ClinVar for MedGen (Select 52657) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24223791.	NC_000009.11:g.(?_130587069)_(130592116_?)dup GRCh37: Chr9:130587069-130592116	ENG		Hereditary hemorrhagic telangiectasia	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 24223782.	NC_000009.11:g.(?_130578196)_(130582336_?)del GRCh37: Chr9:130578196-130582336	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 24223773.	NC_000009.11:g.(?_130586573)_(130592116_?)del GRCh37: Chr9:130586573-130592116	ENG		Hereditary hemorrhagic telangiectasia	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 24223764.	NC_000009.11:g.(?_130578196)_(130581131_?)del GRCh37: Chr9:130578196-130581131	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Oct 31, 2021)	criteria provided, single submitter
Select item 24223755.	NC_000009.11:g.(?_130579418)_(130579492_?)del GRCh37: Chr9:130579418-130579492	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 24223746.	NC_000009.11:g.(?_130586563)_(130587263_?)dup GRCh37: Chr9:130586563-130587263	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 24223737.	NC_000009.11:g.(?_130586563)_(130588971_?)dup GRCh37: Chr9:130586563-130588971	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 24210168.	NM_001114753.3(ENG):c.602C>A (p.Pro201Gln) GRCh37: Chr9:130588061 GRCh38: Chr9:127825782	ENG	P19Q, P201Q	Hereditary hemorrhagic telangiectasia	Benign (Jul 21, 2022)	criteria provided, single submitter
Select item 24197679.	NM_001114753.3(ENG):c.665G>A (p.Arg222Lys) GRCh37: Chr9:130587998 GRCh38: Chr9:127825719	ENG	R222K, R40K	Hereditary hemorrhagic telangiectasia	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 241880110.	NM_001114753.3(ENG):c.862C>T (p.Arg288Cys) GRCh37: Chr9:130587208 GRCh38: Chr9:127824929	ENG	R106C, R288C	Hereditary hemorrhagic telangiectasia	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 241879911.	NM_001114753.3(ENG):c.-75G>A GRCh37: Chr9:130616709 GRCh38: Chr9:127854430	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 220134912.	NM_001114753.3(ENG):c.1365C>T (p.Tyr455=) GRCh37: Chr9:130581058 GRCh38: Chr9:127818779	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Benign (Jun 15, 2022)	criteria provided, single submitter
Select item 219969813.	NM_001114753.3(ENG):c.176A>G (p.Asn59Ser) GRCh37: Chr9:130605416 GRCh38: Chr9:127843137	ENG	N59S	Hereditary hemorrhagic telangiectasia	Benign (Jul 23, 2022)	criteria provided, single submitter
Select item 219906214.	NM_001114753.3(ENG):c.-21A>G GRCh37: Chr9:130616655 GRCh38: Chr9:127854376	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 219625815.	NM_001114753.3(ENG):c.269C>T (p.Thr90Ile) GRCh37: Chr9:130592057 GRCh38: Chr9:127829778	ENG	T90I	Hereditary hemorrhagic telangiectasia	Benign (Jan 27, 2022)	criteria provided, single submitter
Select item 219483316.	NM_001114753.3(ENG):c.1108C>G (p.Leu370Val) GRCh37: Chr9:130586609 GRCh38: Chr9:127824330	ENG	L370V, L188V	Hereditary hemorrhagic telangiectasia	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 219277017.	NM_001114753.3(ENG):c.412C>T (p.Leu138=) GRCh37: Chr9:130588900 GRCh38: Chr9:127826621	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 219189618.	NM_001114753.3(ENG):c.933G>T (p.Val311=) GRCh37: Chr9:130587137 GRCh38: Chr9:127824858	ENG		Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia	Benign/Likely benign (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219024819.	NM_001114753.3(ENG):c.189A>G (p.Glu63=) GRCh37: Chr9:130605403 GRCh38: Chr9:127843124	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 218930520.	NM_001114753.3(ENG):c.1134+16C>A GRCh37: Chr9:130586567 GRCh38: Chr9:127824288	ENG	P384T	Hereditary hemorrhagic telangiectasia	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 218754221.	NM_001114753.3(ENG):c.574C>T (p.Arg192Cys) GRCh37: Chr9:130588089 GRCh38: Chr9:127825810	ENG	R192C, R10C	Hereditary hemorrhagic telangiectasia	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 218681022.	NM_001114753.3(ENG):c.-24C>T GRCh37: Chr9:130616658 GRCh38: Chr9:127854379	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 218405323.	NM_001114753.3(ENG):c.1290G>A (p.Leu430=) GRCh37: Chr9:130581922 GRCh38: Chr9:127819643	ENG, LOC102723566		Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia	Likely benign (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218277624.	NM_001114753.3(ENG):c.854A>G (p.Lys285Arg) GRCh37: Chr9:130587216 GRCh38: Chr9:127824937	ENG	K103R, K285R	Hereditary hemorrhagic telangiectasia	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 218090225.	NM_001114753.3(ENG):c.-115G>A GRCh37: Chr9:130616749 GRCh38: Chr9:127854470	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 218040126.	NM_001114753.3(ENG):c.885_886del (p.Pro296fs) GRCh37: Chr9:130587184-130587185 GRCh38: Chr9:127824905-127824906	ENG	P114fs, P296fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 217563627.	NM_001114753.3(ENG):c.10G>A (p.Gly4Ser) GRCh37: Chr9:130616625 GRCh38: Chr9:127854346	ENG	G4S	Hereditary hemorrhagic telangiectasia	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 217241128.	NM_001114753.3(ENG):c.1209T>C (p.Phe403=) GRCh37: Chr9:130582242 GRCh38: Chr9:127819963	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 217182629.	NM_001114753.3(ENG):c.816+13C>T GRCh37: Chr9:130587497 GRCh38: Chr9:127825218	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 217090530.	NM_001114753.3(ENG):c.1664C>A (p.Pro555His) GRCh37: Chr9:130580421 GRCh38: Chr9:127818142	ENG, LOC102723566	P373H, P555H	Hereditary hemorrhagic telangiectasia	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 217057931.	NM_001114753.3(ENG):c.1428+20C>A GRCh37: Chr9:130580975 GRCh38: Chr9:127818696	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 216487732.	NM_001114753.3(ENG):c.1273-14C>T GRCh37: Chr9:130581953 GRCh38: Chr9:127819674	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 216391733.	NM_001114753.3(ENG):c.568A>G (p.Met190Val) GRCh37: Chr9:130588095 GRCh38: Chr9:127825816	ENG	M190V, M8V	Hereditary hemorrhagic telangiectasia	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 216367934.	NM_001114753.3(ENG):c.689+20C>A GRCh37: Chr9:130587954 GRCh38: Chr9:127825675	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 216271035.	NM_001114753.3(ENG):c.1742-16C>T GRCh37: Chr9:130578348 GRCh38: Chr9:127816069	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Benign (May 11, 2022)	criteria provided, single submitter
Select item 216114536.	NM_001114753.3(ENG):c.809A>G (p.Gln270Arg) GRCh37: Chr9:130587517 GRCh38: Chr9:127825238	ENG	Q270R, Q88R	Hereditary hemorrhagic telangiectasia	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 216110937.	NM_001114753.3(ENG):c.1429-8C>T GRCh37: Chr9:130580664 GRCh38: Chr9:127818385	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 215976938.	NM_001114753.3(ENG):c.-133C>T GRCh37: Chr9:130616767 GRCh38: Chr9:127854488	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 215911139.	NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu) GRCh37: Chr9:130580412 GRCh38: Chr9:127818133	ENG, LOC102723566	G376E, G558E	Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 215894340.	NM_001114753.3(ENG):c.673C>A (p.Pro225Thr) GRCh37: Chr9:130587990 GRCh38: Chr9:127825711	ENG	P225T, P43T	Hereditary hemorrhagic telangiectasia	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 215880741.	NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly) GRCh37: Chr9:130586617 GRCh38: Chr9:127824338	ENG	A367G, A185G	Hereditary hemorrhagic telangiectasia	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 215758042.	NM_001114753.3(ENG):c.639C>T (p.Ala213=) GRCh37: Chr9:130588024 GRCh38: Chr9:127825745	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 215637243.	NM_001114753.3(ENG):c.-78G>A GRCh37: Chr9:130616712 GRCh38: Chr9:127854433	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 215466544.	NM_001114753.3(ENG):c.523+16A>C GRCh37: Chr9:130588773 GRCh38: Chr9:127826494	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 215373445.	NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser) GRCh37: Chr9:130579458 GRCh38: Chr9:127817179	ENG, LOC102723566	R571S, R389S	Hereditary hemorrhagic telangiectasia	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 215285746.	NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys) GRCh37: Chr9:130580512 GRCh38: Chr9:127818233	ENG, LOC102723566	E343K, E525K	Hereditary hemorrhagic telangiectasia	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 215206147.	NM_001114753.3(ENG):c.1311+1G>A GRCh37: Chr9:130581900 GRCh38: Chr9:127819621	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 215206048.	NM_001114753.3(ENG):c.1826C>T (p.Ala609Val) GRCh37: Chr9:130578248 GRCh38: Chr9:127815969	ENG	A427V, A609V	Hereditary hemorrhagic telangiectasia	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 215171149.	NM_001114753.3(ENG):c.-94C>G GRCh37: Chr9:130616728 GRCh38: Chr9:127854449	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 215115450.	NM_001114753.3(ENG):c.-12C>T GRCh37: Chr9:130616646 GRCh38: Chr9:127854367	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 214934251.	NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys) GRCh37: Chr9:130580632 GRCh38: Chr9:127818353	ENG, LOC102723566	E303K, E485K	Hereditary hemorrhagic telangiectasia	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 214908952.	NM_001114753.3(ENG):c.-69G>A GRCh37: Chr9:130616703 GRCh38: Chr9:127854424	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 214729253.	NM_001114753.3(ENG):c.198C>T (p.Val66=) GRCh37: Chr9:130605394 GRCh38: Chr9:127843115	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 214609754.	NM_001114753.3(ENG):c.1311+15C>T GRCh37: Chr9:130581886 GRCh38: Chr9:127819607	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 214590155.	NM_001114753.3(ENG):c.1312-19C>T GRCh37: Chr9:130581130 GRCh38: Chr9:127818851	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 214570456.	NM_001114753.3(ENG):c.651G>A (p.Glu217=) GRCh37: Chr9:130588012 GRCh38: Chr9:127825733	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 214188457.	NM_001114753.3(ENG):c.844T>G (p.Phe282Val) GRCh37: Chr9:130587226 GRCh38: Chr9:127824947	ENG	F100V, F282V	Hereditary hemorrhagic telangiectasia	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 214155758.	NM_001114753.3(ENG):c.660C>T (p.Ile220=) GRCh37: Chr9:130588003 GRCh38: Chr9:127825724	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 213681859.	NM_001114753.3(ENG):c.932T>G (p.Val311Gly) GRCh37: Chr9:130587138 GRCh38: Chr9:127824859	ENG	V129G, V311G	Hereditary hemorrhagic telangiectasia	Pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 213681760.	NM_001114753.3(ENG):c.1311+2T>C GRCh37: Chr9:130581899 GRCh38: Chr9:127819620	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 213681661.	NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter) GRCh37: Chr9:130581009 GRCh38: Chr9:127818730	ENG, LOC102723566	Q290, Q472	Hereditary hemorrhagic telangiectasia	Pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 213681562.	NM_001114753.3(ENG):c.1583dup (p.Arg529fs) GRCh37: Chr9:130580501-130580502 GRCh38: Chr9:127818222-127818223	ENG, LOC102723566	R529fs, R347fs	Hereditary hemorrhagic telangiectasia	Pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 213580963.	NM_001114753.3(ENG):c.992-49_1046del GRCh37: Chr9:130586671-130586774 GRCh38: Chr9:127824392-127824495	ENG		Hereditary hemorrhagic telangiectasia	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 213275464.	NM_001114753.3(ENG):c.-111G>A GRCh37: Chr9:130616745 GRCh38: Chr9:127854466	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 213228765.	NM_001114753.3(ENG):c.966dup (p.Val323fs) GRCh37: Chr9:130587103-130587104 GRCh38: Chr9:127824824-127824825	ENG	V323fs, V141fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 212785366.	NM_001114753.3(ENG):c.68-2A>T GRCh37: Chr9:130605526 GRCh38: Chr9:127843247	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 212619367.	NM_001114753.3(ENG):c.26C>G (p.Ala9Gly) GRCh37: Chr9:130616609 GRCh38: Chr9:127854330	ENG	A9G	Hereditary hemorrhagic telangiectasia	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212311868.	NM_001114753.3(ENG):c.410A>G (p.Glu137Gly) GRCh37: Chr9:130588902 GRCh38: Chr9:127826623	ENG	E137G	Hereditary hemorrhagic telangiectasia	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212129569.	NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del) GRCh37: Chr9:130588826-130588849 GRCh38: Chr9:127826547-127826570	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 212030570.	NM_001114753.3(ENG):c.219+4_219+7del GRCh37: Chr9:130605366-130605369 GRCh38: Chr9:127843087-127843090	ENG		Hereditary hemorrhagic telangiectasia	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 212004471.	NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser) GRCh37: Chr9:130582237 GRCh38: Chr9:127819958	ENG, LOC102723566	L405S, L223S	Hereditary hemorrhagic telangiectasia	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 211923172.	NM_001114753.3(ENG):c.613dup (p.Arg205fs) GRCh37: Chr9:130588049-130588050 GRCh38: Chr9:127825770-127825771	ENG	R205fs, R23fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 210804573.	NM_001114753.3(ENG):c.192C>T (p.Val64=) GRCh37: Chr9:130605400 GRCh38: Chr9:127843121	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 210434174.	NM_001114753.3(ENG):c.-59C>A GRCh37: Chr9:130616693 GRCh38: Chr9:127854414	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210140775.	NM_001114753.3(ENG):c.400A>G (p.Asn134Asp) GRCh37: Chr9:130588912 GRCh38: Chr9:127826633	ENG	N134D	Hereditary hemorrhagic telangiectasia	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 209439576.	NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs) GRCh37: Chr9:130587196-130587198 GRCh38: Chr9:127824917-127824919	ENG	K291fs, K109fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 209375977.	NM_001114753.3(ENG):c.220-12T>A GRCh37: Chr9:130592118 GRCh38: Chr9:127829839	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209237778.	NM_001114753.3(ENG):c.1741+8C>A GRCh37: Chr9:130579420 GRCh38: Chr9:127817141	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 209206179.	NM_001114753.3(ENG):c.875dup (p.Asp294fs) GRCh37: Chr9:130587194-130587195 GRCh38: Chr9:127824915-127824916	ENG	D294fs, D112fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 209072580.	NM_001114753.3(ENG):c.278del (p.Arg93fs) GRCh37: Chr9:130592048 GRCh38: Chr9:127829769	ENG	R93fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 209058781.	NM_001114753.3(ENG):c.973dup (p.Leu325fs) GRCh37: Chr9:130587096-130587097 GRCh38: Chr9:127824817-127824818	ENG	L325fs, L143fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 209017282.	NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys) GRCh37: Chr9:130591967 GRCh38: Chr9:127829688	ENG	Y120C	Hereditary hemorrhagic telangiectasia	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 208587483.	NM_001114753.3(ENG):c.965T>C (p.Ile322Thr) GRCh37: Chr9:130587105 GRCh38: Chr9:127824826	ENG	I322T, I140T	Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 208112384.	NM_001114753.3(ENG):c.513A>C (p.Arg171=) GRCh37: Chr9:130588799 GRCh38: Chr9:127826520	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 208084685.	NM_001114753.3(ENG):c.689+16C>T GRCh37: Chr9:130587958 GRCh38: Chr9:127825679	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 207666086.	NM_001114753.3(ENG):c.1089T>C (p.Cys363=) GRCh37: Chr9:130586628 GRCh38: Chr9:127824349	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 207649987.	NM_001114753.3(ENG):c.924_927dup (p.Ile310fs) GRCh37: Chr9:130587142-130587143 GRCh38: Chr9:127824863-127824864	ENG	I128fs, I310fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 207649088.	NM_001114753.3(ENG):c.944_945del (p.Val315fs) GRCh37: Chr9:130587125-130587126 GRCh38: Chr9:127824846-127824847	ENG	V133fs, V315fs	Hereditary hemorrhagic telangiectasia	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 207621089.	NM_001114753.3(ENG):c.1273-14C>G GRCh37: Chr9:130581953 GRCh38: Chr9:127819674	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 207591090.	NM_001114753.3(ENG):c.1429-16C>T GRCh37: Chr9:130580672 GRCh38: Chr9:127818393	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 207374591.	NM_001114753.3(ENG):c.-112C>T GRCh37: Chr9:130616746 GRCh38: Chr9:127854467	ENG		Hereditary hemorrhagic telangiectasia	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 207252792.	NM_001114753.3(ENG):c.1218C>T (p.Arg406=) GRCh37: Chr9:130582233 GRCh38: Chr9:127819954	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 207209093.	NM_001114753.3(ENG):c.816+8G>A GRCh37: Chr9:130587502 GRCh38: Chr9:127825223	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 206647094.	NM_001114753.3(ENG):c.1661G>A (p.Arg554His) GRCh37: Chr9:130580424 GRCh38: Chr9:127818145	ENG, LOC102723566	R372H, R554H	Hereditary hemorrhagic telangiectasia	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 206406295.	NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr) GRCh37: Chr9:130581912 GRCh38: Chr9:127819633	ENG, LOC102723566	S434T, S252T	Hereditary hemorrhagic telangiectasia	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 206078496.	NM_001114753.3(ENG):c.327C>G (p.Leu109=) GRCh37: Chr9:130591999 GRCh38: Chr9:127829720	ENG		Hereditary hemorrhagic telangiectasia	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 205577197.	NM_001114753.3(ENG):c.435G>C (p.Gln145His) GRCh37: Chr9:130588877 GRCh38: Chr9:127826598	ENG	Q145H	Hereditary hemorrhagic telangiectasia	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 205577098.	NM_001114753.3(ENG):c.437del (p.Ile146fs) GRCh37: Chr9:130588875 GRCh38: Chr9:127826596	ENG	I146fs	Hereditary hemorrhagic telangiectasia	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 205530799.	NM_001114753.3(ENG):c.638C>A (p.Ala213Asp) GRCh37: Chr9:130588025 GRCh38: Chr9:127825746	ENG	A213D, A31D	Hereditary hemorrhagic telangiectasia	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 2054542100.	NM_001114753.3(ENG):c.1278G>A (p.Val426=) GRCh37: Chr9:130581934 GRCh38: Chr9:127819655	ENG, LOC102723566		Hereditary hemorrhagic telangiectasia	Likely benign (Nov 12, 2019)	criteria provided, single submitter

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