hema tingens - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802020	NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)	TBL1XR1 (Y308C +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GPathogenic/Likely pathogenic
Select item 372701	NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)	TBL1XR1-AS1, LOC126806878 +1 more (D370N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1362446	NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe)	LOC126806878, TBL1XR1 +1 more (S279F +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2500267	NM_024665.7(TBL1XR1):c.1047+1G>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (splice donor variant)	Pierpont syndrome	GPathogenic
Select item 2136884	NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)	CDH23 (E1701K)	Single nucleotide variant (missense variant)	Usher syndrome +3 more	GLikely pathogenic
Select item 1803277	NM_000552.5(VWF):c.2308C>T (p.Pro770Ser)	VWF (P770S)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2775419	NM_000131.4(F7):c.-96C>A	F7	Single nucleotide variant	Hemophilia	GUncertain significance
Select item 1021451	NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)	GALNS (G16E +2 more)	Single nucleotide variant (missense variant)	Morquio syndrome +3 more	GPathogenic/Likely pathogenic
Select item 800356	NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala)	LMAN1 (V393A)	Single nucleotide variant (missense variant)	Factor V deficiency +2 more	GUncertain significance
Select item 627400	NM_000133.4(F9):c.88G>C (p.Val30Leu)	F9 (V30L)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 627155	NM_000133.4(F9):c.88+1G>A	F9	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 627156	NM_000133.4(F9):c.88+5G>T	F9	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 10573	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9 (R75Q)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +4 more	GPathogenic/Likely pathogenic
Select item 627177	NM_000133.4(F9):c.407T>C (p.Ile136Thr)	F9 (I136T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 627180	NM_000133.4(F9):c.520+13A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 627496	NM_000133.4(F9):c.521-35_723+84del	F9	Deletion (splice acceptor variant +1 more)	Hereditary factor VIII deficiency disease	GPathogenic
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 627366	NM_000133.4(F9):c.724-5_731del	F9	Deletion (splice acceptor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 627130	NM_000133.4(F9):c.757G>A (p.Gly253Arg)	F9 (G253R +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 627143	NM_000133.4(F9):c.802T>A (p.Cys268Ser)	F9 (C268S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	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	GPathogenic FDA Recognized database
Select item 627146	NM_000133.4(F9):c.845A>G (p.His282Arg)	F9 (H282R +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GConflicting classifications of pathogenicity
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 626950	NM_000133.4(F9):c.1009G>A (p.Ala337Thr)	F9 (A337T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GPathogenic FDA Recognized database
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 IX deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 626973	NM_000133.4(F9):c.1106T>C (p.Leu369Pro)	F9 (L369P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +2 more	GLikely pathogenic
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 626990	NM_000133.4(F9):c.1345C>T (p.Arg449Trp)	F9 (R449W +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 627188	NM_000133.4(F9):c.*1157A>G	F9	Single nucleotide variant (3 prime UTR variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
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 914800	NM_000132.4(F8):c.*1731T>C	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 368105	NM_000132.4(F8):c.*1672G>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GBenign
Select item 368106	NM_000132.4(F8):c.*1416G>T	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GBenign
Select item 912835	NM_000132.4(F8):c.*1379A>G	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 912836	NM_000132.4(F8):c.*1362A>T	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 368107	NM_000132.4(F8):c.*1214G>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GBenign
Select item 368108	NM_000132.4(F8):c.*1175G>C	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 368109	NM_000132.4(F8):c.*1166A>G	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 912837	NM_000132.4(F8):c.*1017C>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 913205	NM_000132.4(F8):c.*1001C>T	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GBenign
Select item 913206	NM_000132.4(F8):c.*992A>G	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 913207	NM_000132.4(F8):c.*975A>G	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 913208	NM_000132.4(F8):c.*915G>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 913209	NM_000132.4(F8):c.*908T>G	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 368110	NM_000132.4(F8):c.*862A>G	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 913210	NM_000132.4(F8):c.*460G>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 368111	NM_000132.4(F8):c.*426G>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 914334	NM_000132.4(F8):c.*288C>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 914335	NM_000132.4(F8):c.*176G>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 368113	NM_000132.4(F8):c.*78C>T	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 914336	NM_000132.4(F8):c.*30G>A	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 368114	NM_000132.4(F8):c.*29C>T	F8	Single nucleotide variant (3 prime UTR variant)	Hereditary factor VIII deficiency disease	GBenign
Select item 993916	NM_000132.4(F8):c.7021G>A (p.Glu2341Lys)	F8 (E206K +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3242381	NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)	F8 (R204W +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic FDA Recognized database
Select item 993831	NM_000132.4(F8):c.6995G>A (p.Trp2332Ter)	F8 (W197* +1 more)	Single nucleotide variant (nonsense)	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 VIII 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 1331083	NM_000132.4(F8):c.6975del (p.Arg2326fs)	F8 (R191fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1684377	NM_000132.4(F8):c.6968G>C (p.Arg2323Pro)	F8 (R188P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
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 1330667	NM_000132.4(F8):c.6959T>G (p.Leu2320Ter)	F8 (L185* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330566	NM_000132.4(F8):c.6956dup (p.Leu2320fs)	F8 (L185fs +1 more)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic/Likely pathogenic
Select item 368115	NM_000132.4(F8):c.6957G>A (p.Pro2319=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 10332	NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)	F8 (P2319L +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 10147	NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)	F8 (P2319S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1685781	NM_000132.4(F8):c.6951C>G (p.Asp2317Glu)	F8 (D182E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 627123	NM_000132.4(F8):c.6932C>A (p.Pro2311His)	F8 (P2311H +1 more)	Single nucleotide variant (missense variant)	Abnormality of coagulation +1 more	GLikely pathogenic
Select item 914337	NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)	F8 (T175I +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GConflicting classifications of pathogenicity
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 2444177	NM_000132.4(F8):c.6900+1G>C	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 973809	NM_000132.4(F8):c.6876_6877del (p.Phe2294fs)	F8 (F2294fs +1 more)	Microsatellite (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 368116	NM_000132.4(F8):c.6871A>G (p.Thr2291Ala)	F8 (T2291A +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GUncertain significance
Select item 973800	NM_000132.4(F8):c.6868T>C (p.Trp2290Arg)	F8 (W155R +1 more)	Single nucleotide variant (missense 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 811460	NM_000132.4(F8):c.6849C>T (p.Ser2283=)	F8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1098499	NM_000132.4(F8):c.6834G>T (p.Glu2278Asp)	F8 (E143D +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2683963	NM_000132.4(F8):c.6821T>C (p.Met2274Thr)	F8 (M139T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 973802	NM_000132.4(F8):c.6812T>C (p.Leu2271Pro)	F8 (L136P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
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)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 41001	NM_000132.4(F8):c.6769A>G (p.Met2257Val)	F8 (M2257V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GBenign FDA Recognized database
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 225353	NM_000132.4(F8):c.6724G>A (p.Val2242Met)	F8 (V2242M +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GConflicting classifications of pathogenicity
Select item 994123	NM_000132.4(F8):c.6719C>T (p.Pro2240Leu)	F8 (P105L +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 973796	NM_000132.4(F8):c.6713G>A (p.Trp2238Ter)	F8 (W103* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2664817	NM_000132.4(F8):c.6710C>T (p.Ala2237Val)	F8 (A102V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1098500	NM_000132.4(F8):c.6709G>T (p.Ala2237Ser)	F8 (A102S +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
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 995657	NM_000132.4(F8):c.6697G>T (p.Gly2233Trp)	F8 (G2233W +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330618	NM_000132.4(F8):c.6696A>G (p.Gln2232=)	F8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 VIII 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 973794	NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)	F8 (A2227T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 1098501	NM_000132.4(F8):c.6678del (p.Ala2227fs)	F8 (A2227fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic

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