F5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	LOC126805925, LOC126805926 +239 more	Copy number loss	See cases	GPathogenic
Select item 874202	NM_000130.5(F5):c.*2351C>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293541	NM_000130.5(F5):c.*2328G>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GBenign/Likely benign
Select item 876088	NM_000130.5(F5):c.*2148C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293542	NM_000130.5(F5):c.*2053G>C	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 877040	NM_000130.5(F5):c.*2037G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +2 more	GConflicting classifications of pathogenicity
Select item 293543	NM_000130.5(F5):c.*1939T>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874258	NM_000130.5(F5):c.*1912C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 875182	NM_000130.5(F5):c.*1857G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293544	NM_000130.5(F5):c.*1820A>C	F5	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 293545	NM_000130.5(F5):c.*1780G>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 876149	NM_000130.5(F5):c.*1776A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 876290	NM_000130.5(F5):c.*1715T>G	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 874310	NM_000130.5(F5):c.*1699G>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874311	NM_000130.5(F5):c.*1613A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293546	NM_000130.5(F5):c.*1601C>T	F5	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 875238	NM_000130.5(F5):c.*1531C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293547	NM_000130.5(F5):c.*1488T>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 293548	NM_000130.5(F5):c.*1436T>A	F5	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 876339	NM_000130.5(F5):c.*1433G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293549	NM_000130.5(F5):c.*1432C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 874372	NM_000130.5(F5):c.*1404G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874373	NM_000130.5(F5):c.*1301A>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293550	NM_000130.5(F5):c.*1290G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 875292	NM_000130.5(F5):c.*1257A>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293551	NM_000130.5(F5):c.*1246C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GBenign/Likely benign
Select item 876255	NM_000130.5(F5):c.*1237G>A	F5	Single nucleotide variant (3 prime UTR variant)	Factor V deficiency +3 more	GUncertain significance
Select item 293552	NM_000130.5(F5):c.*1170G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874422	NM_000130.5(F5):c.*1132A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293553	NM_000130.5(F5):c.*1118G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GBenign/Likely benign
Select item 293554	NM_000130.5(F5):c.*1115C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GBenign/Likely benign
Select item 875385	NM_000130.5(F5):c.*1043T>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293555	NM_000130.5(F5):c.*891A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293556	NM_000130.5(F5):c.*873C>T	F5	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 874467	NM_000130.5(F5):c.*872C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293557	NM_000130.5(F5):c.*838T>C	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GConflicting classifications of pathogenicity
Select item 293558	NM_000130.5(F5):c.*762G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293559	NM_000130.5(F5):c.*598T>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293560	NM_000130.5(F5):c.*581C>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 293561	NM_000130.5(F5):c.*476C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GConflicting classifications of pathogenicity
Select item 293562	NM_000130.5(F5):c.*441C>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293563	NM_000130.5(F5):c.*400C>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293564	NM_000130.5(F5):c.*396C>A	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293565	NM_000130.5(F5):c.*390C>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874569	NM_000130.5(F5):c.*376A>T	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +2 more	GBenign/Likely benign
Select item 875496	NM_000130.5(F5):c.*366A>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293566	NM_000130.5(F5):c.*363T>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 876512	NM_000130.5(F5):c.*288T>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293567	NM_000130.5(F5):c.*216T>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293568	NM_000130.5(F5):c.*157A>T	F5	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 293569	NM_000130.5(F5):c.*149C>G	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 293570	NM_000130.5(F5):c.*104A>C	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 874621	NM_000130.5(F5):c.*75G>A	F5	Single nucleotide variant (3 prime UTR variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 255215	NM_000130.5(F5):c.6665A>G (p.Asp2222Gly)	F5 (D2222G)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +3 more	GBenign/Likely benign
Select item 1754743	NM_000130.5(F5):c.6662G>A (p.Cys2221Tyr)	F5 (C2221Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2882116	NM_000130.5(F5):c.6660C>T (p.Gly2220=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2883429	NM_000130.5(F5):c.6651A>G (p.Glu2217=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GBenign
Select item 2887427	NM_000130.5(F5):c.6645C>T (p.Arg2215=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 1676748	NM_000130.5(F5):c.6644G>A (p.Arg2215His)	F5 (R2215H)	Single nucleotide variant (missense variant)	Factor V deficiency	GUncertain significance
Select item 293571	NM_000130.5(F5):c.6629A>T (p.Gln2210Leu)	F5 (Q2210L)	Single nucleotide variant (missense variant)	Budd-Chiari syndrome +3 more	GUncertain significance
Select item 737691	NM_000130.5(F5):c.6606T>A (p.Arg2202=)	F5	Single nucleotide variant (synonymous variant)	F5-related condition +1 more	GLikely benign
Select item 734407	NM_000130.5(F5):c.6600T>C (p.Phe2200=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 293572	NM_000130.5(F5):c.6589A>G (p.Ile2197Val)	F5 (I2197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1754327	NM_000130.5(F5):c.6586A>G (p.Ile2196Val)	F5 (I2196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2891838	NM_000130.5(F5):c.6579C>T (p.Asn2193=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2632465	NM_000130.5(F5):c.6570C>A (p.Asn2190Lys)	F5 (N2190K)	Single nucleotide variant (missense variant)	F5-related condition	GUncertain significance
Select item 1754169	NM_000130.5(F5):c.6555A>C (p.Lys2185Asn)	F5 (K2185N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716051	NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)	F5 (K2185R)	Single nucleotide variant (missense variant)	F5-related condition +7 more	GBenign/Likely benign
Select item 2632557	NM_000130.5(F5):c.6551C>T (p.Thr2184Ile)	F5 (T2184I)	Single nucleotide variant (missense variant)	F5-related condition	GUncertain significance
Select item 2598192	NM_000130.5(F5):c.6536A>C (p.Glu2179Ala)	F5 (E2179A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694534	NM_000130.5(F5):c.6530T>A (p.Ile2177Asn)	F5 (I2177N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824398	NM_000130.5(F5):c.6529-11T>C	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2868054	NM_000130.5(F5):c.6529-12T>C	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 1244773	NM_000130.5(F5):c.6529-65A>C	F5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255303	NM_000130.5(F5):c.6529-147G>A	F5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242569	NM_000130.5(F5):c.6528+130A>C	F5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2857506	NM_000130.5(F5):c.6528+17G>T	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2885457	NM_000130.5(F5):c.6528+9G>A	F5	Single nucleotide variant (intron variant)	Congenital factor V deficiency	GLikely benign
Select item 2884220	NM_000130.5(F5):c.6516C>T (p.Ser2172=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2885579	NM_000130.5(F5):c.6504G>A (p.Arg2168=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 1753799	NM_000130.5(F5):c.6489A>G (p.Glu2163=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +2 more	GLikely benign
Select item 293573	NM_000130.5(F5):c.6459T>C (p.Tyr2153=)	F5	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +3 more	GUncertain significance
Select item 2567184	NM_000130.5(F5):c.6451A>G (p.Lys2151Glu)	F5 (K2151E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 255214	NM_000130.5(F5):c.6443T>C (p.Met2148Thr)	F5 (M2148T)	Single nucleotide variant (missense variant)	Congenital factor V deficiency +5 more	GBenign/Likely benign
Select item 2843562	NM_000130.5(F5):c.6438T>C (p.Ser2146=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2846505	NM_000130.5(F5):c.6435C>T (p.Ser2145=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2698049	NM_000130.5(F5):c.6435C>A (p.Ser2145=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2746746	NM_000130.5(F5):c.6417G>A (p.Gln2139=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 2639535	NM_000130.5(F5):c.6404C>T (p.Ala2135Val)	F5 (A2135V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712893	NM_000130.5(F5):c.6402G>A (p.Thr2134=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency +1 more	GLikely benign
Select item 1049414	NM_000130.5(F5):c.6401C>T (p.Thr2134Met)	F5 (T2134M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2892859	NM_000130.5(F5):c.6396G>A (p.Lys2132=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign
Select item 3013912	NM_000130.5(F5):c.6381A>G (p.Leu2127=)	F5	Single nucleotide variant (synonymous variant)	Congenital factor V deficiency	GLikely benign

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