ClinVar for Gene (Select 285441) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024032	NM_000128.4(F11):c.1512del (p.Gly505fs)	F11, F11-AS1 (G505fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3016757	NM_000128.4(F11):c.1716+6dup	F11, F11-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 3015867	NM_000128.4(F11):c.1717-4C>T	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2985207	NM_000128.4(F11):c.1481-20C>G	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960640	NM_000128.4(F11):c.1735C>T (p.Leu579=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2916020	NM_000128.4(F11):c.1717-16T>G	F11-AS1, F11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2913661	NM_000128.4(F11):c.1577-11dup	F11, F11-AS1	Duplication (intron variant)	not provided	GBenign
Select item 2906243	NM_000128.4(F11):c.1627G>T (p.Glu543Ter)	F11, F11-AS1 (E543*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2903512	NM_000128.4(F11):c.1717-17G>C	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2896634	NM_000128.4(F11):c.1481-17C>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893640	NM_000128.4(F11):c.1777A>T (p.Thr593Ser)	F11, F11-AS1 (T593S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2893301	NM_000128.4(F11):c.1577-11A>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893298	NM_000128.4(F11):c.1577-11del	F11, F11-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2891264	NM_000128.4(F11):c.1821T>C (p.Val607=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890308	NM_000128.4(F11):c.1716+8_1716+9del	F11, F11-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2889386	NM_000128.4(F11):c.1576+11T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884623	NM_000128.4(F11):c.1710T>C (p.Ala570=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883287	NM_000128.4(F11):c.1716+7G>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882665	NM_000128.4(F11):c.1481-14T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882664	NM_000128.4(F11):c.1481-15del	F11, F11-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2880232	NM_000128.4(F11):c.1717-17G>A	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2858560	NM_000128.4(F11):c.1481-8A>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851505	NM_000128.4(F11):c.1725G>C (p.Ser575=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781025	NM_000128.4(F11):c.1577-18C>G	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768257	NM_000128.4(F11):c.1772G>A (p.Gly591Asp)	F11, F11-AS1 (G591D)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2759571	NM_000128.4(F11):c.1481-15_1481-14insCC	F11, F11-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2759570	NM_000128.4(F11):c.1481-16del	F11-AS1, F11	Deletion (intron variant)	not provided	GLikely benign
Select item 2734697	NM_000128.4(F11):c.1557G>C (p.Trp519Cys)	F11, F11-AS1 (W519C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2732291	NM_000128.4(F11):c.1576+19T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730907	NM_000128.4(F11):c.1717-15C>G	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2723713	NM_000128.4(F11):c.1717-7G>T	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2682877	NM_000128.4(F11):c.1866_1867del (p.Gln623fs)	F11, F11-AS1 (Q623fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2637513	NM_000128.4(F11):c.1831G>A (p.Val611Met)	F11, F11-AS1 (V611M)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2632230	NM_000128.4(F11):c.1577-1G>C	F11, F11-AS1	Single nucleotide variant (splice acceptor variant)	F11-related condition	GLikely pathogenic
Select item 2582715	NM_000128.4(F11):c.1634G>A (p.Cys545Tyr)	F11, F11-AS1 (C545Y)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2440180	NM_000128.4(F11):c.1837G>A (p.Glu613Lys)	F11-AS1, F11 (E613K)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2318838	NM_000128.4(F11):c.1589A>G (p.Asn530Ser)	F11, F11-AS1 (N530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318282	NM_000128.4(F11):c.1751A>G (p.Asn584Ser)	F11, F11-AS1 (N584S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2172105	NM_000128.4(F11):c.1605C>T (p.Ala535=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171182	NM_000128.4(F11):c.1810C>A (p.Arg604=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2170262	NM_000128.4(F11):c.1726G>T (p.Gly576Ter)	F11, F11-AS1 (G576*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2164760	NM_000128.4(F11):c.1776C>T (p.Ile592=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2139415	NM_000128.4(F11):c.*194TTTG[1]	F11, F11-AS1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2028055	NM_000128.4(F11):c.1576+9G>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952462	NM_000128.4(F11):c.1788C>A (p.Gly596=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1704201	NM_000128.4(F11):c.1633T>C (p.Cys545Arg)	F11, F11-AS1 (C545R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1703259	Single allele	DBET, DUX4 +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1693889	NM_000128.4(F11):c.1727G>A (p.Gly576Glu)	F11, F11-AS1 (G576E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676751	NM_000128.4(F11):c.1852A>G (p.Ile618Val)	F11-AS1, F11 (I618V)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1660867	NM_000128.4(F11):c.1632G>A (p.Glu544=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630342	NM_000128.4(F11):c.1577-9T>G	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598020	NM_000128.4(F11):c.1704G>A (p.Lys568=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592297	NM_000128.4(F11):c.1731C>T (p.Gly577=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1587980	NM_000128.4(F11):c.*1del (p.Ter626=)	F11-AS1, F11	Deletion (no sequence alteration +1 more)	not provided	GLikely benign
Select item 1562389	NM_000128.4(F11):c.1731C>A (p.Gly577=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1558947	NM_000128.4(F11):c.1812G>C (p.Arg604=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1555323	NM_000128.4(F11):c.1481-9T>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1464263	NM_000128.4(F11):c.1665C>T (p.Thr555=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1459564	NM_000128.4(F11):c.1746del (p.Lys582fs)	F11, F11-AS1 (K582fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1314799	NM_000128.4(F11):c.1628A>G (p.Glu543Gly)	F11, F11-AS1 (E543G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294969	NM_000128.4(F11):c.1577-92AT[10]	F11, F11-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1285987	NM_000128.4(F11):c.1577-92AT[8]	F11, F11-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1273743	NM_000128.4(F11):c.1716+250G>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264639	NM_000128.4(F11):c.1577-93_1577-92dup	F11, F11-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1249685	NM_000128.4(F11):c.1716+248G>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246810	NM_000128.4(F11):c.1716+168G>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244175	NM_000128.4(F11):c.1577-92AT[11]	F11, F11-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1239496	NM_000128.4(F11):c.1481-215C>T	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1235315	NM_000128.4(F11):c.1577-297T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234999	NM_000128.4(F11):c.1577-148A>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185149	NM_000128.4(F11):c.1717-48A>G	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185148	NM_000128.4(F11):c.1576+51C>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185147	NM_000128.4(F11):c.1481-34G>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1169452	NM_000128.4(F11):c.1599G>A (p.Gln533=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1157246	NM_000128.4(F11):c.1830C>T (p.Asn610=)	F11-AS1, F11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1150834	NM_000128.4(F11):c.1518T>C (p.Asp506=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147724	NM_000128.4(F11):c.1560G>A (p.Gly520=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146218	NM_000128.4(F11):c.1788C>T (p.Gly596=)	F11-AS1, F11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1143417	NM_000128.4(F11):c.1779G>A (p.Thr593=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1137755	NM_000128.4(F11):c.1716+7G>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1136386	NM_000128.4(F11):c.1626C>T (p.Asn542=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112196	NM_000128.4(F11):c.1717-8C>T	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1101749	NM_000128.4(F11):c.1525G>A (p.Val509Ile)	F11, F11-AS1 (V509I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1091947	NM_000128.4(F11):c.1521A>G (p.Arg507=)	F11-AS1, F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090131	NM_000128.4(F11):c.1519A>C (p.Arg507=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088523	NM_000128.4(F11):c.1782C>T (p.Ser594=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1080283	NM_000128.4(F11):c.1725G>A (p.Ser575=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1050220	NM_000128.4(F11):c.1858G>C (p.Glu620Gln)	F11, F11-AS1 (E620Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 989876	NM_000128.4(F11):c.1767G>T (p.Leu589=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 989875	NM_000128.4(F11):c.1716+10del	F11, F11-AS1	Deletion (intron variant)	Plasma factor XI deficiency	GUncertain significance
Select item 989874	NM_000128.4(F11):c.1709C>G (p.Ala570Gly)	F11, F11-AS1 (A570G)	Single nucleotide variant (missense variant)	Plasma factor XI deficiency	GUncertain significance
Select item 989873	NM_000128.4(F11):c.1683C>T (p.Ala561=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 989872	NM_000128.4(F11):c.1625A>G (p.Asn542Ser)	F11-AS1, F11 (N542S)	Single nucleotide variant (missense variant)	Plasma factor XI deficiency	GUncertain significance
Select item 989871	NM_000128.4(F11):c.1609A>T (p.Ile537Leu)	F11, F11-AS1 (I537L)	Single nucleotide variant (missense variant)	Plasma factor XI deficiency	GUncertain significance
Select item 989870	NM_000128.4(F11):c.1579A>G (p.Lys527Glu)	F11-AS1, F11 (K527E)	Single nucleotide variant (missense variant)	Plasma factor XI deficiency	GUncertain significance
Select item 903658	NM_000128.4(F11):c.*817A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 903657	NM_000128.4(F11):c.*763T>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 903656	NM_000128.4(F11):c.*609C>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 903655	NM_000128.4(F11):c.*551A>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901709	NM_000128.4(F11):c.*448A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance

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