"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 81

	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	GBenignFDA Recognized database
Select item 812024	NM_000133.4(F9):c.38del (p.Gly13fs)	F9 (G13fs)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 1330696	NM_000133.4(F9):c.87A>G (p.Thr29=)	F9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 811977	NM_000133.4(F9):c.88+5_88+8del	F9	Microsatellite (splice donor variant)	not specified	GLikely pathogenic
Select item 811508	NM_000133.4(F9):c.88+1G>T	F9	Single nucleotide variant (splice donor variant)	not specified	GPathogenic
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 993549	NM_000133.4(F9):c.128G>T (p.Arg43Leu)	F9 (R43L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 810864	NM_000133.4(F9):c.128G>A (p.Arg43Gln)	F9 (R43Q)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 618117	NM_000133.4(F9):c.161A>T (p.Glu54Val)	F9 (E54V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 994375	NM_000133.4(F9):c.177C>A (p.Asn59Lys)	F9 (N59K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 811403	NM_000133.4(F9):c.189A>C (p.Glu63Asp)	F9 (E63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811523	NM_000133.4(F9):c.190T>C (p.Cys64Arg)	F9 (C64R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely pathogenic
Select item 618643	NM_000133.4(F9):c.196G>A (p.Glu66Lys)	F9 (E66K)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 1330991	NM_000133.4(F9):c.205T>A (p.Cys69Ser)	F9 (C69S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 994405	NM_000133.4(F9):c.206G>A (p.Cys69Tyr)	F9 (C69Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10572	NM_000133.4(F9):c.223C>T (p.Arg75Ter)	F9 (R75*)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 10573	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9 (R75Q)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 811519	NM_000133.4(F9):c.226G>A (p.Glu76Lys)	F9 (E76K)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 994019	NM_000133.4(F9):c.235G>A (p.Glu79Lys)	F9 (E79K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 811509	NM_000133.4(F9):c.252+5G>A	F9	Single nucleotide variant (intron variant)	not specified	GPathogenic
Select item 811521	NM_000133.4(F9):c.260T>G (p.Phe87Cys)	F9 (F87C)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 994410	NM_000133.4(F9):c.277G>A (p.Asp93Asn)	F9 (D93N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10578	NM_000133.4(F9):c.301C>G (p.Pro101Ala)	F9 (P101A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 811522	NM_000133.4(F9):c.304T>C (p.Cys102Arg)	F9 (C102R)	Single nucleotide variant (missense variant +1 more)	not specified	GPathogenic
Select item 10579	NM_000133.4(F9):c.316G>A (p.Gly106Ser)	F9 (G106S)	Single nucleotide variant (missense variant +1 more)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 810872	NM_000133.4(F9):c.344A>G (p.Tyr115Cys)	F9 (Y115C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GPathogenic
Select item 810873	NM_000133.4(F9):c.354G>A (p.Trp118Ter)	F9 (W118*)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GPathogenic
Select item 367999	NM_000133.4(F9):c.391+7A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease	GBenignFDA Recognized database
Select item 811514	NM_000133.4(F9):c.392-1G>C	F9	Single nucleotide variant (splice acceptor variant)	not specified	GPathogenic
Select item 810876	NM_000133.4(F9):c.416G>A (p.Gly139Asp)	F9 (G101D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 811510	NM_000133.4(F9):c.422G>A (p.Cys141Tyr)	F9 (C103Y +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 811511	NM_000133.4(F9):c.427C>T (p.Gln143Ter)	F9 (Q105* +1 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 811515	NM_000133.4(F9):c.459G>A (p.Val153=)	F9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely pathogenic
Select item 993550	NM_000133.4(F9):c.471T>A (p.Cys157Ter)	F9 (C119* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 10640	NM_000133.4(F9):c.484C>T (p.Arg162Ter)	F9 (R162* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia, X-linked, due to factor 9 defect +2 more	GPathogenic
Select item 811517	NM_000133.4(F9):c.509G>A (p.Cys170Tyr)	F9 (C132Y +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 993386	NM_000133.4(F9):c.517G>A (p.Ala173Thr)	F9 (A135T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811516	NM_000133.4(F9):c.520G>A (p.Val174Met)	F9 (V136M +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
Select item 811518	NM_000133.4(F9):c.533G>T (p.Cys178Phe)	F9 (C140F +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 862249	NM_000133.4(F9):c.545_546del (p.Ser182fs)	F9 (S144fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 10588	NM_000133.4(F9):c.580A>G (p.Thr194Ala)	F9 (T194A +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GBenignFDA Recognized database
Select item 811406	NM_000133.4(F9):c.613A>G (p.Thr205Ala)	F9 (T167A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 10590	NM_000133.4(F9):c.676C>T (p.Arg226Trp)	F9 (R226W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 811503	NM_000133.4(F9):c.719G>A (p.Trp240Ter)	F9 (W202* +1 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 810867	NM_000133.4(F9):c.720G>A (p.Trp240Ter)	F9 (W202* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 810870	NM_000133.4(F9):c.723+1G>A	F9	Single nucleotide variant (splice donor variant)	not specified	GPathogenic
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 1331027	NM_000133.4(F9):c.786T>G (p.Ile262Met)	F9 (I224M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 810877	NM_000133.4(F9):c.803G>T (p.Cys268Phe)	F9 (C230F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 216926	NM_000133.4(F9):c.835G>A (p.Ala279Thr)	F9 (A279T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 1331043	NM_000133.4(F9):c.839-1G>A	F9	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 10587	NM_000133.4(F9):c.880C>T (p.Arg294Ter)	F9 (R294* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 10603	NM_000133.4(F9):c.892C>T (p.Arg298Ter)	F9 (R298* +1 more)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic
Select item 618645	NM_000133.4(F9):c.934T>G (p.Tyr312Asp)	F9 (Y312D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811502	NM_000133.4(F9):c.947T>C (p.Ile316Thr)	F9 (I278T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely 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	GPathogenicFDA Recognized database
Select item 10647	NM_000133.4(F9):c.1070G>A (p.Gly357Glu)	F9 (G357E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 810862	NM_000133.4(F9):c.1078T>A (p.Phe360Ile)	F9 (F322I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 368002	NM_000133.4(F9):c.1095A>G (p.Ser365=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GBenignFDA Recognized database
Select item 811407	NM_000133.4(F9):c.1106_1113del (p.Leu369fs)	F9 (L331fs +1 more)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 368003	NM_000133.4(F9):c.1110G>A (p.Gln370=)	F9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 811506	NM_000133.4(F9):c.1113C>A (p.Tyr371Ter)	F9 (Y333* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 10639	NM_000133.4(F9):c.1120G>T (p.Val374Phe)	F9 (V374F +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 10612	NM_000133.4(F9):c.1135C>T (p.Arg379Ter)	F9 (R379* +1 more)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic
Select item 10613	NM_000133.4(F9):c.1136G>A (p.Arg379Gln)	F9 (R341Q)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +4 more	GPathogenic
Select item 116175	NM_000133.4(F9):c.1144T>A (p.Cys382Ser)	F9 (C382S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 10615	NM_000133.4(F9):c.1150C>T (p.Arg384Ter)	F9 (R384* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia, X-linked, due to factor 9 defect +3 more	GPathogenic
Select item 810868	NM_000133.4(F9):c.1173T>A (p.Tyr391Ter)	F9 (Y353* +1 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 810869	NM_000133.4(F9):c.1174A>G (p.Asn392Asp)	F9 (N354D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely pathogenic
Select item 810871	NM_000133.4(F9):c.1186T>A (p.Cys396Ser)	F9 (C358S +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 1330832	NM_000133.4(F9):c.1196T>C (p.Phe399Ser)	F9 (F361S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994026	NM_000133.4(F9):c.1229A>T (p.Asp410Val)	F9 (D372V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 811507	NM_000133.4(F9):c.1241C>T (p.Pro414Leu)	F9 (P376L +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 618116	NM_000133.4(F9):c.1256T>G (p.Val419Gly)	F9 (V419G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 618644	NM_000133.4(F9):c.1289G>A (p.Ser430Asn)	F9 (S430N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 812043	NM_000133.4(F9):c.1290C>A (p.Ser430Arg)	F9 (S392R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 811512	NM_000133.4(F9):c.1304G>A (p.Cys435Tyr)	F9 (C397Y +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenicFDA Recognized database
Select item 811513	NM_000133.4(F9):c.1325G>A (p.Gly442Glu)	F9 (G404E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
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)	Hereditary factor VIII deficiency disease +4 more	GConflicting classifications of pathogenicity
Select item 810865	NM_000133.4(F9):c.1361T>C (p.Ile454Thr)	F9 (I416T +1 more)	Single nucleotide variant (missense variant)	not specified	GPathogenic

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Items: 81