"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "F13A1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380998	NM_000129.4(F13A1):c.2046-2A>G	F13A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 16524	NM_000129.4(F13A1):c.2045G>A (p.Arg682His)	F13A1 (R682H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3379629	NM_000129.4(F13A1):c.2006A>G (p.Asp669Gly)	F13A1 (D669G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379630	NM_000129.4(F13A1):c.1688G>A (p.Gly563Glu)	F13A1 (G563E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705952	NM_000129.4(F13A1):c.1503C>A (p.Tyr501Ter)	F13A1 (Y501*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 16526	NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter)	F13A1 (Y442*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3379631	NM_000129.4(F13A1):c.1282G>A (p.Asp428Asn)	F13A1 (D428N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380999	NM_000129.4(F13A1):c.1226G>A (p.Arg409Gln)	F13A1 (R409Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2241236	NM_000129.4(F13A1):c.1213G>A (p.Asp405Asn)	F13A1 (D405N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1705953	NM_000129.4(F13A1):c.826C>T (p.Leu276Phe)	F13A1 (L276F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3381000	NM_000129.4(F13A1):c.799-1G>A	F13A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 16531	NM_000129.4(F13A1):c.782G>A (p.Arg261His)	F13A1 (R261H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16537	NM_000129.4(F13A1):c.691-1G>A	F13A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 3381001	NM_000129.4(F13A1):c.631G>A (p.Gly211Arg)	F13A1 (G211R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3379633	NM_000129.4(F13A1):c.282C>A (p.Asp94Glu)	F13A1 (D94E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809752	NM_000129.4(F13A1):c.27del (p.Phe9fs)	F13A1 (F9fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of +1 more	GPathogenic