"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695909	NM_000133.4(F9):c.8G>A (p.Arg3His)	F9 (R3H)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GBenign FDA Recognized database
Select item 811505	NM_000133.4(F9):c.127C>T (p.Arg43Trp)	F9 (R43W)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 10572	NM_000133.4(F9):c.223C>T (p.Arg75Ter)	F9 (R75*)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 10573	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9 (R75Q)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +4 more	GPathogenic/Likely pathogenic
Select item 3068760	NM_000133.4(F9):c.277+5G>A	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 2573371	NM_000133.4(F9):c.374G>A (p.Gly125Glu)	F9 (G125E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1439880	NM_000133.4(F9):c.392-7_392-4del	F9	Deletion (intron variant)	Hereditary factor IX deficiency disease +2 more	GUncertain significance
Select item 2581596	NM_000133.4(F9):c.424G>C (p.Glu142Gln)	F9 (E104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506140	NM_000133.4(F9):c.466T>C (p.Ser156Pro)	F9 (S118P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811516	NM_000133.4(F9):c.520G>A (p.Val174Met)	F9 (V136M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely pathogenic
Select item 2691579	NM_000133.4(F9):c.520+19T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +2 more	GLikely benign
Select item 10584	NM_000133.4(F9):c.571C>T (p.Arg191Cys)	F9 (R191C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic/Likely pathogenic
Select item 10585	NM_000133.4(F9):c.572G>A (p.Arg191His)	F9 (R191H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 10590	NM_000133.4(F9):c.676C>T (p.Arg226Trp)	F9 (R226W +1 more)	Single nucleotide variant (missense variant)	F9-related condition +3 more	GPathogenic/Likely pathogenic
Select item 2577225	NM_000133.4(F9):c.682G>A (p.Val228Ile)	F9 (V190I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811504	NM_000133.4(F9):c.731T>C (p.Leu244Ser)	F9 (L206S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 1804647	NM_000133.4(F9):c.853G>T (p.Glu285Ter)	F9 (E247* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 10602	NM_000133.4(F9):c.881G>A (p.Arg294Gln)	F9 (R294Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic
Select item 2627159	NM_000133.4(F9):c.971C>A (p.Pro324His)	F9 (P286H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698458	NM_000133.4(F9):c.997C>T (p.Pro333Ser)	F9 (P295S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691657	NM_000133.4(F9):c.1004G>T (p.Cys335Phe)	F9 (C297F +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 10607	NM_000133.4(F9):c.1025C>T (p.Thr342Met)	F9 (T342M +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
Select item 2581701	NM_000133.4(F9):c.1086del (p.Arg364fs)	F9 (R326fs +1 more)	Deletion (frameshift variant)	Hereditary factor IX deficiency disease	GPathogenic
Select item 1512896	NM_000133.4(F9):c.1105C>T (p.Leu369Phe)	F9 (L331F +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 10613	NM_000133.4(F9):c.1136G>A (p.Arg379Gln)	F9 (R341Q)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +3 more	GPathogenic
Select item 573753	NM_000133.4(F9):c.1148T>C (p.Leu383Pro)	F9 (L383P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +2 more	GUncertain significance
Select item 2577226	NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)	F9 (N355del +1 more)	Microsatellite (inframe_deletion +1 more)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 10627	NM_000133.4(F9):c.1328T>C (p.Ile443Thr)	F9 (I443T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 626990	NM_000133.4(F9):c.1345C>T (p.Arg449Trp)	F9 (R449W +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +4 more	GConflicting classifications of pathogenicity
Select item 1685804	NM_000133.4(F9):c.1346G>A (p.Arg449Gln)	F9 (R411Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 627188	NM_000133.4(F9):c.*1157A>G	F9	Single nucleotide variant (3 prime UTR variant)	Thrombophilia, X-linked, due to factor 9 defect +2 more	GPathogenic/Likely pathogenic

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Items: 31