Related gene-specific medical variations for Gene (Select 2162) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362519	NM_000129.4(F13A1):c.2071C>T (p.Gln691Ter)	F13A1 (Q691*)	Single nucleotide variant (nonsense)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 3340104	NM_000129.4(F13A1):c.1080C>T (p.Asn360=)	F13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664012	NM_000129.4(F13A1):c.601G>A (p.Glu201Lys)	F13A1 (E201K)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 2582772	NM_000129.4(F13A1):c.669del (p.Arg224fs)	F13A1 (R224fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2582702	NM_000129.4(F13A1):c.1430A>G (p.Asp477Gly)	F13A1 (D477G)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 2440190	NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)	F13A1 (G639fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 1322859	NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs)	F13A1 (Q469fs)	Microsatellite (frameshift variant)	Factor XIII, A subunit, deficiency of	GPathogenic
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
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 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 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 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 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 988853	NM_000129.4(F13A1):c.1149G>T (p.Arg383Ser)	F13A1 (R383S)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
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 634901	NM_000129.4(F13A1):c.563G>T (p.Trp188Leu)	F13A1 (W188L)	Single nucleotide variant (missense variant)	Hereditary factor XIII deficiency disease	GPathogenic
Select item 255182	NM_000129.4(F13A1):c.1112+17A>G	F13A1	Single nucleotide variant (intron variant)	not specified	GBenign