ClinVar for Gene (Select 2694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137997	NM_005142.3(CBLIF):c.735C>A (p.Asn245Lys)	CBLIF (N245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137996	NM_005142.3(CBLIF):c.632G>A (p.Ser211Asn)	CBLIF (S211N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137995	NM_005142.3(CBLIF):c.615T>A (p.Asp205Glu)	CBLIF (D205E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137994	NM_005142.3(CBLIF):c.604G>T (p.Val202Leu)	CBLIF (V202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137993	NM_005142.3(CBLIF):c.580G>A (p.Gly194Ser)	CBLIF (G194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137992	NM_005142.3(CBLIF):c.568G>C (p.Gly190Arg)	CBLIF (G190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137991	NM_005142.3(CBLIF):c.374C>G (p.Pro125Arg)	CBLIF (P125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137990	NM_005142.3(CBLIF):c.266T>C (p.Ile89Thr)	CBLIF (I89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137989	NM_005142.3(CBLIF):c.1108G>C (p.Val370Leu)	CBLIF (V370L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137988	NM_005142.3(CBLIF):c.1058A>G (p.Lys353Arg)	CBLIF (K353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137987	NM_005142.3(CBLIF):c.104T>C (p.Leu35Ser)	CBLIF (L35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137986	NM_005142.3(CBLIF):c.1018G>T (p.Gly340Trp)	CBLIF (G340W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3036637	NM_005142.3(CBLIF):c.930T>G (p.Ser310=)	CBLIF	Single nucleotide variant (synonymous variant)	CBLIF-related condition	GLikely benign
Select item 3034563	NM_005142.3(CBLIF):c.276C>T (p.Leu92=)	CBLIF	Single nucleotide variant (synonymous variant)	CBLIF-related condition	GLikely benign
Select item 3023588	NM_005142.3(CBLIF):c.370+10G>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 3017739	NM_005142.3(CBLIF):c.370+13T>C	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2963502	NM_005142.3(CBLIF):c.138G>T (p.Ser46=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2906186	NM_005142.3(CBLIF):c.693+9G>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2906008	NM_005142.3(CBLIF):c.256+20C>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2903417	NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)	CBLIF (R104*)	Single nucleotide variant (nonsense)	Hereditary intrinsic factor deficiency	GPathogenic
Select item 2873302	NM_005142.3(CBLIF):c.1002T>C (p.Asn334=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2868353	NM_005142.3(CBLIF):c.871+14C>G	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2788518	NM_005142.3(CBLIF):c.370+20G>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2745722	NM_005142.3(CBLIF):c.256+18C>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2738194	NM_005142.3(CBLIF):c.834G>A (p.Lys278=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2683151	NM_005142.3(CBLIF):c.1032TGT[1] (p.Val346del)	CBLIF (V346del)	Microsatellite (inframe deletion)	not provided	GUncertain significance
Select item 2538034	NM_005142.3(CBLIF):c.991G>A (p.Glu331Lys)	CBLIF (E331K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2431712	NM_005142.3(CBLIF):c.370+1G>C	CBLIF	Single nucleotide variant (splice donor variant)	Hereditary intrinsic factor deficiency	GLikely pathogenic
Select item 2425302	NC_000011.9:g.(?_59603261)_(59604844_?)dup	CBLIF	Duplication	Hereditary intrinsic factor deficiency	GLikely pathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2422127	NM_005142.3(CBLIF):c.79+10_79+12del	CBLIF	Microsatellite (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2201765	NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr)	CBLIF (S111T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2200322	NM_005142.3(CBLIF):c.512-17C>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2199795	NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)	CBLIF (I333V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2199125	NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)	CBLIF (I318T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2195936	NM_005142.3(CBLIF):c.257-13C>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2191019	NM_005142.3(CBLIF):c.543C>A (p.Thr181=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2173100	NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys)	CBLIF (R352C)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2172897	NM_005142.3(CBLIF):c.510A>T (p.Val170=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2172003	NM_005142.3(CBLIF):c.468C>T (p.Arg156=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2156365	NM_005142.3(CBLIF):c.693+10T>G	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2152466	NM_005142.3(CBLIF):c.438C>T (p.Asn146=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2151363	NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)	CBLIF (N334I)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2147287	NM_005142.3(CBLIF):c.1035T>C (p.Val345=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2146374	NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe)	CBLIF (Y7F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2139491	NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)	CBLIF (V370I)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency +1 more	GUncertain significance
Select item 2085700	NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)	CBLIF (A377T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2085675	NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu)	CBLIF (Q351E)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2085373	NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe)	CBLIF (L74F)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2085122	NM_005142.3(CBLIF):c.749C>T (p.Thr250Met)	CBLIF (T250M)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2073728	NM_005142.3(CBLIF):c.693+8C>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2054047	NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)	CBLIF (A16V)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2048139	NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)	CBLIF (M363V)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency +1 more	GUncertain significance
Select item 2044552	NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln)	CBLIF (R104Q)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2044536	NM_005142.3(CBLIF):c.51G>A (p.Gly17=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2043945	NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)	CBLIF (P125S)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 2043431	NM_005142.3(CBLIF):c.288C>A (p.Ile96=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2042970	NM_005142.3(CBLIF):c.370+14G>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 2040987	NM_005142.3(CBLIF):c.371-19T>C	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GBenign
Select item 2030665	NM_005142.3(CBLIF):c.1092A>G (p.Thr364=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1983064	NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu)	CBLIF (I112L)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1981820	NM_005142.3(CBLIF):c.79+11T>C	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1980415	NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg)	CBLIF (Q21R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1969715	NM_005142.3(CBLIF):c.370+83_426del	CBLIF	Deletion (splice acceptor variant)	Hereditary intrinsic factor deficiency	GLikely pathogenic
Select item 1962976	NM_005142.3(CBLIF):c.27G>A (p.Leu9=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1962889	NM_005142.3(CBLIF):c.106G>A (p.Val36Ile)	CBLIF (V36I)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1957720	NM_005142.3(CBLIF):c.128T>C (p.Met43Thr)	CBLIF (M43T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1954859	NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)	CBLIF (Q91K)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1951652	NM_005142.3(CBLIF):c.78C>T (p.Cys26=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1938947	NM_005142.3(CBLIF):c.371-4G>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1903922	NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr)	CBLIF (M356T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1273951	NM_005142.3(CBLIF):c.370+39T>C	CBLIF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273950	NM_005142.3(CBLIF):c.1192+179TA[9]	CBLIF	Microsatellite (intron variant)	not provided	GBenign
Select item 1273499	NM_005142.3(CBLIF):c.80-129G>A	CBLIF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266346	NM_005142.3(CBLIF):c.79+191T>C	CBLIF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253162	NM_005142.3(CBLIF):c.1192+179TA[11]	CBLIF	Microsatellite (intron variant)	not provided	GBenign
Select item 1239869	NM_005142.3(CBLIF):c.80-33T>C	CBLIF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174321	NM_005142.3(CBLIF):c.693+236T>C	CBLIF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1155136	NM_005142.3(CBLIF):c.418T>C (p.Leu140=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1146435	NM_005142.3(CBLIF):c.964C>T (p.Leu322=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1136560	NM_005142.3(CBLIF):c.1074-10dup	CBLIF	Duplication (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1119448	NM_005142.3(CBLIF):c.192C>T (p.Ala64=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1116806	NM_005142.3(CBLIF):c.1074-10T>C	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1104826	NM_005142.3(CBLIF):c.1192+7G>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 1059830	NM_005142.3(CBLIF):c.1211C>G (p.Pro404Arg)	CBLIF (P404R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1040504	NM_005142.3(CBLIF):c.754A>T (p.Met252Leu)	CBLIF (M252L)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1038547	NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu)	CBLIF (A149E)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1008760	NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val)	CBLIF (E397V)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 1005545	NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg)	CBLIF (P355R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 971205	NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val)	CBLIF (A377V)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency +1 more	GUncertain significance
Select item 955587	NM_005142.3(CBLIF):c.1055G>A (p.Arg352His)	CBLIF (R352H)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 948439	NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg)	CBLIF (G260R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 945698	NM_005142.3(CBLIF):c.82G>A (p.Val28Ile)	CBLIF (V28I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 879991	NM_005142.3(CBLIF):c.239T>C (p.Met80Thr)	CBLIF (M80T)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 879625	NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys)	CBLIF (E192K)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance

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