C0019069[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10573	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9 (R75Q)	Single nucleotide variant (missense variant)	not provided +4 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 10602	NM_000133.4(F9):c.881G>A (p.Arg294Gln)	F9 (R294Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +3 more	GPathogenic
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 10611	NM_000133.4(F9):c.1069G>A (p.Gly357Arg)	F9 (G357R +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 10613	NM_000133.4(F9):c.1136G>A (p.Arg379Gln)	F9 (R341Q)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 10124	NC_000023.11:g.(154805077_154806947)_(155030999_?)del	F8, F8A1 +16 more	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10123	NC_000023.11:g.(?_154835791)_(154837753_?)del	F8	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10126	NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)	F8 (R2326Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 10109	NM_000132.4(F8):c.6977G>T (p.Arg2326Leu)	F8 (R2326L +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10085	NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)	F8 (R2326* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10334	NM_000132.4(F8):c.6968G>A (p.Arg2323His)	F8 (R2323H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10333	NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)	F8 (R2323C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic/Likely pathogenic
Select item 10332	NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)	F8 (P2319L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10147	NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)	F8 (P2319S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 10331	NM_000132.4(F8):c.6914_6918del (p.Asn2305fs)	F8 (N170fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10330	NM_000132.4(F8):c.6865C>T (p.Gln2289Ter)	F8 (Q2289* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10329	NM_000132.4(F8):c.6794_6795del (p.Gln2265fs)	F8 (Q2265fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10328	NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)	F8 (Q2265R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10327	NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)	F8 (W2248C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10326	NM_000132.4(F8):c.6699del (p.Arg2234fs)	F8 (R2234fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10324	NM_000132.4(F8):c.6683G>T (p.Arg2228Leu)	F8 (R2228L +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10098	NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)	F8 (R2228Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 10325	NM_000132.4(F8):c.6682C>G (p.Arg2228Gly)	F8 (R2228G +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10086	NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)	F8 (R2228* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 10323	NM_000132.4(F8):c.6670_6672del (p.Pro2224del)	F8 (P2224del +1 more)	Deletion (inframe_deletion)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10322	NM_000132.4(F8):c.6631G>C (p.Ala2211Pro)	F8 (A2211P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10127	NM_000132.4(F8):c.6554T>C (p.Leu2185Ser)	F8 (L2185S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10320	NM_000132.4(F8):c.6545G>A (p.Arg2182His)	F8 (R2182H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10321	NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)	F8 (R2182C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 10319	NM_000132.4(F8):c.6533G>A (p.Arg2178His)	F8 (R2178H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 10314	NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)	F8 (R2178L +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic/Likely pathogenic
Select item 10318	NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)	F8 (R2178C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 10317	NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)	F8 (T2173I +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10316	NM_000132.4(F8):c.6515C>A (p.Pro2172Gln)	F8 (P2172Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10315	NM_000132.4(F8):c.6506G>A (p.Arg2169His)	F8 (R2169H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic
Select item 10096	NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)	F8 (R2166* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10313	NM_000132.4(F8):c.6464_6465del (p.Lys2155fs)	F8 (K20fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10122	NC_000023.11:g.(154863228_154896077)_(155022724_?)del	F8, F8A1 +8 more	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10312	NM_000132.4(F8):c.6412_6413del (p.Ser2138fs)	F8 (S2138fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10311	NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr)	F8 (S2138Y)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10128	NM_000132.4(F8):c.6404G>C (p.Arg2135Pro)	F8 (R2135P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10088	NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)	F8 (R2135*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 10310	NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)	F8 (Y2124C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 10309	NM_000132.4(F8):c.6360T>G (p.Phe2120Leu)	F8 (F2120L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10308	NM_000132.4(F8):c.6278A>G (p.Asp2093Gly)	F8 (D2093G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10307	NM_000132.4(F8):c.6263C>T (p.Ser2088Phe)	F8 (S2088F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10306	NM_000132.4(F8):c.6193T>C (p.Trp2065Arg)	F8 (W2065R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10305	NM_000132.4(F8):c.6113A>G (p.Asn2038Ser)	F8 (N2038S)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10302	NM_000132.4(F8):c.6049del (p.Val2017fs)	F8 (V2017fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10304	NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)	F8 (R2016W)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10303	NM_000132.4(F8):c.6016G>T (p.Glu2006Ter)	F8 (E2006*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10301	NM_000132.4(F8):c.5961del (p.Glu1988fs)	F8 (E1988fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10300	NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)	F8 (R1985*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10299	NM_000132.4(F8):c.5938C>T (p.His1980Tyr)	F8 (H1980Y)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10298	NM_000132.4(F8):c.5936G>T (p.Gly1979Val)	F8 (G1979V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10297	NM_000132.4(F8):c.5900G>A (p.Gly1967Asp)	F8 (G1967D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10296	NM_000132.4(F8):c.5882G>A (p.Trp1961Ter)	F8 (W1961*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10295	NM_000132.4(F8):c.5879G>T (p.Arg1960Leu)	F8 (R1960L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10110	NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	F8 (R1960Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10118	NM_000132.4(F8):c.5878C>T (p.Arg1960Ter)	F8 (R1960*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10294	NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)	F8 (N1941S)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10140	NM_000132.4(F8):c.5821A>G (p.Asn1941Asp)	F8 (N1941D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10293	NM_000132.4(F8):c.5719dup (p.Ser1907fs)	F8 (S1907fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10292	NM_000132.4(F8):c.5710G>A (p.Glu1904Lys)	F8 (E1904K)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10291	NM_000132.4(F8):c.5677C>T (p.Gln1893Ter)	F8 (Q1893*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10290	NM_000132.4(F8):c.5622dup (p.Leu1875fs)	F8 (L1875fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10289	NM_000132.4(F8):c.5618C>G (p.Pro1873Arg)	F8 (P1873R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10288	NM_000132.4(F8):c.5600A>G (p.His1867Arg)	F8 (H1867R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 10287	NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr)	F8 (D1865Y)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10286	NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)	F8 (D1865N)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10285	NM_000132.4(F8):c.5586G>A (p.Leu1862=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10284	NM_000132.4(F8):c.5558C>T (p.Ala1853Val)	F8 (A1853V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10282	NM_000132.4(F8):c.5533A>C (p.Thr1845Pro)	F8 (T1845P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10281	NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)	F8 (P1844S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenic
Select item 10280	NM_000132.4(F8):c.5526G>A (p.Met1842Ile)	F8 (M1842I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10283	NM_000132.4(F8):c.5479A>T (p.Lys1827Ter)	F8 (K1827*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10346	NM_000132.4(F8):c.5374-224_5453delinsT	F8	Indel (splice acceptor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10279	NM_000132.4(F8):c.5443C>T (p.Gln1815Ter)	F8 (Q1815*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10278	NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)	F8 (L1808F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 10277	NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr)	F8 (S1803Y)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10274	NM_000132.4(F8):c.5399G>A (p.Arg1800His)	F8 (R1800H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10276	NM_000132.4(F8):c.5398C>G (p.Arg1800Gly)	F8 (R1800G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10275	NM_000132.4(F8):c.5398C>T (p.Arg1800Cys)	F8 (R1800C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10148	NM_000132.4(F8):c.5372T>C (p.Met1791Thr)	F8 (M1791T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10273	NM_000132.4(F8):c.5336G>A (p.Gly1779Glu)	F8 (G1779E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10272	NM_000132.4(F8):c.5325G>C (p.Leu1775Phe)	F8 (L1775F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10271	NM_000132.4(F8):c.5323T>G (p.Leu1775Val)	F8 (L1775V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10270	NM_000132.4(F8):c.5305G>A (p.Gly1769Arg)	F8 (G1769R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10131	NM_000132.3(F8):c.2114-?_5219+?del (p.?)	F8	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10269	NM_000132.4(F8):c.5220-2A>G	F8	Single nucleotide variant (splice acceptor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10116	NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys)	F8 (Y1728C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10146	NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)	F8 (E1723K)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10268	NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)	F8 (R1715G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 10267	NM_000132.4(F8):c.5143C>T (p.Arg1715Ter)	F8 (R1715*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10266	NM_000132.4(F8):c.5123G>A (p.Arg1708His)	F8 (R1708H)	Single nucleotide variant (missense variant)	Abnormality of coagulation +2 more	GPathogenic/Likely pathogenic
Select item 10114	NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)	F8 (R1708C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 10112	NM_000132.4(F8):c.5113C>T (p.Gln1705Ter)	F8 (Q1705*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 10115	NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)	F8 (Y1699F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 10265	NM_000132.4(F8):c.4900G>T (p.Glu1634Ter)	F8 (E1634*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic

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