CN068943[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298890	NM_004132.4(HABP2):c.-70delT	HABP2	Deletion (intron variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298891	NM_004132.4(HABP2):c.-71T>C	HABP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 298892	NM_004132.4(HABP2):c.-70T>C	HABP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 298893	NM_004132.5(HABP2):c.-65C>G	HABP2	Single nucleotide variant (intron variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879380	NM_004132.5(HABP2):c.-58G>C	HABP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 298894	NM_004132.5(HABP2):c.-3A>G	HABP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 879381	NM_004132.5(HABP2):c.46C>G (p.Leu16Val)	HABP2 (L16V)	Single nucleotide variant (missense variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298895	NM_004132.5(HABP2):c.63C>T (p.Ala21=)	HABP2	Single nucleotide variant (synonymous variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298896	NM_004132.5(HABP2):c.95G>T (p.Ser32Ile)	HABP2 (S32I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 879766	NM_004132.5(HABP2):c.148A>T (p.Asn50Tyr)	HABP2 (N24Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 298897	NM_004132.5(HABP2):c.158A>G (p.Glu53Gly)	HABP2 (E53G +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 716806	NM_004132.5(HABP2):c.177T>A (p.Leu59=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298898	NM_004132.5(HABP2):c.183C>T (p.His61=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia +2 more	GBenign
Select item 298899	NM_004132.5(HABP2):c.207C>T (p.Tyr69=)	HABP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 709833	NM_004132.5(HABP2):c.252C>T (p.His84=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 298900	NM_004132.5(HABP2):c.267C>T (p.Leu89=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877806	NM_004132.5(HABP2):c.268G>A (p.Val90Ile)	HABP2 (V90I +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
Select item 877807	NM_004132.5(HABP2):c.332-10T>G	HABP2, LOC129390229	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877808	NM_004132.5(HABP2):c.342G>A (p.Thr114=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877809	NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)	HABP2 (R96W +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +3 more	GBenign/Likely benign
Select item 298901	NM_004132.5(HABP2):c.396C>T (p.Pro132=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GConflicting classifications of pathogenicity
Select item 298902	NM_004132.5(HABP2):c.402C>T (p.Tyr134=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 716416	NM_004132.5(HABP2):c.405C>A (p.Arg135=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 877810	NM_004132.5(HABP2):c.448+14G>A	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 877972	NM_004132.5(HABP2):c.466C>T (p.Pro156Ser)	HABP2 (P156S +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298903	NM_004132.5(HABP2):c.497C>T (p.Ser166Phe)	HABP2 (S166F +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 877973	NM_004132.5(HABP2):c.516C>G (p.Ser172=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877974	NM_004132.5(HABP2):c.538G>A (p.Asp180Asn)	HABP2 (D154N +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298904	NM_004132.5(HABP2):c.568+3A>G	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298905	NM_004132.5(HABP2):c.568+9C>T	HABP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 877975	NM_004132.5(HABP2):c.621T>G (p.Asn207Lys)	HABP2 (N207K +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877976	NM_004132.5(HABP2):c.633C>T (p.Asn211=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 879434	NM_004132.5(HABP2):c.698A>G (p.Glu233Gly)	HABP2 (E207G +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879435	NM_004132.5(HABP2):c.740+7T>A	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
Select item 298906	NM_004132.5(HABP2):c.752C>T (p.Ala251Val)	HABP2 (A251V +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879436	NM_004132.5(HABP2):c.753G>A (p.Ala251=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GConflicting classifications of pathogenicity
Select item 298907	NM_004132.5(HABP2):c.807A>C (p.Glu269Asp)	HABP2 (E269D +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298908	NM_004132.5(HABP2):c.830C>T (p.Ser277Leu)	HABP2 (S277L +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign/Likely benign
Select item 879437	NM_004132.5(HABP2):c.866C>G (p.Thr289Ser)	HABP2 (T263S +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879438	NM_004132.5(HABP2):c.899C>T (p.Ser300Phe)	HABP2 (S274F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 298909	NM_004132.5(HABP2):c.905G>A (p.Gly302Glu)	HABP2 (G302E +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879806	NM_004132.5(HABP2):c.906A>G (p.Gly302=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298910	NM_004132.5(HABP2):c.930G>A (p.Lys310=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879807	NM_004132.5(HABP2):c.933C>G (p.Ile311Met)	HABP2 (I285M +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298911	NM_004132.5(HABP2):c.947G>A (p.Gly316Glu)	HABP2 (G316E +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +3 more	GBenign/Likely benign
Select item 879808	NM_004132.5(HABP2):c.951C>A (p.Gly317=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879809	NM_004132.5(HABP2):c.953T>C (p.Phe318Ser)	HABP2 (F318S +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298912	NM_004132.5(HABP2):c.957G>A (p.Lys319=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 879810	NM_004132.5(HABP2):c.968G>A (p.Gly323Asp)	HABP2 (G297D +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879811	NM_004132.5(HABP2):c.1006C>T (p.Pro336Ser)	HABP2 (P310S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 298913	NM_004132.5(HABP2):c.1030G>A (p.Gly344Ser)	HABP2 (G344S +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298914	NM_004132.5(HABP2):c.1048G>A (p.Ala350Thr)	HABP2 (A350T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 298915	NM_004132.5(HABP2):c.1050G>A (p.Ala350=)	HABP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 877864	NM_004132.5(HABP2):c.1092C>T (p.Thr364=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298916	NM_004132.5(HABP2):c.1095-6T>C	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
Select item 877865	NM_004132.5(HABP2):c.1107A>G (p.Arg369=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298917	NM_004132.5(HABP2):c.1156C>T (p.His386Tyr)	HABP2 (H386Y +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 632126	NM_004132.5(HABP2):c.1159_1162dup (p.Gln388fs)	HABP2 (Q362fs +1 more)	Duplication (frameshift variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298918	NM_004132.5(HABP2):c.1177G>C (p.Glu393Gln)	HABP2 (E393Q +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GLikely benign
Select item 877866	NM_004132.5(HABP2):c.1238-15T>G	HABP2	Single nucleotide variant (intron variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 878026	NM_004132.5(HABP2):c.1238-2A>G	HABP2	Single nucleotide variant (splice acceptor variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298919	NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala)	HABP2 (G460A +1 more)	Single nucleotide variant (missense variant)	HABP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 878027	NM_004132.5(HABP2):c.1384C>T (p.Arg462Cys)	HABP2 (R436C +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298920	NM_004132.5(HABP2):c.1542C>T (p.Thr514=)	HABP2	Single nucleotide variant (synonymous variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298921	NM_004132.5(HABP2):c.1555G>A (p.Gly519Ser)	HABP2 (G519S +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298922	NM_004132.5(HABP2):c.1561T>C (p.Tyr521His)	HABP2 (Y521H +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 5974	NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)	HABP2 (G534E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 878028	NM_004132.5(HABP2):c.1637T>C (p.Phe546Ser)	HABP2 (F546S +1 more)	Single nucleotide variant (missense variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879490	NM_004132.5(HABP2):c.*29C>T	HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879491	NM_004132.5(HABP2):c.*51G>A	HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879492	NM_004132.5(HABP2):c.*155T>A	HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298923	NM_004132.5(HABP2):c.*235C>T	HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298924	NM_004132.5(HABP2):c.*236A>C	HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298925	NM_004132.5(HABP2):c.*258C>T	HABP2	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879493	NM_198060.4(NRAP):c.*257G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879494	NM_198060.4(NRAP):c.*246T>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298926	NM_198060.4(NRAP):c.*241T>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298927	NM_198060.4(NRAP):c.*188G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298928	NM_198060.4(NRAP):c.*139G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298929	NM_198060.4(NRAP):c.*79G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 879852	NM_198060.4(NRAP):c.*41T>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298930	NM_198060.4(NRAP):c.*7del	HABP2, NRAP	Deletion (3 prime UTR variant)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign/Likely benign
Select item 298931	NM_198060.4(NRAP):c.5170AAG[2] (p.Lys1726del)	HABP2, NRAP (K1690del +3 more)	Microsatellite (3 prime UTR variant +1 more)	NRAP-related condition +2 more	GBenign/Likely benign
Select item 298932	NM_198060.4(NRAP):c.5155A>C (p.Ile1719Leu)	HABP2, NRAP (I1683L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298933	NM_198060.4(NRAP):c.5117A>C (p.Asp1706Ala)	HABP2, NRAP (D1706A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298934	NM_198060.4(NRAP):c.5089-55G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298935	NM_198060.4(NRAP):c.5089-78C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia +1 more	GBenign
Select item 877911	NM_198060.4(NRAP):c.5089-92C>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877912	NM_198060.4(NRAP):c.5089-103G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 877913	NM_198060.4(NRAP):c.5089-112G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298936	NM_198060.4(NRAP):c.5089-113G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298937	NM_198060.4(NRAP):c.5089-149T>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298938	NM_198060.4(NRAP):c.5089-159A>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 298939	NM_198060.4(NRAP):c.5089-209A>C	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298940	NM_198060.4(NRAP):c.5088+258A>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298941	NM_198060.4(NRAP):c.5088+246G>A	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298942	NM_198060.4(NRAP):c.5088+245C>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298943	NM_198060.4(NRAP):c.5088+209A>G	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance
Select item 298944	NM_198060.4(NRAP):c.5088+182G>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GLikely benign
Select item 878080	NM_198060.4(NRAP):c.5088+173G>T	HABP2, NRAP	Single nucleotide variant (3 prime UTR variant +1 more)	Factor VII Marburg I Variant Thrombophilia	GUncertain significance

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