"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626944	NM_000128.4(F11):c.-2G>C	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 68192	NM_000128.4(F11):c.302A>G (p.Lys101Arg)	F11 (K101R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 626957	NM_000128.4(F11):c.343del (p.Tyr115fs)	F11 (Y115fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 626962	NM_000128.4(F11):c.359T>C (p.Met120Thr)	F11 (M120T)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 627202	NM_000128.4(F11):c.365G>A (p.Gly122Asp)	F11 (G122D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 188913	NM_000128.4(F11):c.400C>T (p.Gln134Ter)	F11 (Q134*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 11891	NM_000128.4(F11):c.403G>T (p.Glu135Ter)	F11 (E135*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +2 more	GPathogenic
Select item 188914	NM_000128.4(F11):c.408C>A (p.Cys136Ter)	F11 (C136*)	Single nucleotide variant (nonsense)	Abnormal bleeding +2 more	GPathogenic/Likely pathogenic
Select item 11896	NM_000128.4(F11):c.438C>A (p.Cys146Ter)	F11 (C146*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555711	NM_000128.4(F11):c.449C>T (p.Thr150Met)	F11 (T150M)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 550222	NM_000128.4(F11):c.599G>A (p.Cys200Tyr)	F11 (C200Y)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 627105	NM_000128.4(F11):c.634G>A (p.Asp212Asn)	F11 (D212N)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 68195	NM_000128.4(F11):c.664G>T (p.Asp222Tyr)	F11 (D222Y)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 627368	NM_000128.4(F11):c.728C>T (p.Ser243Phe)	F11 (S243F)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 627369	NM_000128.4(F11):c.731A>G (p.Gln244Arg)	F11 (Q244R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 552888	NM_000128.4(F11):c.755+2T>C	F11	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555638	NM_000128.4(F11):c.783G>C (p.Glu261Asp)	F11 (E261D)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 627142	NM_000128.4(F11):c.802C>T (p.Arg268Cys)	F11 (R268C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11902	NM_000128.4(F11):c.809A>T (p.Lys270Ile)	F11 (K270I)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 11892	NM_000128.4(F11):c.901T>C (p.Phe301Leu)	F11 (F301L)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +2 more	GPathogenic
Select item 189129	NM_000128.4(F11):c.908del (p.Gly303fs)	F11 (G303fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 68204	NM_000128.4(F11):c.943G>A (p.Glu315Lys)	F11 (E315K)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 11898	NM_000128.4(F11):c.976C>T (p.Arg326Cys)	F11 (R326C)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GLikely pathogenic
Select item 626972	NM_000128.4(F11):c.1106A>G (p.Tyr369Cys)	F11 (Y369C)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 626976	NM_000128.4(F11):c.1118T>C (p.Leu373Ser)	F11 (L373S)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 626977	NM_000128.4(F11):c.1120T>C (p.Cys374Arg)	F11 (C374R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 627211	NM_000128.4(F11):c.1137G>C (p.Glu379Asp)	F11 (E379D)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 626978	NM_000128.4(F11):c.1192G>A (p.Glu398Lys)	F11 (E398K)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 381729	NM_000128.4(F11):c.1199C>T (p.Pro400Leu)	F11 (P400L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 68173	NM_000128.4(F11):c.1207G>A (p.Val403Met)	F11 (V403M)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 291081	NM_000128.4(F11):c.1288G>A (p.Ala430Thr)	F11 (A430T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 627226	NM_000128.4(F11):c.1305-5C>T	F11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348378	NM_000128.4(F11):c.1325del (p.Leu442fs)	F11 (L442fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 626987	NM_000128.4(F11):c.1328G>A (p.Arg443His)	F11 (R443H)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 285379	NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	F11 (G478R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 280137	NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	F11, F11-AS1 (R497*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188887	NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	F11, F11-AS1 (W519*)	Single nucleotide variant (nonsense)	Abnormal bleeding +2 more	GPathogenic/Likely pathogenic
Select item 189154	NM_000128.4(F11):c.1613C>T (p.Pro538Leu)	F11-AS1, F11 (P538L)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GPathogenic/Likely pathogenic
Select item 627256	NM_000128.4(F11):c.1646A>G (p.Tyr549Cys)	F11, F11-AS1 (Y549C)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 68186	NM_000128.4(F11):c.1693G>A (p.Glu565Lys)	F11, F11-AS1 (E565K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 627014	NM_000128.4(F11):c.1699G>A (p.Gly567Arg)	F11, F11-AS1 (G567R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 627018	NM_000128.4(F11):c.1751A>T (p.Asn584Ile)	F11, F11-AS1 (N584I)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 627021	NM_000128.4(F11):c.1772G>C (p.Gly591Ala)	F11-AS1, F11 (G591A)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 371214	NM_000128.4(F11):c.1778C>T (p.Thr593Met)	F11, F11-AS1 (T593M)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 11900	NM_000128.4(F11):c.1782C>A (p.Ser594Arg)	F11, F11-AS1 (S594R)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GPathogenic/Likely pathogenic
Select item 813261	Single allele	CYP4V2, F11 +1 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 627505	Single allele	F11	Deletion	Hereditary factor X deficiency disease	GLikely pathogenic

ClinVar

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Items: 47