ClinVar for MedGen (Select 373205) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 1130

<< First< Prev

Page of 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24418511.	NM_001005242.3(PKP2):c.1839+2T>A GRCh37: Chr12:32975399 GRCh38: Chr12:32822465	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Nov 5, 2022)	criteria provided, single submitter
Select item 24349132.	NM_001005242.3(PKP2):c.2284A>T (p.Ser762Cys) GRCh37: Chr12:32949116 GRCh38: Chr12:32796182	PKP2	S653C, S707C, S762C, S806C	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Feb 8, 2021)	criteria provided, single submitter
Select item 24349123.	NM_001005242.3(PKP2):c.1195A>C (p.Lys399Gln) GRCh37: Chr12:33003883 GRCh38: Chr12:32850949	PKP2	K290Q, K399Q	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 24327364.	NM_001005242.3(PKP2):c.1382del (p.Leu461fs) GRCh37: Chr12:32994136 GRCh38: Chr12:32841202	PKP2	L461fs, L505fs	Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 24251765.	NC_000012.11:g.(?_32945558)_(32949252_?)dup GRCh37: Chr12:32945558-32949252	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 24251756.	NC_000012.11:g.(?_33021841)_(33049665_?)dup GRCh37: Chr12:33021841-33049665	PKP2		Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 24251747.	NC_000012.11:g.(?_33021841)_(33031986_?)del GRCh37: Chr12:33021841-33031986	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 26, 2022)	criteria provided, single submitter
Select item 24251738.	NC_000012.11:g.(?_32945358)_(32949252_?)del GRCh37: Chr12:32945358-32949252	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 24251729.	NC_000012.11:g.(?_32949023)_(32955510_?)del GRCh37: Chr12:32949023-32955510	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 242517110.	NC_000012.11:g.(?_32949023)_(32949252_?)del GRCh37: Chr12:32949023-32949252	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 242517011.	NC_000012.11:g.(?_32975391)_(32977106_?)dup GRCh37: Chr12:32975391-32977106	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 242355612.	NC_000012.11:g.(?_32729292)_(33049665_?)dup GRCh37: Chr12:32729292-33049665	YARS2, PKP2, FGD4, DNM1L		Arrhythmogenic right ventricular dysplasia 9, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 242133213.	NM_001005242.3(PKP2):c.2415A>G (p.Ala805=) GRCh37: Chr12:32945608 GRCh38: Chr12:32792674	PKP2	H633R, H742R	Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype	Likely benign (Feb 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241597114.	NM_001005242.3(PKP2):c.1297G>A (p.Val433Met) GRCh37: Chr12:33003781 GRCh38: Chr12:32850847	PKP2	V324M, V433M	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 241272515.	NM_001005242.3(PKP2):c.335dup (p.Ala113fs) GRCh37: Chr12:33031854-33031855 GRCh38: Chr12:32878920-32878921	PKP2	A113fs	Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 220092516.	NM_001005242.3(PKP2):c.224-14T>C GRCh37: Chr12:33031980 GRCh38: Chr12:32879046	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219944817.	NM_001005242.3(PKP2):c.1379-2058C>T GRCh37: Chr12:32996197 GRCh38: Chr12:32843263	PKP2	H477Y	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 219866118.	NM_001005242.3(PKP2):c.1152A>G (p.Lys384=) GRCh37: Chr12:33021879 GRCh38: Chr12:32868945	PKP2		Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype	Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219589419.	NM_001005242.3(PKP2):c.2036C>T (p.Thr679Ile) GRCh37: Chr12:32955468 GRCh38: Chr12:32802534	PKP2	T723I, T570I, T624I, T679I	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 219511820.	NM_001005242.3(PKP2):c.1120G>T (p.Ala374Ser) GRCh37: Chr12:33021911 GRCh38: Chr12:32868977	PKP2	A265S, A374S	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 218969621.	NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile) GRCh37: Chr12:32949178 GRCh38: Chr12:32796244	PKP2	T686I, T785I, T741I, T632I	Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218853522.	NM_001005242.3(PKP2):c.1423A>C (p.Met475Leu) GRCh37: Chr12:32994095 GRCh38: Chr12:32841161	PKP2	M366L, M475L, M519L	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 218546623.	NM_001005242.3(PKP2):c.613G>A (p.Ala205Thr) GRCh37: Chr12:33031201 GRCh38: Chr12:32878267	PKP2	A205T, A96T	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 217967624.	NM_001005242.3(PKP2):c.2445+18G>A GRCh37: Chr12:32945560 GRCh38: Chr12:32792626	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 217464925.	NM_001005242.3(PKP2):c.1379-2040A>G GRCh37: Chr12:32996179 GRCh38: Chr12:32843245	PKP2	T483A	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 217255626.	NM_001005242.3(PKP2):c.131G>A (p.Ser44Asn) GRCh37: Chr12:33049535 GRCh38: Chr12:32896601	PKP2	S44N	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 216476427.	NM_001005242.3(PKP2):c.1840-6G>T GRCh37: Chr12:32974469 GRCh38: Chr12:32821535	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 216165728.	NM_001005242.3(PKP2):c.1649T>C (p.Ile550Thr) GRCh37: Chr12:32977004 GRCh38: Chr12:32824070	PKP2	I594T, I441T, I550T	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216163829.	NM_001005242.3(PKP2):c.779A>G (p.Asn260Ser) GRCh37: Chr12:33031035 GRCh38: Chr12:32878101	PKP2	N151S, N260S	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 215807330.	NM_001005242.3(PKP2):c.482A>G (p.Tyr161Cys) GRCh37: Chr12:33031332 GRCh38: Chr12:32878398	PKP2	Y161C, Y52C	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 215430731.	NM_001005242.3(PKP2):c.2427G>A (p.Leu809=) GRCh37: Chr12:32945596 GRCh38: Chr12:32792662	PKP2	C746Y, C637Y	Arrhythmogenic right ventricular dysplasia 9	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 215008332.	NM_001005242.3(PKP2):c.163C>T (p.Arg55Trp) GRCh37: Chr12:33049503 GRCh38: Chr12:32896569	PKP2	R55W	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 214937633.	NM_001005242.3(PKP2):c.2445+17G>A GRCh37: Chr12:32945561 GRCh38: Chr12:32792627	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 214805334.	NM_001005242.3(PKP2):c.2251G>A (p.Ala751Thr) GRCh37: Chr12:32949149 GRCh38: Chr12:32796215	PKP2	A642T, A795T, A696T, A751T	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 214805135.	NM_001005242.3(PKP2):c.2446-11T>C GRCh37: Chr12:32945437 GRCh38: Chr12:32792503	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 214774536.	NM_001005242.3(PKP2):c.834G>C (p.Gln278His) GRCh37: Chr12:33030980 GRCh38: Chr12:32878046	PKP2	Q169H, Q278H	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 214588437.	NM_001005242.3(PKP2):c.1170+19C>G GRCh37: Chr12:33021842 GRCh38: Chr12:32868908	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 214279538.	NM_001005242.3(PKP2):c.2014-16A>G GRCh37: Chr12:32955506 GRCh38: Chr12:32802572	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 214132739.	NM_001005242.3(PKP2):c.1409A>G (p.Lys470Arg) GRCh37: Chr12:32994109 GRCh38: Chr12:32841175	PKP2	K361R, K470R, K514R	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 213731140.	NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter) GRCh37: Chr12:32974340 GRCh38: Chr12:32821406	PKP2	Q655, Q546, Q600, Q699	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 213731041.	NM_001005242.3(PKP2):c.2126T>A (p.Leu709Gln) GRCh37: Chr12:32955378 GRCh38: Chr12:32802444	PKP2	L600Q, L709Q, L654Q, L753Q	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 213301342.	NM_001005242.3(PKP2):c.2251G>C (p.Ala751Pro) GRCh37: Chr12:32949149 GRCh38: Chr12:32796215	PKP2	A696P, A751P, A642P, A795P	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 213149143.	NM_001005242.3(PKP2):c.308_309del (p.Pro103fs) GRCh37: Chr12:33031881-33031882 GRCh38: Chr12:32878947-32878948	PKP2	P103fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 212903744.	NM_001005242.3(PKP2):c.1170+1G>T GRCh37: Chr12:33021860 GRCh38: Chr12:32868926	PKP2		Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 212654145.	NM_001005242.3(PKP2):c.875A>G (p.Gln292Arg) GRCh37: Chr12:33030939 GRCh38: Chr12:32878005	PKP2	Q183R, Q292R	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212545846.	NM_001005242.3(PKP2):c.928G>C (p.Val310Leu) GRCh37: Chr12:33030886 GRCh38: Chr12:32877952	PKP2	V201L, V310L	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212544847.	NM_001005242.3(PKP2):c.1491del (p.Asp498fs) GRCh37: Chr12:32994027 GRCh38: Chr12:32841093	PKP2	D542fs, D498fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212540248.	NM_001005242.3(PKP2):c.409del (p.Glu137fs) GRCh37: Chr12:33031405 GRCh38: Chr12:32878471	PKP2	E137fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 212446749.	NM_001005242.3(PKP2):c.2195C>T (p.Ser732Phe) GRCh37: Chr12:32949205 GRCh38: Chr12:32796271	PKP2	S623F, S677F, S732F, S776F	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212178850.	NM_001005242.3(PKP2):c.1170+3G>C GRCh37: Chr12:33021858 GRCh38: Chr12:32868924	PKP2		Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 211837751.	NM_001005242.3(PKP2):c.809A>G (p.Gln270Arg) GRCh37: Chr12:33031005 GRCh38: Chr12:32878071	PKP2	Q270R, Q161R	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 211787952.	NM_001005242.3(PKP2):c.447G>A (p.Glu149=) GRCh37: Chr12:33031367 GRCh38: Chr12:32878433	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 210408853.	NM_001005242.3(PKP2):c.1675-11del GRCh37: Chr12:32975576 GRCh38: Chr12:32822642	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 210127854.	NM_001005242.3(PKP2):c.2235T>A (p.Ile745=) GRCh37: Chr12:32949165 GRCh38: Chr12:32796231	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 210076955.	NM_001005242.3(PKP2):c.2175A>T (p.Glu725Asp) GRCh37: Chr12:32949225 GRCh38: Chr12:32796291	PKP2	E670D, E769D, E616D, E725D	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 210008456.	NM_001005242.3(PKP2):c.173dup (p.Gln59fs) GRCh37: Chr12:33049492-33049493 GRCh38: Chr12:32896558-32896559	PKP2	Q59fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 209741857.	NM_001005242.3(PKP2):c.2446-5del GRCh37: Chr12:32945431 GRCh38: Chr12:32792497	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 209254758.	NM_001005242.3(PKP2):c.958_979del (p.Thr320fs) GRCh37: Chr12:33030835-33030856 GRCh38: Chr12:32877901-32877922	PKP2	T320fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 208847959.	NM_001005242.3(PKP2):c.433C>G (p.Leu145Val) GRCh37: Chr12:33031381 GRCh38: Chr12:32878447	PKP2	L145V, L36V	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208799260.	NM_001005242.3(PKP2):c.121del (p.Ala41fs) GRCh37: Chr12:33049545 GRCh38: Chr12:32896611	PKP2	A41fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 208466761.	NM_001005242.3(PKP2):c.2326C>A (p.Gln776Lys) GRCh37: Chr12:32949074 GRCh38: Chr12:32796140	PKP2	Q776K, Q667K, Q721K, Q820K	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 208456962.	NM_001005242.3(PKP2):c.2358-10T>C GRCh37: Chr12:32945675 GRCh38: Chr12:32792741	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 208268263.	NM_001005242.3(PKP2):c.1379-2004G>A GRCh37: Chr12:32996143 GRCh38: Chr12:32843209	PKP2	G495R	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 208056664.	NM_001005242.3(PKP2):c.1379-1990G>T GRCh37: Chr12:32996129 GRCh38: Chr12:32843195	PKP2	Q499H	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 208029565.	NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val) GRCh37: Chr12:32949043 GRCh38: Chr12:32796109	PKP2	A731V, A830V, A677V, A786V	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 207623466.	NM_001005242.3(PKP2):c.1212A>C (p.Leu404=) GRCh37: Chr12:33003866 GRCh38: Chr12:32850932	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 206191267.	NM_001005242.3(PKP2):c.123G>A (p.Ala41=) GRCh37: Chr12:33049543 GRCh38: Chr12:32896609	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 205578768.	NM_001005242.3(PKP2):c.306C>T (p.Ser102=) GRCh37: Chr12:33031884 GRCh38: Chr12:32878950	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 204678869.	NM_001005242.3(PKP2):c.224-1G>A GRCh37: Chr12:33031967 GRCh38: Chr12:32879033	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 204570970.	NM_001005242.3(PKP2):c.1673del (p.Lys558fs) GRCh37: Chr12:32976980 GRCh38: Chr12:32824046	PKP2	K558fs, K602fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 204375171.	NM_001005242.3(PKP2):c.2193_2198del (p.Ser732_Ile733del) GRCh37: Chr12:32949202-32949207 GRCh38: Chr12:32796268-32796273	PKP2		Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 204009572.	NM_001005242.3(PKP2):c.920G>T (p.Ser307Ile) GRCh37: Chr12:33030894 GRCh38: Chr12:32877960	PKP2	S307I, S198I	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 204009273.	NM_001005242.3(PKP2):c.921dup (p.Val308fs) GRCh37: Chr12:33030892-33030893 GRCh38: Chr12:32877958-32877959	PKP2	V308fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 203813774.	NM_001005242.3(PKP2):c.1A>G (p.Met1Val) GRCh37: Chr12:33049665 GRCh38: Chr12:32896731	PKP2	M1V	Arrhythmogenic right ventricular dysplasia 9	Likely pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 203808275.	NM_001005242.3(PKP2):c.223+18C>T GRCh37: Chr12:33049425 GRCh38: Chr12:32896491	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 203651876.	NM_001005242.3(PKP2):c.1439del (p.Leu480fs) GRCh37: Chr12:32994079 GRCh38: Chr12:32841145	PKP2	L480fs, L524fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 22, 2022)	criteria provided, single submitter
Select item 203307977.	NM_001005242.3(PKP2):c.1719G>A (p.Gln573=) GRCh37: Chr12:32975521 GRCh38: Chr12:32822587	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203306878.	NM_001005242.3(PKP2):c.1278C>T (p.Asp426=) GRCh37: Chr12:33003800 GRCh38: Chr12:32850866	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203221779.	NM_001005242.3(PKP2):c.1170+10A>C GRCh37: Chr12:33021851 GRCh38: Chr12:32868917	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203212780.	NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs) GRCh37: Chr12:33030811-33030812 GRCh38: Chr12:32877877-32877878	PKP2	R336fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 203212481.	NM_001005242.3(PKP2):c.1737A>T (p.Pro579=) GRCh37: Chr12:32975503 GRCh38: Chr12:32822569	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203211982.	NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter) GRCh37: Chr12:33003874 GRCh38: Chr12:32850940	PKP2	Q293, Q402	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 203197383.	NM_001005242.3(PKP2):c.561C>G (p.Ala187=) GRCh37: Chr12:33031253 GRCh38: Chr12:32878319	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 203144884.	NM_001005242.3(PKP2):c.1126_1131dup (p.Ile377_Gln378insPheIle) GRCh37: Chr12:33021899-33021900 GRCh38: Chr12:32868965-32868966	PKP2		Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 203021985.	NM_001005242.3(PKP2):c.1941C>T (p.Ala647=) GRCh37: Chr12:32974362 GRCh38: Chr12:32821428	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 202993486.	NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter) GRCh37: Chr12:32994129 GRCh38: Chr12:32841195	PKP2	W354, W463, W507*	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 202980687.	NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs) GRCh37: Chr12:32945657-32945664 GRCh38: Chr12:32792723-32792730	PKP2	Y831fs, Y787fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 202963588.	NM_001005242.3(PKP2):c.963C>G (p.Val321=) GRCh37: Chr12:33030851 GRCh38: Chr12:32877917	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202286389.	NM_001005242.3(PKP2):c.438G>A (p.Arg146=) GRCh37: Chr12:33031376 GRCh38: Chr12:32878442	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 202221090.	NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs) GRCh37: Chr12:32975497-32975498 GRCh38: Chr12:32822563-32822564	PKP2	K581fs, K625fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 202209291.	NM_001005242.3(PKP2):c.1557-10T>G GRCh37: Chr12:32977106 GRCh38: Chr12:32824172	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 201779292.	NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter) GRCh37: Chr12:32974402 GRCh38: Chr12:32821468	PKP2	W579, W678, W525, W634	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 201677693.	NM_001005242.3(PKP2):c.258T>C (p.Tyr86=) GRCh37: Chr12:33031932 GRCh38: Chr12:32878998	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201571494.	NM_001005242.3(PKP2):c.1020T>C (p.Thr340=) GRCh37: Chr12:33030794 GRCh38: Chr12:32877860	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 201298195.	NM_001005242.3(PKP2):c.343A>G (p.Thr115Ala) GRCh37: Chr12:33031471 GRCh38: Chr12:32878537	PKP2	T115A, T6A	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 201188096.	NM_001005242.3(PKP2):c.336+20A>G GRCh37: Chr12:33031834 GRCh38: Chr12:32878900	PKP2		Arrhythmogenic right ventricular dysplasia 9	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 201142097.	NM_001005242.3(PKP2):c.1544C>T (p.Thr515Ile) GRCh37: Chr12:32993974 GRCh38: Chr12:32841040	PKP2	T406I, T515I, T559I	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 200958698.	NM_001005242.3(PKP2):c.208A>G (p.Ser70Gly) GRCh37: Chr12:33049458 GRCh38: Chr12:32896524	PKP2	S70G	Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 200424799.	NM_001005242.3(PKP2):c.2357+6T>G GRCh37: Chr12:32949037 GRCh38: Chr12:32796103	PKP2		Arrhythmogenic right ventricular dysplasia 9	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 1996532100.	NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs) GRCh37: Chr12:33031105-33031106 GRCh38: Chr12:32878171-32878172	PKP2	N237fs	Arrhythmogenic right ventricular dysplasia 9	Pathogenic (Oct 17, 2022)	criteria provided, single submitter

<< First< Prev

Page of 12