"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098511	NM_000129.4(F13A1):c.1909G>A (p.Val637Ile)	F13A1 (V637I)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 1098512	NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser)	F13A1 (G511S)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 1098513	NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala)	F13A1 (G449A)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 1098514	NM_000129.4(F13A1):c.1297T>G (p.Phe433Val)	F13A1 (F433V)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 3028895	NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)	F13A1 (G274R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 872489	NM_000129.4(F13A1):c.798+2T>C	F13A1	Single nucleotide variant (splice donor variant)	Factor XIII, A subunit, deficiency of	GPathogenic
Select item 1098515	NM_000129.4(F13A1):c.787G>A (p.Gly263Arg)	F13A1 (G263R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 1098516	NM_000129.4(F13A1):c.186G>C (p.Lys62Asn)	F13A1 (K62N)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance