"GeneDx"[submitter] AND "F12"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 352974	NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=)	F12, SLC34A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 352975	NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)	F12, SLC34A1 (H568Y)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +4 more	GBenign/Likely benign
Select item 352980	NM_003052.5(SLC34A1):c.*202A>C	SLC34A1, F12	Single nucleotide variant (3 prime UTR variant)	Factor XII deficiency disease +4 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
Select item 3370136	NM_000505.4(F12):c.1435T>C (p.Ser479Pro)	F12 (S479P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252406	NM_000505.4(F12):c.1388-35C>T	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443589	NM_000505.4(F12):c.1354G>A (p.Ala452Thr)	F12, SLC34A1 (A452T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1181607	NM_000505.4(F12):c.1019-28T>C	F12	Single nucleotide variant (intron variant)	Hereditary angioedema type 3 +1 more	GBenign
Select item 1300761	NM_000505.4(F12):c.1018+19dup	F12	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1230000	NM_000505.4(F12):c.1018+19del	F12	Deletion (intron variant)	Hereditary angioedema type 3 +1 more	GBenign
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 352996	NM_000505.4(F12):c.930G>C (p.Arg310Ser)	F12 (R310S)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +2 more	GBenign/Likely benign
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 352999	NM_000505.4(F12):c.711C>T (p.Pro237=)	F12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 256310	NM_000505.4(F12):c.619G>C (p.Ala207Pro)	F12 (A207P)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +3 more	GBenign
Select item 1249273	NM_000505.4(F12):c.530-65A>G	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288803	NM_000505.4(F12):c.529+23G>A	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353001	NM_000505.4(F12):c.418C>G (p.Leu140Val)	F12 (L140V)	Single nucleotide variant (missense variant)	Factor XII deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 1259899	NM_000505.4(F12):c.116-194T>C	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272279	NM_000505.4(F12):c.116-241A>G	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243824	NM_000505.4(F12):c.116-244T>C	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234893	NM_000505.4(F12):c.116-255G>T	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253348	NM_000505.4(F12):c.58-180C>G	F12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260595	NM_000505.4(F12):c.57+170T>C	F12	Single nucleotide variant (intron variant)	not provided	GBenign
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	NC_000005.10:g.177409584C>G	F12	Single nucleotide variant	Hereditary angioneurotic edema +3 more	GConflicting classifications of pathogenicity

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Items: 33