"Fulgent Genetics, Fulgent Genetics"[submitter] AND "F11"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 497493	NM_000128.4(F11):c.3G>T (p.Met1Ile)	F11 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GLikely pathogenic
Select item 189122	NM_000128.4(F11):c.67C>T (p.Gln23Ter)	F11 (Q23*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554481	NM_000128.4(F11):c.325+5G>T	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
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 554924	NM_000128.4(F11):c.422C>T (p.Thr141Met)	F11 (T141M)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
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 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 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 449563	NM_000128.4(F11):c.841C>T (p.Gln281Ter)	F11 (Q281*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 188727	NM_000128.4(F11):c.1075del (p.Ile359fs)	F11 (I359fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 189115	NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	F11 (Y369*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554679	NM_000128.4(F11):c.1234C>T (p.Gln412Ter)	F11 (Q412*)	Single nucleotide variant (nonsense)	not provided +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 189138	NM_000128.4(F11):c.1313C>A (p.Ser438Ter)	F11 (S438*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GPathogenic/Likely pathogenic
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 989873	NM_000128.4(F11):c.1683C>T (p.Ala561=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 20