C0008533[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2078226	NC_000023.11:g.139529943A>G	F9	Single nucleotide variant	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 2078227	NC_000023.11:g.139530038T>C	F9	Single nucleotide variant	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 658437	NC_000023.11:g.(?_139530701)_(139563439_?)del	F9	Deletion	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 641767	NM_000133.4(F9):c.-35G>A	F9	Single nucleotide variant	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 847127	NC_000023.11:g.139530731A>G	F9	Single nucleotide variant	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 1490905	NM_000133.4(F9):c.-19C>G	F9	Single nucleotide variant (5 prime UTR variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 10646	NM_000133.4(F9):c.-17A>G	F9	Single nucleotide variant (5 prime UTR variant)	Hereditary factor IX deficiency disease +2 more	GLikely pathogenic
Select item 537740	NC_000023.11:g.(?_139530759)_(139562076_?)del	F9	Deletion	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2929110	NM_000133.4(F9):c.7C>A (p.Arg3Ser)	F9 (R3S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 765903	NM_000133.4(F9):c.7C>T (p.Arg3Cys)	F9 (R3C)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GBenign
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 1597084	NM_000133.4(F9):c.9C>G (p.Arg3=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 799804	NM_000133.4(F9):c.9C>T (p.Arg3=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2046845	NM_000133.4(F9):c.15C>T (p.Asn5=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 367997	NM_000133.4(F9):c.19A>T (p.Ile7Phe)	F9 (I7F)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GBenignFDA Recognized database
Select item 2953975	NM_000133.4(F9):c.27A>C (p.Ala9=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2125832	NM_000133.4(F9):c.36A>G (p.Pro12=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 934532	NM_000133.4(F9):c.44T>A (p.Ile15Asn)	F9 (I15N)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GUncertain significance
Select item 1164738	NM_000133.4(F9):c.48C>A (p.Thr16=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GBenign
Select item 697610	NM_000133.4(F9):c.51C>T (p.Ile17=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GBenignFDA Recognized database
Select item 990711	NM_000133.4(F9):c.54C>T (p.Cys18=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 701352	NM_000133.4(F9):c.60A>G (p.Leu20=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GBenignFDA Recognized database
Select item 10657	NM_000133.4(F9):c.82T>C (p.Cys28Arg)	F9 (C28R)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2138734	NM_000133.4(F9):c.86C>T (p.Thr29Ile)	F9 (T29I)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
Select item 651569	NM_000133.4(F9):c.88G>A (p.Val30Ile)	F9 (V30I)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease	GLikely pathogenicFDA Recognized database
Select item 1413399	NM_000133.4(F9):c.88+2T>C	F9	Single nucleotide variant (splice donor variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 2922334	NM_000133.4(F9):c.88+8T>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 1640487	NM_000133.4(F9):c.88+10_88+11del	F9	Deletion (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 728838	NM_000133.4(F9):c.88+10C>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2936413	NM_000133.4(F9):c.88+16T>A	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2927400	NM_000133.4(F9):c.88+20A>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2926884	NM_000133.4(F9):c.89-20A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2926606	NM_000133.4(F9):c.89-19T>A	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2952977	NM_000133.4(F9):c.89-14C>A	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2945052	NM_000133.4(F9):c.89-10del	F9	Deletion (intron variant)	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 1912210	NM_000133.4(F9):c.89-9A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 794913	NM_000133.4(F9):c.89-7A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930840	NM_000133.4(F9):c.102T>C (p.His34=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1078704	NM_000133.4(F9):c.106A>G (p.Asn36Asp)	F9 (N36D)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 367998	NM_000133.4(F9):c.108C>T (p.Asn36=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease	GBenignFDA Recognized database
Select item 804089	NM_000133.4(F9):c.109G>A (p.Ala37Thr)	F9 (A37T)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GBenign; association
Select item 700669	NM_000133.4(F9):c.114C>T (p.Asn38=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GBenign
Select item 1160362	NM_000133.4(F9):c.116A>G (p.Lys39Arg)	F9 (K39R)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 834544	NM_000133.4(F9):c.122T>G (p.Leu41Arg)	F9 (L41R)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
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 810864	NM_000133.4(F9):c.128G>A (p.Arg43Gln)	F9 (R43Q)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +3 more	GPathogenic
Select item 1114382	NM_000133.4(F9):c.129G>A (p.Arg43=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1085717	NM_000133.4(F9):c.130C>T (p.Pro44Ser)	F9 (P44S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2170264	NM_000133.4(F9):c.135G>A (p.Lys45=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1623620	NM_000133.4(F9):c.141T>C (p.Tyr47=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2925690	NM_000133.4(F9):c.142A>G (p.Asn48Asp)	F9 (N48D)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 454495	NM_000133.4(F9):c.148G>A (p.Gly50Ser)	F9 (G50S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 1524877	NM_000133.4(F9):c.149G>C (p.Gly50Ala)	F9 (G50A)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely pathogenic
Select item 1120821	NM_000133.4(F9):c.154T>C (p.Leu52=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1509808	NM_000133.4(F9):c.163T>C (p.Phe55Leu)	F9 (F55L)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 1069182	NM_000133.4(F9):c.163T>A (p.Phe55Ile)	F9 (F55I)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 2188285	NM_000133.4(F9):c.177C>T (p.Asn59=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1513343	NM_000133.4(F9):c.182A>G (p.Glu61Gly)	F9 (E61G)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 1076388	NM_000133.4(F9):c.191G>A (p.Cys64Tyr)	F9 (C64Y)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 1095482	NM_000133.4(F9):c.192T>C (p.Cys64=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2418772	NM_000133.4(F9):c.194T>C (p.Met65Thr)	F9 (M65T)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 1927628	NM_000133.4(F9):c.201A>G (p.Glu67=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
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 2926916	NM_000133.4(F9):c.231T>G (p.Val77=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2925691	NM_000133.4(F9):c.236A>T (p.Glu79Val)	F9 (E79V)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely pathogenic
Select item 1071223	NM_000133.4(F9):c.237_247del (p.Thr81fs)	F9 (T81fs)	Deletion (frameshift variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 695975	NM_000133.4(F9):c.250A>G (p.Thr84Ala)	F9 (T84A)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2925692	NM_000133.4(F9):c.251C>T (p.Thr84Ile)	F9 (T84I)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +1 more	GLikely pathogenic
Select item 2939953	NM_000133.4(F9):c.252+12C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2932713	NM_000133.4(F9):c.252+14C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2928175	NM_000133.4(F9):c.252+15A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2935376	NM_000133.4(F9):c.252+16T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2939063	NM_000133.4(F9):c.252+18A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2944252	NM_000133.4(F9):c.252+20A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930535	NM_000133.4(F9):c.253-12T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2946955	NM_000133.4(F9):c.253-8C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2169695	NM_000133.4(F9):c.253-3T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GUncertain significance
Select item 574429	NM_000133.4(F9):c.253-1G>C	F9	Single nucleotide variant (splice acceptor variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 1554744	NM_000133.4(F9):c.267G>A (p.Lys89=)	F9	Single nucleotide variant (synonymous variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1153993	NM_000133.4(F9):c.273T>C (p.Tyr91=)	F9	Single nucleotide variant (synonymous variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2021648	NM_000133.4(F9):c.277+7A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2927020	NM_000133.4(F9):c.277+14T>C	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2930947	NM_000133.4(F9):c.277+19C>T	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1170617	NM_000133.4(F9):c.278-27A>G	F9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 2951313	NM_000133.4(F9):c.278-13A>C	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 2138735	NM_000133.4(F9):c.278-12C>T	F9	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 92225	NM_000133.4(F9):c.278-3A>G	F9	Single nucleotide variant (intron variant)	Hereditary factor IX deficiency disease +1 more	GPathogenic
Select item 454496	NM_000133.4(F9):c.280G>A (p.Gly94Arg)	F9 (G94R)	Single nucleotide variant (missense variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely pathogenic
Select item 2169796	NM_000133.4(F9):c.294G>A (p.Glu98=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 10578	NM_000133.4(F9):c.301C>G (p.Pro101Ala)	F9 (P101A)	Single nucleotide variant (missense variant +1 more)	Hereditary factor IX deficiency disease +2 more	GPathogenic
Select item 1067340	NM_000133.4(F9):c.302C>A (p.Pro101Gln)	F9 (P101Q)	Single nucleotide variant (missense variant +1 more)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely pathogenic
Select item 2938492	NM_000133.4(F9):c.303A>G (p.Pro101=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 1556850	NM_000133.4(F9):c.315C>T (p.Gly105=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign
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 2930204	NM_000133.4(F9):c.324C>T (p.Cys108=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 764284	NM_000133.4(F9):c.333C>T (p.Asp111=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GBenign
Select item 1542117	NM_000133.4(F9):c.336T>C (p.Ile112=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign
Select item 2952211	NM_000133.4(F9):c.339T>C (p.Asn113=)	F9	Single nucleotide variant (synonymous variant +1 more)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GLikely benign
Select item 1096868	NM_000133.4(F9):c.342C>T (p.Ser114=)	F9	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor IX deficiency disease +1 more	GLikely benign

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