ClinVar for MedGen (Select 442497) - ClinVar - NCBI

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	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 3336542	NC_000006.11:g.(6146006_6152045)_(6182375_6196029)del	F13A1	Deletion	Factor XIII, A subunit, deficiency of	GPathogenic
Select item 3147977	NM_000129.4(F13A1):c.691T>A (p.Phe231Ile)	F13A1 (F231I)	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 2683978	NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)	F13A1 (R78C)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GPathogenic
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 2572146	NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)	F13A1 (R79*)	Single nucleotide variant (nonsense)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2572144	NM_000129.4(F13A1):c.2150A>G (p.His717Arg)	F13A1 (H717R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 2572108	NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)	F13A1 (Y241*)	Single nucleotide variant (nonsense)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 2572103	NM_000129.4(F13A1):c.1112+1G>A	F13A1	Single nucleotide variant (splice donor variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
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 2429375	NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)	F13A1 (G313R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
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
Select item 1705322	NM_000129.4(F13A1):c.707T>G (p.Leu236Arg)	F13A1 (L236R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 1526251	NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs)	F13A1 (I154fs)	Insertion (frameshift variant)	Factor XIII, A subunit, deficiency of	GPathogenic
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 1253415	NM_000129.4(F13A1):c.1217-24C>T	F13A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1237919	NM_000129.4(F13A1):c.1909-29G>C	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of +1 more	GBenign
Select item 1237804	NM_000129.4(F13A1):c.1747+27C>G	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of +1 more	GBenign
Select item 1227355	NM_000129.4(F13A1):c.1217-23C>T	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of +1 more	GBenign
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 911739	NM_000129.4(F13A1):c.1184C>T (p.Ala395Val)	F13A1 (A395V)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +2 more	GConflicting classifications of pathogenicity
Select item 911738	NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser)	F13A1 (A498S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 911668	NM_000129.4(F13A1):c.*428C>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 911667	NM_000129.4(F13A1):c.*606T>C	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 910507	NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)	F13A1 (T577M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 910506	NM_000129.4(F13A1):c.1748-7C>G	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 910505	NM_000129.4(F13A1):c.1761G>A (p.Ala587=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 910504	NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser)	F13A1 (A621S)	Single nucleotide variant (missense variant)	Myocardial infarction, susceptibility to +2 more	GUncertain significance
Select item 910452	NM_000129.4(F13A1):c.*796G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 910451	NM_000129.4(F13A1):c.*934G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 910450	NM_000129.4(F13A1):c.*966G>T	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 909637	NM_000129.3(F13A1):c.-95C>G	F13A1	Single nucleotide variant	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 909636	NM_000129.4(F13A1):c.130+15C>G	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 909574	NM_000129.4(F13A1):c.1998A>G (p.Val666=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 909573	NM_000129.4(F13A1):c.2036A>T (p.Lys679Met)	F13A1 (K679M)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 909514	NM_000129.4(F13A1):c.*1045C>G	F13A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 909513	NM_000129.4(F13A1):c.*1135G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 909512	NM_000129.4(F13A1):c.*1253T>C	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 909511	NM_000129.4(F13A1):c.*1455G>C	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 908782	NM_000129.4(F13A1):c.476G>A (p.Arg159His)	F13A1 (R159H)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 908781	NM_000129.4(F13A1):c.542C>T (p.Thr181Met)	F13A1 (T181M)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 908780	NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe)	F13A1 (Y205F)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +1 more	GLikely benign
Select item 908779	NM_000129.4(F13A1):c.680G>A (p.Ser227Asn)	F13A1 (S227N)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 908778	NM_000129.4(F13A1):c.911G>A (p.Arg304Gln)	F13A1 (R304Q)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 908719	NM_000129.4(F13A1):c.*102G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 908718	NM_000129.4(F13A1):c.*208T>C	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	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 786407	NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln)	F13A1 (L589Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 782102	NM_000129.4(F13A1):c.2169C>T (p.Asp723=)	F13A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 627260	NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter)	F13A1 (Q602*)	Single nucleotide variant (nonsense)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 627157	NM_000129.4(F13A1):c.888C>G (p.Ser296Arg)	F13A1 (S296R)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 627038	NM_000129.4(F13A1):c.233G>T (p.Arg78Leu)	F13A1 (R78L)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GConflicting classifications of pathogenicity
Select item 627022	NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)	F13A1 (G593S)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 617620	NM_000129.4(F13A1):c.1817del (p.His606fs)	F13A1 (H606fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of	GPathogenic
Select item 561177	NM_000129.4(F13A1):c.1352_1353del (p.His451fs)	F13A1 (H451fs)	Deletion (frameshift variant)	Factor XIII, A subunit, deficiency of	GLikely pathogenic
Select item 357681	NM_000129.4(F13A1):c.-28G>A	F13A1	Single nucleotide variant (5 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357680	NM_000129.4(F13A1):c.-19+12A>C	F13A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 357679	NM_000129.4(F13A1):c.-18-5dup	F13A1	Duplication (intron variant)	Factor XIII, A subunit, deficiency of	GLikely benign
Select item 357678	NM_000129.4(F13A1):c.102C>T (p.Gly34=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
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 357676	NM_000129.4(F13A1):c.327C>T (p.Tyr109=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357675	NM_000129.4(F13A1):c.799-13C>T	F13A1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 357674	NM_000129.4(F13A1):c.889G>A (p.Val297Ile)	F13A1 (V297I)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357673	NM_000129.4(F13A1):c.990A>T (p.Gly330=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357672	NM_000129.4(F13A1):c.1112+11T>C	F13A1	Single nucleotide variant (intron variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357671	NM_000129.4(F13A1):c.1731G>C (p.Thr577=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357670	NM_000129.4(F13A1):c.1860G>C (p.Leu620=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 357669	NM_000129.4(F13A1):c.2029A>G (p.Met677Val)	F13A1 (M677V)	Single nucleotide variant (missense variant)	Factor XIII, A subunit, deficiency of +1 more	GUncertain significance
Select item 357668	NM_000129.4(F13A1):c.2067C>T (p.Thr689=)	F13A1	Single nucleotide variant (synonymous variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357667	NM_000129.4(F13A1):c.*42G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357666	NM_000129.4(F13A1):c.*67C>T	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357665	NM_000129.4(F13A1):c.*89A>G	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GBenign
Select item 357664	NM_000129.4(F13A1):c.*112G>T	F13A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 357663	NM_000129.4(F13A1):c.*126T>C	F13A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 357662	NM_000129.4(F13A1):c.*160G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 357661	NM_000129.4(F13A1):c.*221G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GBenign
Select item 357660	NM_000129.4(F13A1):c.*270C>T	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357659	NM_000129.4(F13A1):c.*417G>T	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357658	NM_000129.4(F13A1):c.*443G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 357657	NM_000129.4(F13A1):c.*587G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357656	NM_000129.4(F13A1):c.*619C>T	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357655	NM_000129.4(F13A1):c.*627G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357654	NM_000129.4(F13A1):c.*628G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357653	NM_000129.4(F13A1):c.*743G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GBenign
Select item 357652	NM_000129.4(F13A1):c.*927G>A	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357651	NM_000129.4(F13A1):c.*945T>C	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357650	NM_000129.4(F13A1):c.*995G>T	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GBenign
Select item 357649	NM_000129.4(F13A1):c.*1030G>T	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 357648	NM_000129.4(F13A1):c.*1167T>G	F13A1	Single nucleotide variant (3 prime UTR variant)	Factor XIII, A subunit, deficiency of	GUncertain significance
Select item 255187	NM_000129.4(F13A1):c.996A>C (p.Pro332=)	F13A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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