ClinVar for MedGen (Select 235598) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24317121.	NM_005142.3(CBLIF):c.370+1G>C GRCh37: Chr11:59610500 GRCh38: Chr11:59843027	CBLIF		Hereditary intrinsic factor deficiency	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 24253022.	NC_000011.9:g.(?_59603261)_(59604844_?)dup GRCh37: Chr11:59603261-59604844	CBLIF		Hereditary intrinsic factor deficiency	Likely pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 24221273.	NM_005142.3(CBLIF):c.79+10_79+12del GRCh37: Chr11:59612836-59612838 GRCh38: Chr11:59845363-59845365	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 22017654.	NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr) GRCh37: Chr11:59610540 GRCh38: Chr11:59843067	CBLIF	S111T	Hereditary intrinsic factor deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 22003225.	NM_005142.3(CBLIF):c.512-17C>A GRCh37: Chr11:59608814 GRCh38: Chr11:59841341	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 21997956.	NM_005142.3(CBLIF):c.997A>G (p.Ile333Val) GRCh37: Chr11:59603357 GRCh38: Chr11:59835884	CBLIF	I333V	Hereditary intrinsic factor deficiency	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 21991257.	NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr) GRCh37: Chr11:59603401 GRCh38: Chr11:59835928	CBLIF	I318T	Hereditary intrinsic factor deficiency	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 21959368.	NM_005142.3(CBLIF):c.257-13C>T GRCh37: Chr11:59610627 GRCh38: Chr11:59843154	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 21910199.	NM_005142.3(CBLIF):c.543C>A (p.Thr181=) GRCh37: Chr11:59608766 GRCh38: Chr11:59841293	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 217310010.	NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys) GRCh37: Chr11:59603300 GRCh38: Chr11:59835827	CBLIF	R352C	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 217289711.	NM_005142.3(CBLIF):c.510A>T (p.Val170=) GRCh37: Chr11:59609917 GRCh38: Chr11:59842444	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 217200312.	NM_005142.3(CBLIF):c.468C>T (p.Arg156=) GRCh37: Chr11:59609959 GRCh38: Chr11:59842486	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 215636513.	NM_005142.3(CBLIF):c.693+10T>G GRCh37: Chr11:59608606 GRCh38: Chr11:59841133	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jul 12, 2021)	criteria provided, single submitter
Select item 215246614.	NM_005142.3(CBLIF):c.438C>T (p.Asn146=) GRCh37: Chr11:59609989 GRCh38: Chr11:59842516	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215136315.	NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile) GRCh37: Chr11:59603353 GRCh38: Chr11:59835880	CBLIF	N334I	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 214728716.	NM_005142.3(CBLIF):c.1035T>C (p.Val345=) GRCh37: Chr11:59603319 GRCh38: Chr11:59835846	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 214637417.	NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe) GRCh37: Chr11:59612907 GRCh38: Chr11:59845434	CBLIF	Y7F	Hereditary intrinsic factor deficiency, Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213949118.	NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile) GRCh37: Chr11:59599235 GRCh38: Chr11:59831762	CBLIF	V370I	Hereditary intrinsic factor deficiency, Inborn genetic diseases	Uncertain significance (Aug 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 208570019.	NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr) GRCh37: Chr11:59599214 GRCh38: Chr11:59831741	CBLIF	A377T	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 208567520.	NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu) GRCh37: Chr11:59603303 GRCh38: Chr11:59835830	CBLIF	Q351E	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 208537321.	NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe) GRCh37: Chr11:59611388 GRCh38: Chr11:59843915	CBLIF	L74F	Hereditary intrinsic factor deficiency	Likely benign (Mar 28, 2021)	criteria provided, single submitter
Select item 208512222.	NM_005142.3(CBLIF):c.749C>T (p.Thr250Met) GRCh37: Chr11:59604769 GRCh38: Chr11:59837296	CBLIF	T250M	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 207372823.	NM_005142.3(CBLIF):c.693+8C>T GRCh37: Chr11:59608608 GRCh38: Chr11:59841135	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 205404724.	NM_005142.3(CBLIF):c.47C>T (p.Ala16Val) GRCh37: Chr11:59612880 GRCh38: Chr11:59845407	CBLIF	A16V	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 204813925.	NM_005142.3(CBLIF):c.1087A>G (p.Met363Val) GRCh37: Chr11:59599256 GRCh38: Chr11:59831783	CBLIF	M363V	Hereditary intrinsic factor deficiency	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 204455226.	NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln) GRCh37: Chr11:59610560 GRCh38: Chr11:59843087	CBLIF	R104Q	Hereditary intrinsic factor deficiency	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 204453627.	NM_005142.3(CBLIF):c.51G>A (p.Gly17=) GRCh37: Chr11:59612876 GRCh38: Chr11:59845403	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 204394528.	NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser) GRCh37: Chr11:59610054 GRCh38: Chr11:59842581	CBLIF	P125S	Hereditary intrinsic factor deficiency	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 204343129.	NM_005142.3(CBLIF):c.288C>A (p.Ile96=) GRCh37: Chr11:59610583 GRCh38: Chr11:59843110	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jul 25, 2021)	criteria provided, single submitter
Select item 204297030.	NM_005142.3(CBLIF):c.370+14G>A GRCh37: Chr11:59610487 GRCh38: Chr11:59843014	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 204098731.	NM_005142.3(CBLIF):c.371-19T>C GRCh37: Chr11:59610075 GRCh38: Chr11:59842602	CBLIF		Hereditary intrinsic factor deficiency	Benign (Oct 2, 2022)	criteria provided, single submitter
Select item 203066532.	NM_005142.3(CBLIF):c.1092A>G (p.Thr364=) GRCh37: Chr11:59599251 GRCh38: Chr11:59831778	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 198306433.	NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu) GRCh37: Chr11:59610537 GRCh38: Chr11:59843064	CBLIF	I112L	Hereditary intrinsic factor deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 198182034.	NM_005142.3(CBLIF):c.79+11T>C GRCh37: Chr11:59612837 GRCh38: Chr11:59845364	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 198041535.	NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg) GRCh37: Chr11:59612865 GRCh38: Chr11:59845392	CBLIF	Q21R	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 196971536.	NM_005142.3(CBLIF):c.370+83_426del GRCh37: Chr11:59610001-59610418 GRCh38: Chr11:59842528-59842945	CBLIF		Hereditary intrinsic factor deficiency	Likely pathogenic (Sep 13, 2021)	criteria provided, single submitter
Select item 196297637.	NM_005142.3(CBLIF):c.27G>A (p.Leu9=) GRCh37: Chr11:59612900 GRCh38: Chr11:59845427	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 196288938.	NM_005142.3(CBLIF):c.106G>A (p.Val36Ile) GRCh37: Chr11:59611502 GRCh38: Chr11:59844029	CBLIF	V36I	Hereditary intrinsic factor deficiency	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 195772039.	NM_005142.3(CBLIF):c.128T>C (p.Met43Thr) GRCh37: Chr11:59611480 GRCh38: Chr11:59844007	CBLIF	M43T	Hereditary intrinsic factor deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 195485940.	NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys) GRCh37: Chr11:59610600 GRCh38: Chr11:59843127	CBLIF	Q91K	Hereditary intrinsic factor deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 195165241.	NM_005142.3(CBLIF):c.78C>T (p.Cys26=) GRCh37: Chr11:59612849 GRCh38: Chr11:59845376	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 193894742.	NM_005142.3(CBLIF):c.371-4G>A GRCh37: Chr11:59610060 GRCh38: Chr11:59842587	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Nov 4, 2021)	criteria provided, single submitter
Select item 190392243.	NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr) GRCh37: Chr11:59603287 GRCh38: Chr11:59835814	CBLIF	M356T	Hereditary intrinsic factor deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 115513644.	NM_005142.3(CBLIF):c.418T>C (p.Leu140=) GRCh37: Chr11:59610009 GRCh38: Chr11:59842536	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 114643545.	NM_005142.3(CBLIF):c.964C>T (p.Leu322=) GRCh37: Chr11:59603390 GRCh38: Chr11:59835917	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jan 10, 2020)	criteria provided, single submitter
Select item 113656046.	NM_005142.3(CBLIF):c.1074-10dup GRCh37: Chr11:59599271-59599272 GRCh38: Chr11:59831798-59831799	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Apr 14, 2020)	criteria provided, single submitter
Select item 111944847.	NM_005142.3(CBLIF):c.192C>T (p.Ala64=) GRCh37: Chr11:59611416 GRCh38: Chr11:59843943	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 111680648.	NM_005142.3(CBLIF):c.1074-10T>C GRCh37: Chr11:59599279 GRCh38: Chr11:59831806	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 110482649.	NM_005142.3(CBLIF):c.1192+7G>A GRCh37: Chr11:59599144 GRCh38: Chr11:59831671	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 105983050.	NM_005142.3(CBLIF):c.1211C>G (p.Pro404Arg) GRCh37: Chr11:59597000 GRCh38: Chr11:59829527	CBLIF	P404R	Hereditary intrinsic factor deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 104050451.	NM_005142.3(CBLIF):c.754A>T (p.Met252Leu) GRCh37: Chr11:59604764 GRCh38: Chr11:59837291	CBLIF	M252L	Hereditary intrinsic factor deficiency	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 103854752.	NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) GRCh37: Chr11:59609981 GRCh38: Chr11:59842508	CBLIF	A149E	Hereditary intrinsic factor deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100876053.	NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val) GRCh37: Chr11:59599153 GRCh38: Chr11:59831680	CBLIF	E397V	Hereditary intrinsic factor deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100554554.	NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg) GRCh37: Chr11:59603290 GRCh38: Chr11:59835817	CBLIF	P355R	Hereditary intrinsic factor deficiency	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 97120555.	NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) GRCh37: Chr11:59599213 GRCh38: Chr11:59831740	CBLIF	A377V	Hereditary intrinsic factor deficiency	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95558756.	NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) GRCh37: Chr11:59603299 GRCh38: Chr11:59835826	CBLIF	R352H	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 94843957.	NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) GRCh37: Chr11:59604740 GRCh38: Chr11:59837267	CBLIF	G260R	Hereditary intrinsic factor deficiency	Uncertain significance (Jul 24, 2019)	criteria provided, single submitter
Select item 94569858.	NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) GRCh37: Chr11:59611526 GRCh38: Chr11:59844053	CBLIF	V28I	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 87999159.	NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) GRCh37: Chr11:59611369 GRCh38: Chr11:59843896	CBLIF	M80T	Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87962560.	NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) GRCh37: Chr11:59608735 GRCh38: Chr11:59841262	CBLIF	E192K	Hereditary intrinsic factor deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87962461.	NM_005142.3(CBLIF):c.1074-14A>G GRCh37: Chr11:59599283 GRCh38: Chr11:59831810	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87816762.	NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser) GRCh37: Chr11:59599163 GRCh38: Chr11:59831690	CBLIF	P394S	Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87816663.	NM_005142.3(CBLIF):c.*87G>A GRCh37: Chr11:59596870 GRCh38: Chr11:59829397	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87719564.	NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) GRCh37: Chr11:59612901 GRCh38: Chr11:59845428	CBLIF	L9P	Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 83001865.	NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) GRCh37: Chr11:59608648 GRCh38: Chr11:59841175	CBLIF	G221R	Hereditary intrinsic factor deficiency	Likely pathogenic (Oct 8, 2019)	no assertion criteria provided
Select item 80019066.	NM_005142.3(CBLIF):c.1074-3T>C GRCh37: Chr11:59599272 GRCh38: Chr11:59831799	CBLIF		Hereditary intrinsic factor deficiency	Conflicting interpretations of pathogenicity (Sep 16, 2020)	criteria provided, conflicting interpretations
Select item 78833167.	NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) GRCh37: Chr11:59599205 GRCh38: Chr11:59831732	CBLIF	V380I	Hereditary intrinsic factor deficiency	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77804268.	NM_005142.3(CBLIF):c.1230C>T (p.Ile410=) GRCh37: Chr11:59596981 GRCh38: Chr11:59829508	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Sep 10, 2018)	criteria provided, single submitter
Select item 77021669.	NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) GRCh37: Chr11:59612868 GRCh38: Chr11:59845395	CBLIF	T20I	Hereditary intrinsic factor deficiency	Benign (Oct 18, 2022)	criteria provided, single submitter
Select item 76255970.	NM_005142.3(CBLIF):c.381T>G (p.Ala127=) GRCh37: Chr11:59610046 GRCh38: Chr11:59842573	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 76193671.	NM_005142.3(CBLIF):c.138G>A (p.Ser46=) GRCh37: Chr11:59611470 GRCh38: Chr11:59843997	CBLIF		Hereditary intrinsic factor deficiency	Conflicting interpretations of pathogenicity (Jun 30, 2018)	criteria provided, conflicting interpretations
Select item 75011372.	NM_005142.3(CBLIF):c.1221C>T (p.His407=) GRCh37: Chr11:59596990 GRCh38: Chr11:59829517	CBLIF		Hereditary intrinsic factor deficiency	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 74084073.	NM_005142.3(CBLIF):c.750G>A (p.Thr250=) GRCh37: Chr11:59604768 GRCh38: Chr11:59837295	CBLIF		Hereditary intrinsic factor deficiency	Benign (Nov 12, 2020)	criteria provided, single submitter
Select item 71972474.	NM_005142.3(CBLIF):c.256+10C>T GRCh37: Chr11:59611342 GRCh38: Chr11:59843869	CBLIF		not provided, Hereditary intrinsic factor deficiency	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 71293775.	NM_005142.3(CBLIF):c.872-8C>A GRCh37: Chr11:59603490 GRCh38: Chr11:59836017	CBLIF		Hereditary intrinsic factor deficiency	Benign (Oct 19, 2020)	criteria provided, single submitter
Select item 66050276.	NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) GRCh37: Chr11:59609945 GRCh38: Chr11:59842472	CBLIF	L161R	Hereditary intrinsic factor deficiency	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 66011577.	NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) GRCh37: Chr11:59604689 GRCh38: Chr11:59837216	CBLIF	G277R	Hereditary intrinsic factor deficiency, not provided	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 63216278.	NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) GRCh37: Chr11:59611376 GRCh38: Chr11:59843903	CBLIF	Q78*	Hereditary intrinsic factor deficiency	Uncertain significance (Oct 29, 2018)	criteria provided, single submitter
Select item 61814279.	NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) GRCh37: Chr11:59611415 GRCh38: Chr11:59843942	CBLIF	G65R	Hereditary intrinsic factor deficiency, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58145180.	NM_005142.3(CBLIF):c.1181del (p.Pro394fs) GRCh37: Chr11:59599162 GRCh38: Chr11:59831689	CBLIF	P394fs	Hereditary intrinsic factor deficiency	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 57416381.	NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) GRCh37: Chr11:59599180 GRCh38: Chr11:59831707	CBLIF	F388S	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 57338682.	NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) GRCh37: Chr11:59596990 GRCh38: Chr11:59829517	CBLIF	H407Q	Hereditary intrinsic factor deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 56691983.	NM_005142.3(CBLIF):c.183_186del (p.Met61fs) GRCh37: Chr11:59611422-59611425 GRCh38: Chr11:59843949-59843952	CBLIF	M61fs	not provided, Hereditary intrinsic factor deficiency	Pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43975584.	NM_005142.3(CBLIF):c.79+1G>A GRCh37: Chr11:59612847 GRCh38: Chr11:59845374	CBLIF		not provided, See cases, Hereditary intrinsic factor deficiency	Pathogenic (Feb 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 30504585.	NM_005142.3(CBLIF):c.79+3G>A GRCh37: Chr11:59612845 GRCh38: Chr11:59845372	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30504486.	NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) GRCh37: Chr11:59611454 GRCh38: Chr11:59843981	CBLIF	Y52N	Hereditary intrinsic factor deficiency, not provided	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 30504387.	NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) GRCh37: Chr11:59611390 GRCh38: Chr11:59843917	CBLIF	K73R	Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30504288.	NM_005142.3(CBLIF):c.246C>T (p.Ser82=) GRCh37: Chr11:59611362 GRCh38: Chr11:59843889	CBLIF		not provided, Hereditary intrinsic factor deficiency	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30504189.	NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) GRCh37: Chr11:59611361 GRCh38: Chr11:59843888	CBLIF	D83N	Hereditary intrinsic factor deficiency	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30504090.	NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) GRCh37: Chr11:59610581 GRCh38: Chr11:59843108	CBLIF	M97T	not provided, Hereditary intrinsic factor deficiency	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 30503991.	NM_005142.3(CBLIF):c.371-15C>T GRCh37: Chr11:59610071 GRCh38: Chr11:59842598	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30503892.	NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) GRCh37: Chr11:59610048 GRCh38: Chr11:59842575	CBLIF	A127T	Hereditary intrinsic factor deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30503793.	NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) GRCh37: Chr11:59609972 GRCh38: Chr11:59842499	CBLIF	P152L	Hereditary intrinsic factor deficiency	Conflicting interpretations of pathogenicity (Jun 25, 2022)	criteria provided, conflicting interpretations
Select item 30503694.	NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) GRCh37: Chr11:59608785 GRCh38: Chr11:59841312	CBLIF	M175T	Hereditary intrinsic factor deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30503595.	NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) GRCh37: Chr11:59604754 GRCh38: Chr11:59837281	CBLIF	N255S	not provided, Hereditary intrinsic factor deficiency	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30503496.	NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) GRCh37: Chr11:59604684 GRCh38: Chr11:59837211	CBLIF	K278N	Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30503397.	NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) GRCh37: Chr11:59604664 GRCh38: Chr11:59837191	CBLIF	Q285R	Hereditary intrinsic factor deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30503298.	NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) GRCh37: Chr11:59603444 GRCh38: Chr11:59835971	CBLIF	P304S	Hereditary intrinsic factor deficiency	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 30503199.	NM_005142.3(CBLIF):c.990C>T (p.Asn330=) GRCh37: Chr11:59603364 GRCh38: Chr11:59835891	CBLIF		not provided, Hereditary intrinsic factor deficiency	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 305030100.	NM_005142.3(CBLIF):c.1107C>T (p.Val369=) GRCh37: Chr11:59599236 GRCh38: Chr11:59831763	CBLIF		Hereditary intrinsic factor deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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