"Illumina Laboratory Services, Illumina"[submitter] AND "F11"[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 348367	NM_000128.3(F11):c.-326C>G	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348368	NM_000128.3(F11):c.-316C>G	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GBenign
Select item 348369	NM_000128.3(F11):c.-300C>T	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899920	NM_000128.3(F11):c.-233C>T	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348370	NM_000128.3(F11):c.-183T>C	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899921	NM_000128.3(F11):c.-164G>A	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899922	NM_000128.4(F11):c.-70G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899923	NM_000128.4(F11):c.-57G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348371	NM_000128.4(F11):c.-54G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease +1 more	GBenign/Likely benign
Select item 901093	NM_000128.4(F11):c.56-6T>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 348372	NM_000128.4(F11):c.219-11T>A	F11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188810	NM_000128.4(F11):c.325G>A (p.Ala109Thr)	F11 (A109T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348373	NM_000128.4(F11):c.345T>C (p.Tyr115=)	F11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188913	NM_000128.4(F11):c.400C>T (p.Gln134Ter)	F11 (Q134*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 11891	NM_000128.4(F11):c.403G>T (p.Glu135Ter)	F11 (E135*)	Single nucleotide variant (nonsense)	F11-related condition +3 more	GPathogenic
Select item 255180	NM_000128.4(F11):c.429C>T (p.Asp143=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +2 more	GBenign
Select item 767985	NM_000128.4(F11):c.453C>T (p.Tyr151=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GBenign/Likely benign
Select item 631944	NM_000128.4(F11):c.478G>T (p.Glu160Ter)	F11 (E160*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348374	NM_000128.4(F11):c.499C>T (p.Leu167=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 731217	NM_000128.4(F11):c.539A>G (p.Lys180Arg)	F11 (K180R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GBenign
Select item 761229	NM_000128.4(F11):c.596-6G>A	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 901641	NM_000128.4(F11):c.642C>T (p.Asn214=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 763423	NM_000128.4(F11):c.696T>C (p.His232=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 627369	NM_000128.4(F11):c.731A>G (p.Gln244Arg)	F11 (Q244R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255181	NM_000128.4(F11):c.801A>G (p.Thr267=)	F11	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 11902	NM_000128.4(F11):c.809A>T (p.Lys270Ile)	F11 (K270I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720105	NM_000128.4(F11):c.861C>T (p.Ile287=)	F11	Single nucleotide variant (synonymous variant)	not provided +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)	Factor XI +3 more	GPathogenic
Select item 348375	NM_000128.4(F11):c.1016G>T (p.Cys339Phe)	F11 (C339F)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +2 more	GBenign/Likely benign
Select item 781735	NM_000128.4(F11):c.1020C>T (p.Asn340=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 348376	NM_000128.4(F11):c.1028+9T>C	F11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903590	NM_000128.4(F11):c.1029-11T>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 255176	NM_000128.4(F11):c.1191T>C (p.Gly397=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +2 more	GBenign
Select item 348377	NM_000128.4(F11):c.1200G>A (p.Pro400=)	F11	Single nucleotide variant (synonymous variant)	F11-related condition +2 more	GConflicting classifications of pathogenicity
Select item 903591	NM_000128.4(F11):c.1219A>G (p.Thr407Ala)	F11 (T407A)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
Select item 371565	NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)	F11 (C416Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 903592	NM_000128.4(F11):c.1304+12G>A	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +3 more	GConflicting classifications of pathogenicity
Select item 903593	NM_000128.4(F11):c.1305-14T>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 287099	NM_000128.4(F11):c.1305-9G>T	F11	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 348378	NM_000128.4(F11):c.1325del (p.Leu442fs)	F11 (L442fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 899995	NM_000128.4(F11):c.1416T>C (p.Tyr472=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 348379	NM_000128.4(F11):c.1431C>T (p.Ser477=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 899996	NM_000128.4(F11):c.1480+4C>T	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 370461	NM_000128.4(F11):c.1481-1G>T	F11, F11-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 348380	NM_000128.4(F11):c.1707C>T (p.Asp569=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 11890	NM_000128.4(F11):c.1716+1G>A	F11, F11-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 899997	NM_000128.4(F11):c.1777A>G (p.Thr593Ala)	F11, F11-AS1 (T593A)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 255178	NM_000128.4(F11):c.1812G>T (p.Arg604=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 899998	NM_000128.4(F11):c.1836C>T (p.Val612=)	F11-AS1, F11	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 255179	NM_000128.4(F11):c.1839G>A (p.Glu613=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 901156	NM_000128.4(F11):c.1842C>T (p.Tyr614=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 737971	NM_000128.4(F11):c.1843G>A (p.Val615Met)	F11, F11-AS1 (V615M)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GLikely benign
Select item 901157	NM_000128.4(F11):c.*1A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease +1 more	GBenign/Likely benign
Select item 901158	NM_000128.4(F11):c.*174C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901159	NM_000128.4(F11):c.*175C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GBenign
Select item 901160	NM_000128.4(F11):c.*186C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GBenign
Select item 348381	NM_000128.4(F11):c.*262A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348382	NM_000128.4(F11):c.*265A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348383	NM_000128.4(F11):c.*296G>C	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 348384	NM_000128.4(F11):c.*322G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GBenign
Select item 901706	NM_000128.4(F11):c.*346A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901707	NM_000128.4(F11):c.*404A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901708	NM_000128.4(F11):c.*445C>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
Select item 348385	NM_000128.4(F11):c.*479A>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GBenign
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 348386	NM_000128.4(F11):c.*576G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348387	NM_000128.4(F11):c.*584A>T	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 348388	NM_000128.4(F11):c.*636A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348389	NM_000128.4(F11):c.*728T>C	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 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 348390	NM_000128.4(F11):c.*822A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 900063	NM_000128.4(F11):c.*846T>C	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348391	NM_000128.4(F11):c.*852G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GBenign
Select item 900064	NM_000128.4(F11):c.*884C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GLikely benign
Select item 348392	NM_000128.4(F11):c.*885G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GBenign
Select item 348393	NM_000128.4(F11):c.*902G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348394	NM_000128.4(F11):c.*928G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 900065	NM_000128.4(F11):c.*933C>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348395	NM_000128.4(F11):c.*952G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348396	NM_000128.4(F11):c.*974ATT[1]	F11, F11-AS1	Microsatellite (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348397	NM_000128.4(F11):c.*1033A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901220	NM_000128.4(F11):c.*1039G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic

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Items: 86