ClinVar for MedGen (Select 235598) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	Hereditary intrinsic factor deficiency +1 more	GUncertain significance
Select item 2139491	NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)	CBLIF (V370I)	Single nucleotide variant (missense variant)	not specified +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 +1 more	GConflicting classifications of pathogenicity
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 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 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)	Hereditary intrinsic factor deficiency +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
Select item 879624	NM_005142.3(CBLIF):c.1074-14A>G	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 878167	NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser)	CBLIF (P394S)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 878166	NM_005142.3(CBLIF):c.*87G>A	CBLIF	Single nucleotide variant (3 prime UTR variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 877195	NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro)	CBLIF (L9P)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency +1 more	GUncertain significance
Select item 830018	NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg)	CBLIF (G221R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GLikely pathogenic
Select item 800190	NM_005142.3(CBLIF):c.1074-3T>C	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 788331	NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile)	CBLIF (V380I)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GBenign/Likely benign
Select item 778042	NM_005142.3(CBLIF):c.1230C>T (p.Ile410=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 770216	NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile)	CBLIF (T20I)	Single nucleotide variant (missense variant)	CBLIF-related disorder +1 more	GBenign/Likely benign
Select item 762559	NM_005142.3(CBLIF):c.381T>G (p.Ala127=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 761936	NM_005142.3(CBLIF):c.138G>A (p.Ser46=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GConflicting classifications of pathogenicity
Select item 750113	NM_005142.3(CBLIF):c.1221C>T (p.His407=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 740840	NM_005142.3(CBLIF):c.750G>A (p.Thr250=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency	GBenign
Select item 719724	NM_005142.3(CBLIF):c.256+10C>T	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GConflicting classifications of pathogenicity
Select item 712937	NM_005142.3(CBLIF):c.872-8C>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency	GBenign
Select item 660502	NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)	CBLIF (L161R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 660115	NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg)	CBLIF (G277R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency +2 more	GConflicting classifications of pathogenicity
Select item 632162	NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter)	CBLIF (Q78*)	Single nucleotide variant (nonsense)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 618142	NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg)	CBLIF (G65R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 581451	NM_005142.3(CBLIF):c.1181del (p.Pro394fs)	CBLIF (P394fs)	Deletion (frameshift variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 574163	NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser)	CBLIF (F388S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 573386	NM_005142.3(CBLIF):c.1221C>G (p.His407Gln)	CBLIF (H407Q)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency +1 more	GUncertain significance
Select item 566919	NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	CBLIF (M61fs)	Deletion (frameshift variant)	Hereditary intrinsic factor deficiency +1 more	GPathogenic
Select item 439755	NM_005142.3(CBLIF):c.79+1G>A	CBLIF	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 305045	NM_005142.3(CBLIF):c.79+3G>A	CBLIF	Single nucleotide variant (intron variant)	Hereditary intrinsic factor deficiency +2 more	GConflicting classifications of pathogenicity
Select item 305044	NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)	CBLIF (Y52N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 305043	NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg)	CBLIF (K73R)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GUncertain significance
Select item 305042	NM_005142.3(CBLIF):c.246C>T (p.Ser82=)	CBLIF	Single nucleotide variant (synonymous variant)	Hereditary intrinsic factor deficiency +1 more	GBenign
Select item 305041	NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn)	CBLIF (D83N)	Single nucleotide variant (missense variant)	Hereditary intrinsic factor deficiency	GBenign

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