3065581	NM_000505.4(F12):c.1462C>T (p.Pro488Ser)	F12 (P488S)	Single nucleotide variant (missense variant)	Factor XII deficiency disease	GUncertain significance
Select item 2671919	NM_000505.4(F12):c.415C>T (p.Gln139Ter)	F12 (Q139*)	Single nucleotide variant (nonsense)	Factor XII deficiency disease	GLikely pathogenic
Select item 2572132	NM_000505.4(F12):c.1517del (p.Gly506fs)	F12 (G506fs)	Deletion (frameshift variant)	Factor XII deficiency disease	GLikely pathogenic
Select item 2572099	NM_000505.4(F12):c.586C>T (p.Arg196Cys)	F12 (R196C)	Single nucleotide variant (missense variant)	Factor XII deficiency disease	GUncertain significance
Select item 2463318	NM_000505.4(F12):c.1079G>T (p.Gly360Val)	F12 (G360V)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +1 more	GUncertain significance
Select item 907867	NM_000505.4(F12):c.286+6A>G	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 907866	NM_000505.4(F12):c.293G>A (p.Cys98Tyr)	F12 (C98Y)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 907810	NM_000505.4(F12):c.1018+14G>T	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 907757	NM_000505.4(F12):c.*86C>T	F12	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 906814	NM_000505.4(F12):c.1142G>A (p.Arg381His)	F12 (R381H)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +1 more	GUncertain significance
Select item 905230	NM_000505.4(F12):c.1251-9C>A	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 904552	NM_000505.4(F12):c.30G>A (p.Leu10=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 904551	NM_000505.4(F12):c.120C>T (p.Leu40=)	F12	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904550	NM_000505.4(F12):c.129C>T (p.Thr43=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 904494	NM_000505.4(F12):c.957G>C (p.Gln319His)	F12 (Q319H)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 904493	NM_000505.4(F12):c.1018+11G>T	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 904431	NM_000505.4(F12):c.1387+4C>G	F12	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904430	NM_000505.4(F12):c.1704G>A (p.Val568=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GConflicting classifications of pathogenicity
Select item 904429	NM_000505.4(F12):c.*9G>A	F12	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 369463	NM_000505.4(F12):c.-62C>T	F12	Single nucleotide variant	Hereditary angioneurotic edema +2 more	GLikely benign
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 353006	NM_000505.4(F12):c.-25G>A	F12	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 353005	NM_000505.4(F12):c.-8C>T	F12	Single nucleotide variant (5 prime UTR variant)	Factor XII deficiency disease +1 more	GLikely benign
Select item 353004	NM_000505.4(F12):c.-3G>A	F12	Single nucleotide variant (5 prime UTR variant)	Factor XII deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 353003	NM_000505.4(F12):c.348C>A (p.Gly116=)	F12	Single nucleotide variant (synonymous variant)	Factor XII deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 353002	NM_000505.4(F12):c.398-12C>T	F12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 353000	NM_000505.4(F12):c.630C>T (p.Asp210=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 352999	NM_000505.4(F12):c.711C>T (p.Pro237=)	F12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 352998	NM_000505.4(F12):c.756C>T (p.Ala252=)	F12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 352997	NM_000505.4(F12):c.928A>T (p.Arg310Trp)	F12 (R310W)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 352996	NM_000505.4(F12):c.930G>C (p.Arg310Ser)	F12 (R310S)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3 +2 more	GBenign/Likely benign
Select item 352995	NM_000505.4(F12):c.1018+12G>C	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 352994	NM_000505.4(F12):c.1018+13G>C	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 352993	NM_000505.4(F12):c.1025C>T (p.Pro342Leu)	F12 (P342L)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 352992	NM_000505.4(F12):c.1107G>C (p.Ser369=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +2 more	GConflicting classifications of pathogenicity
Select item 352991	NM_000505.4(F12):c.1212C>G (p.Pro404=)	F12	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 352990	NM_000505.4(F12):c.1251-12C>A	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GUncertain significance
Select item 352989	NM_000505.4(F12):c.1251-7C>T	F12, SLC34A1	Single nucleotide variant (intron variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GLikely benign
Select item 352988	NM_000505.4(F12):c.1272G>C (p.Thr424=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Factor XII deficiency disease +4 more	GBenign/Likely benign
Select item 352987	NM_000505.4(F12):c.1299C>T (p.Asn433=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	Hereditary angioneurotic edema +4 more	GBenign/Likely benign
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 352985	NM_003052.5(SLC34A1):c.*485G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352983	NM_003052.5(SLC34A1):c.*361T>C	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352980	NM_003052.5(SLC34A1):c.*202A>C	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GBenign
Select item 352979	NM_003052.5(SLC34A1):c.*179G>A	F12, SLC34A1	Single nucleotide variant (3 prime UTR variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +3 more	GBenign/Likely benign
Select item 352976	NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
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 352974	NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=)	SLC34A1, F12	Single nucleotide variant (synonymous variant)	Hereditary angioneurotic edema +4 more	GBenign
Select item 352973	NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)	F12, SLC34A1 (R495C)	Single nucleotide variant (missense variant)	Nephrolithiasis/osteoporosis, hypophosphatemic +4 more	GConflicting classifications of pathogenicity
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 256309	NM_000505.4(F12):c.1251-9C>T	F12, SLC34A1	Single nucleotide variant (intron variant)	Hereditary angioneurotic edema +5 more	GBenign
Select item 225352	NM_000505.4(F12):c.1027G>C (p.Ala343Pro)	F12 (A343P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1170	NM_000505.4(F12):c.983C>G (p.Thr328Arg)	F12 (T328R)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +4 more	GPathogenic
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 1168	NM_000505.4(F12):c.158A>G (p.Tyr53Cys)	F12 (Y53C)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +1 more	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 1166	NM_000505.4(F12):c.1681-1G>A	F12	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 60