"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "F13A1"[ - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782102	NM_000129.4(F13A1):c.2169C>T (p.Asp723=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 786407	NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln)	F13A1 (L589Q)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 793583	NM_000129.4(F13A1):c.1731G>A (p.Thr577=)	F13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1155638	NM_000129.4(F13A1):c.1718C>T (p.Thr573Met)	F13A1 (T573M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711435	NM_000129.4(F13A1):c.1689G>A (p.Gly563=)	F13A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 725280	NM_000129.4(F13A1):c.1652C>T (p.Thr551Ile)	F13A1 (T551I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716120	NM_000129.4(F13A1):c.1620C>T (p.Phe540=)	F13A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 765345	NM_000129.4(F13A1):c.1152T>C (p.Pro384=)	F13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714287	NM_000129.4(F13A1):c.1032T>C (p.Asp344=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of +2 more	GConflicting classifications of pathogenicity
Select item 764714	NM_000129.4(F13A1):c.741A>G (p.Gln247=)	F13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724267	NM_000129.4(F13A1):c.691-6A>G	F13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 644091	NM_000129.4(F13A1):c.572-5T>C	F13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737541	NM_000129.4(F13A1):c.291G>A (p.Arg97=)	F13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 357677	NM_000129.4(F13A1):c.160T>A (p.Phe54Ile)	F13A1 (F54I)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 659834	NM_000129.4(F13A1):c.88G>A (p.Val30Met)	F13A1 (V30M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1093088	NM_000129.4(F13A1):c.22G>A (p.Ala8Thr)	F13A1 (A8T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2425615	NC_000006.11:g.(?_5771504)_(6182394_?)dup	F13A1, FARS2 +1 more	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 2425612	NC_000006.11:g.(?_5109657)_(6320826_?)del	F13A1, FARS2 +2 more	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic