ClinVar for MedGen (Select 1643786) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24412221.	NM_001114753.3(ENG):c.1686G>C (p.Gln562His) GRCh37: Chr9:130580399 GRCh38: Chr9:127818120	ENG, LOC102723566	Q380H, Q562H	Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 24285562.	NM_001114753.3(ENG):c.579_580del (p.Leu194fs) GRCh37: Chr9:130588083-130588084 GRCh38: Chr9:127825804-127825805	ENG	L12fs, L194fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 18054083.	NM_000021.4(PSEN1):c.308T>A (p.Val103Asp) GRCh37: Chr14:73637725 GRCh38: Chr14:73171017	PSEN1	V103D, V99D	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 18032534.	NM_001114753.3(ENG):c.111del (p.Glu38fs) GRCh37: Chr9:130605481 GRCh38: Chr9:127843202	ENG	E38fs	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 17332425.	NM_001114753.3(ENG):c.361-2A>T GRCh37: Chr9:130588953 GRCh38: Chr9:127826674	ENG		Telangiectasia, hereditary hemorrhagic, type 1, Cardiovascular phenotype	Pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17035686.	GRCh37/hg19 9q34.11(chr9:130581787-130582459) GRCh37: Chr9:130581787-130582459	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic	no assertion criteria provided
Select item 17015817.	NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) GRCh37: Chr9:130586595-130586596 GRCh38: Chr9:127824316-127824317	ENG	K192S, K374S	Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 1, not provided, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 16991968.	NM_001114753.3(ENG):c.974T>G (p.Leu325Arg) GRCh37: Chr9:130587096 GRCh38: Chr9:127824817	ENG	L143R, L325R	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 16799529.	NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter) GRCh37: Chr9:130586678 GRCh38: Chr9:127824399	ENG	K165, K347	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 167948510.	NM_001114753.3(ENG):c.1742-28C>T GRCh37: Chr9:130578360 GRCh38: Chr9:127816081	ENG, LOC102723566		Telangiectasia, hereditary hemorrhagic, type 1	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 167862511.	NM_001114753.3(ENG):c.1614_1615del (p.Val539fs) GRCh37: Chr9:130580470-130580471 GRCh38: Chr9:127818191-127818192	ENG, LOC102723566	V357fs, V539fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Feb 7, 2020)	criteria provided, single submitter
Select item 167857112.	NM_001114753.3(ENG):c.934del (p.Ala312fs) GRCh37: Chr9:130587136 GRCh38: Chr9:127824857	ENG	A130fs, A312fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151499913.	NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) GRCh37: Chr9:130582188 GRCh38: Chr9:127819909	ENG, LOC102723566	I239M, I421M	Hereditary hemorrhagic telangiectasia, Inborn genetic diseases, Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144779314.	NM_001114753.3(ENG):c.130T>C (p.Tyr44His) GRCh37: Chr9:130605462 GRCh38: Chr9:127843183	ENG	Y44H	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143657715.	NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) GRCh37: Chr9:130588809 GRCh38: Chr9:127826530	ENG	I168N	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142843716.	NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) GRCh37: Chr9:130588807 GRCh38: Chr9:127826528	ENG	L169F	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Uncertain significance (Nov 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134335517.	NM_001114753.3(ENG):c.1686+1G>T GRCh37: Chr9:130580398 GRCh38: Chr9:127818119	ENG, LOC102723566		not provided, Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134271718.	NM_001114753.3(ENG):c.-126G>A GRCh37: Chr9:130616760 GRCh38: Chr9:127854481	ENG		Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134271019.	NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) GRCh37: Chr9:130587536 GRCh38: Chr9:127825257	ENG	D264N, D82N	Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133164620.	NM_001114753.3(ENG):c.1687-1G>A GRCh37: Chr9:130579483 GRCh38: Chr9:127817204	ENG, LOC102723566		Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia, not provided, Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133098221.	NM_001114753.3(ENG):c.465dup (p.Ile156fs) GRCh37: Chr9:130588846-130588847 GRCh38: Chr9:127826567-127826568	ENG	I156fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Apr 9, 2021)	criteria provided, single submitter
Select item 133088222.	NM_001114753.3(ENG):c.501C>A (p.Ser167Arg) GRCh37: Chr9:130588811 GRCh38: Chr9:127826532	ENG	S167R	Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Nov 25, 2020)	criteria provided, single submitter
Select item 133066523.	NM_001114753.3(ENG):c.689+17G>A GRCh37: Chr9:130587957 GRCh38: Chr9:127825678	ENG		Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 1	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133063524.	NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) GRCh37: Chr9:130586630 GRCh38: Chr9:127824351	ENG	C181R, C363R	Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133055425.	NM_001114753.3(ENG):c.67+6_67+14del GRCh37: Chr9:130616554-130616562 GRCh38: Chr9:127854275-127854283	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 133051926.	NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) GRCh37: Chr9:130587538 GRCh38: Chr9:127825259	ENG	I263S, I81S	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jan 20, 2021)	criteria provided, single submitter
Select item 133047627.	NM_001114753.3(ENG):c.219+2T>C GRCh37: Chr9:130605371 GRCh38: Chr9:127843092	ENG		Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic/Likely pathogenic (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133038928.	NM_001114753.3(ENG):c.558del (p.Ser187fs) GRCh37: Chr9:130588105 GRCh38: Chr9:127825826	ENG	S187fs, S5fs	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133026629.	NM_001114753.3(ENG):c.524-1G>A GRCh37: Chr9:130588140 GRCh38: Chr9:127825861	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jul 29, 2021)	criteria provided, single submitter
Select item 132121630.	NM_001114753.3(ENG):c.673C>T (p.Pro225Ser) GRCh37: Chr9:130587990 GRCh38: Chr9:127825711	ENG	P225S, P43S	Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 132017831.	NM_001114753.3(ENG):c.1153del (p.Thr385fs) GRCh37: Chr9:130582298 GRCh38: Chr9:127820019	ENG, LOC102723566	T203fs, T385fs	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 129963632.	NM_001114753.3(ENG):c.296T>A (p.Leu99His) GRCh37: Chr9:130592030 GRCh38: Chr9:127829751	ENG	L99H	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 128477833.	NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) GRCh37: Chr9:130588080 GRCh38: Chr9:127825801	ENG	E13K, E195K	Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Jul 18, 2021)	criteria provided, single submitter
Select item 116303034.	NM_001114753.3(ENG):c.1429-1G>A GRCh37: Chr9:130580657 GRCh38: Chr9:127818378	ENG, LOC102723566		not provided, Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic/Likely pathogenic (Jul 8, 2020)	criteria provided, multiple submitters, no conflicts
Select item 112015835.	Single allele GRCh37: Chr9:130580995-130582316	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (May 15, 2020)	criteria provided, single submitter
Select item 112015736.	Single allele GRCh37: Chr9:130581901-130582316	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jun 25, 2019)	criteria provided, single submitter
Select item 112015637.	Single allele GRCh37: Chr9:130605373-130605524	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Mar 11, 2021)	criteria provided, single submitter
Select item 112015538.	Single allele GRCh37: Chr9:130605373-130605524	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (May 9, 2019)	criteria provided, single submitter
Select item 106180439.	NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) GRCh37: Chr9:130587181 GRCh38: Chr9:127824902	ENG	Q115E, Q297E	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Uncertain significance (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105640740.	NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) GRCh37: Chr9:130579439 GRCh38: Chr9:127817160	ENG, LOC102723566	P395R, P577R	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99568641.	NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) GRCh37: Chr9:130580440 GRCh38: Chr9:127818161	ENG, LOC102723566	C367G, C549G	Telangiectasia, hereditary hemorrhagic, type 1	Conflicting interpretations of pathogenicity (May 4, 2020)	criteria provided, conflicting interpretations
Select item 99568342.	NM_001114753.3(ENG):c.524-13C>T GRCh37: Chr9:130588152 GRCh38: Chr9:127825873	ENG		Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 1	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99560043.	NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) GRCh37: Chr9:130578267 GRCh38: Chr9:127815988	ENG	G421R, G603R	Telangiectasia, hereditary hemorrhagic, type 1, Cardiovascular phenotype	Uncertain significance (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 99434244.	NM_001114753.3(ENG):c.1290G>T (p.Leu430=) GRCh37: Chr9:130581922 GRCh38: Chr9:127819643	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 1	Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99424045.	NM_001114753.3(ENG):c.620G>T (p.Cys207Phe) GRCh37: Chr9:130588043 GRCh38: Chr9:127825764	ENG	C207F, C25F	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Mar 2, 2020)	criteria provided, single submitter
Select item 99423946.	NM_001114753.3(ENG):c.618C>A (p.Gly206=) GRCh37: Chr9:130588045 GRCh38: Chr9:127825766	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Likely benign (Mar 2, 2020)	criteria provided, single submitter
Select item 99414047.	NM_001114753.3(ENG):c.1429-8C>G GRCh37: Chr9:130580664 GRCh38: Chr9:127818385	ENG, LOC102723566		Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Apr 29, 2020)	criteria provided, single submitter
Select item 99390148.	NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) GRCh37: Chr9:130582235 GRCh38: Chr9:127819956	ENG, LOC102723566	R224G, R406G	Hereditary hemorrhagic telangiectasia, Telangiectasia, hereditary hemorrhagic, type 1	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 99386349.	NM_001114753.3(ENG):c.1272+2T>C GRCh37: Chr9:130582177 GRCh38: Chr9:127819898	ENG, LOC102723566		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 4, 2020)	criteria provided, single submitter
Select item 99360850.	NM_001114753.3(ENG):c.1977G>A (p.Ter659=) GRCh37: Chr9:130577961 GRCh38: Chr9:127815682	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Likely benign (Aug 16, 2019)	criteria provided, single submitter
Select item 98321051.	NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu) GRCh37: Chr9:130588800-130588801 GRCh38: Chr9:127826521-127826522	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98320952.	NM_001114753.3(ENG):c.496del (p.Gln166fs) GRCh37: Chr9:130588816 GRCh38: Chr9:127826537	ENG	Q166fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98320853.	NM_001114753.3(ENG):c.39del (p.Leu14fs) GRCh37: Chr9:130616596 GRCh38: Chr9:127854317	ENG	L14fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98320754.	NM_001114753.3(ENG):c.967_968del (p.Val323fs) GRCh37: Chr9:130587102-130587103 GRCh38: Chr9:127824823-127824824	ENG	V141fs, V323fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98320655.	NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) GRCh37: Chr9:130587147 GRCh38: Chr9:127824868	ENG	A126D, A308D	Telangiectasia, hereditary hemorrhagic, type 1, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98320556.	NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr) GRCh37: Chr9:130588043 GRCh38: Chr9:127825764	ENG	C207Y, C25Y	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98320457.	NM_001114753.3(ENG):c.496dup (p.Gln166fs) GRCh37: Chr9:130588815-130588816 GRCh38: Chr9:127826536-127826537	ENG	Q166fs	Telangiectasia, hereditary hemorrhagic, type 1, Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98320358.	NM_001114753.3(ENG):c.370del (p.Leu124fs) GRCh37: Chr9:130588942 GRCh38: Chr9:127826663	ENG	L124fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98320259.	NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) GRCh37: Chr9:130591998 GRCh38: Chr9:127829719	ENG	Q110*	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98320160.	NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro) GRCh37: Chr9:130580601 GRCh38: Chr9:127818322	ENG, LOC102723566	L313P, L495P	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98320061.	NM_001114753.3(ENG):c.146del (p.Val49fs) GRCh37: Chr9:130605446 GRCh38: Chr9:127843167	ENG	V49fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98319962.	NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs) GRCh37: Chr9:130580628-130580629 GRCh38: Chr9:127818349-127818350	ENG, LOC102723566	F304fs, F486fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98319863.	NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) GRCh37: Chr9:130581012 GRCh38: Chr9:127818733	ENG, LOC102723566	Q289, Q471	Cardiovascular phenotype, Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98319764.	NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter) GRCh37: Chr9:130581039 GRCh38: Chr9:127818760	LOC102723566, ENG	Q280, Q462	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98319665.	NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) GRCh37: Chr9:130581058 GRCh38: Chr9:127818779	ENG, LOC102723566	Y273, Y455	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98319566.	NM_001114753.3(ENG):c.1311+5G>C GRCh37: Chr9:130581896 GRCh38: Chr9:127819617	ENG, LOC102723566		Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98319467.	NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly) GRCh37: Chr9:130581086 GRCh38: Chr9:127818807	ENG, LOC102723566	D264G, D446G	Telangiectasia, hereditary hemorrhagic, type 1	Likely benign (Jan 1, 2018)	criteria provided, single submitter
Select item 98249668.	NM_001114753.3(ENG):c.1273-2A>T GRCh37: Chr9:130581941 GRCh38: Chr9:127819662	ENG, LOC102723566		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98249569.	NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) GRCh37: Chr9:130582183 GRCh38: Chr9:127819904	ENG, LOC102723566	N241S, N423S	not specified, Telangiectasia, hereditary hemorrhagic, type 1, not provided	Conflicting interpretations of pathogenicity (May 20, 2021)	criteria provided, conflicting interpretations
Select item 98249470.	NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp) GRCh37: Chr9:130582213 GRCh38: Chr9:127819934	ENG, LOC102723566	G231D, G413D	Telangiectasia, hereditary hemorrhagic, type 1	Likely benign (Jan 1, 2018)	criteria provided, single submitter
Select item 98249371.	NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter) GRCh37: Chr9:130582268 GRCh38: Chr9:127819989	ENG, LOC102723566	E213, E395	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98248472.	NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs) GRCh37: Chr9:130587169-130587171 GRCh38: Chr9:127824890-127824892	ENG	L118fs, L300fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98248373.	NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) GRCh37: Chr9:130587174 GRCh38: Chr9:127824895	ENG	L117R, L299R	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98248274.	NM_001114753.3(ENG):c.817-1G>A GRCh37: Chr9:130587254 GRCh38: Chr9:127824975	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98248175.	NM_001114753.3(ENG):c.776T>G (p.Val259Gly) GRCh37: Chr9:130587550 GRCh38: Chr9:127825271	ENG	V259G, V77G	Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98248076.	NM_001114753.3(ENG):c.772del (p.Tyr258fs) GRCh37: Chr9:130587554 GRCh38: Chr9:127825275	ENG	Y258fs, Y76fs	Cardiovascular phenotype, not provided, Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98247977.	NM_001114753.3(ENG):c.761_767dup (p.Pro257fs) GRCh37: Chr9:130587558-130587559 GRCh38: Chr9:127825279-127825280	ENG	P257fs, P75fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98247878.	NM_001114753.3(ENG):c.763G>T (p.Gly255Cys) GRCh37: Chr9:130587563 GRCh38: Chr9:127825284	ENG	G255C, G73C	Telangiectasia, hereditary hemorrhagic, type 1	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98247779.	NM_001114753.3(ENG):c.690-2A>G GRCh37: Chr9:130587638 GRCh38: Chr9:127825359	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98247680.	NM_001114753.3(ENG):c.667dup (p.Val223fs) GRCh37: Chr9:130587995-130587996 GRCh38: Chr9:127825716-127825717	ENG	V223fs, V41fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98247581.	NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) GRCh37: Chr9:130588017 GRCh38: Chr9:127825738	ENG	K216E, K34E	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 98247482.	NM_001114753.3(ENG):c.63dup (p.Thr22fs) GRCh37: Chr9:130616571-130616572 GRCh38: Chr9:127854292-127854293	ENG	T22fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98247383.	NM_001114753.3(ENG):c.298_299del (p.Ser100fs) GRCh37: Chr9:130592027-130592028 GRCh38: Chr9:127829748-127829749	ENG	S100fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98247284.	NM_001114753.3(ENG):c.239T>C (p.Leu80Pro) GRCh37: Chr9:130592087 GRCh38: Chr9:127829808	ENG	L80P	Telangiectasia, hereditary hemorrhagic, type 1	Uncertain significance (Jan 1, 2018)	criteria provided, single submitter
Select item 98247185.	NM_001114753.3(ENG):c.208G>T (p.Glu70Ter) GRCh37: Chr9:130605384 GRCh38: Chr9:127843105	ENG	E70*	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98247086.	NM_001114753.3(ENG):c.164del (p.Ala55fs) GRCh37: Chr9:130605428 GRCh38: Chr9:127843149	ENG	A55fs	Telangiectasia, hereditary hemorrhagic, type 1, Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98246987.	NM_001114753.3(ENG):c.1626del (p.Thr544fs) GRCh37: Chr9:130580459 GRCh38: Chr9:127818180	ENG, LOC102723566	T362fs, T544fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246888.	NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs) GRCh37: Chr9:130580502-130580503 GRCh38: Chr9:127818223-127818224	ENG, LOC102723566	P346fs, P528fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246789.	NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) GRCh37: Chr9:130580572 GRCh38: Chr9:127818293	ENG, LOC102723566	E323, E505	Telangiectasia, hereditary hemorrhagic, type 1, Cardiovascular phenotype	Pathogenic (Jan 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 98246690.	NM_001114753.3(ENG):c.1490dup (p.Leu497fs) GRCh37: Chr9:130580594-130580595 GRCh38: Chr9:127818315-127818316	ENG, LOC102723566	L315fs, L497fs	Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246591.	Single allele GRCh37: Chr9:130605269-130618535	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246492.	NM_001114753.3(ENG):c.68-4227_219+104del GRCh37: Chr9:130605269-130609751 GRCh38: Chr9:127842990-127847472	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246393.	NM_001114753.3(ENG):c.220-225_991+123del GRCh37: Chr9:130586956-130592331 GRCh38: Chr9:127824677-127830052	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246294.	NM_001114753.3(ENG):c.523+229_991+123del GRCh37: Chr9:130586956-130588560 GRCh38: Chr9:127824677-127826281	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246195.	NM_001114753.3(ENG):c.220-988_1134+331del GRCh37: Chr9:130586252-130593094 GRCh38: Chr9:127823973-127830815	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98246096.	NM_001114753.3(ENG):c.220-226_1134+331del GRCh37: Chr9:130586252-130592332 GRCh38: Chr9:127823973-127830053	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98245997.	Single allele GRCh37: Chr9:130581520-130593094	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98245898.	NC_000009.12:g.127814980_127830815del GRCh37: Chr9:130577259-130593094 GRCh38: Chr9:127814980-127830815	ENG, LOC102723566		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 98245799.	NC_000009.12:g.127814982_127820052del GRCh37: Chr9:130577259-130582329 GRCh38: Chr9:127814980-127820050	ENG, LOC102723566		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 982456100.	NM_001114753.3(ENG):c.524-1_689+1del GRCh37: Chr9:130587973-130588140 GRCh38: Chr9:127825694-127825861	ENG		Telangiectasia, hereditary hemorrhagic, type 1	Pathogenic (Jan 1, 2018)	criteria provided, single submitter

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