ClinVar for MedGen (Select 343106) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24417771.	NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser) GRCh37: Chr19:54407944 GRCh38: Chr19:53904690	PRKCG	T571S	Spinocerebellar ataxia type 14	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 24297332.	NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala) GRCh37: Chr19:54401833 GRCh38: Chr19:53898579	PRKCG	G411A	Spinocerebellar ataxia type 14	Uncertain significance (Jul 6, 2022)	no assertion criteria provided
Select item 17054233.	NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg) GRCh37: Chr19:54403999 GRCh38: Chr19:53900745	PRKCG	P524R	Spinocerebellar ataxia type 14	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 15279114.	NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) GRCh37: Chr19:54409706 GRCh38: Chr19:53906452	PRKCG	R634C	Spinocerebellar ataxia type 14	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 13338565.	NM_002739.5(PRKCG):c.686+300C>G GRCh37: Chr19:54395384 GRCh38: Chr19:53892130	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Sep 10, 2019)	criteria provided, single submitter
Select item 13338556.	NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) GRCh37: Chr19:54387432 GRCh38: Chr19:53884178	PRKCG	H74Y	Spinocerebellar ataxia type 14	Likely pathogenic (Jun 2, 2020)	criteria provided, single submitter
Select item 12982917.	NM_002739.5(PRKCG):c.107A>G (p.His36Arg) GRCh37: Chr19:54385855 GRCh38: Chr19:53882601	PRKCG	H36R	Spinocerebellar ataxia type 14	Pathogenic (Jul 22, 2021)	no assertion criteria provided
Select item 11845218.	NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro) GRCh37: Chr19:54393000 GRCh38: Chr19:53889746	PRKCG	S132P	Spinocerebellar ataxia type 14	Likely pathogenic	no assertion criteria provided
Select item 11845209.	NM_002739.5(PRKCG):c.381G>T (p.Gln127His) GRCh37: Chr19:54392987 GRCh38: Chr19:53889733	PRKCG	Q127H	Spinocerebellar ataxia type 14	Likely pathogenic	no assertion criteria provided
Select item 118451910.	NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) GRCh37: Chr19:54392929 GRCh38: Chr19:53889675	PRKCG	Y108C	Spinocerebellar ataxia type 14	Likely pathogenic	no assertion criteria provided
Select item 102804311.	NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr) GRCh37: Chr19:54401811 GRCh38: Chr19:53898557	PRKCG	A404T	Spinocerebellar ataxia type 14	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102751012.	NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln) GRCh37: Chr19:54393161 GRCh38: Chr19:53889907	PRKCG	R140Q	Spinocerebellar ataxia type 14	Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 102750913.	NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro) GRCh37: Chr19:54392986 GRCh38: Chr19:53889732	PRKCG	Q127P	Spinocerebellar ataxia type 14	Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 102748114.	NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter) GRCh37: Chr19:54403513 GRCh38: Chr19:53900259	PRKCG	Y436*	Spinocerebellar ataxia type 14	Pathogenic (Jan 4, 2021)	criteria provided, single submitter
Select item 102748015.	NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys) GRCh37: Chr19:54393208 GRCh38: Chr19:53889954	PRKCG	E156K	not provided, Spinocerebellar ataxia type 14	Conflicting interpretations of pathogenicity (Jul 12, 2021)	criteria provided, conflicting interpretations
Select item 102747916.	NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr) GRCh37: Chr19:54403680 GRCh38: Chr19:53900426	PRKCG	A461T	Spinocerebellar ataxia type 14	Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 102747817.	NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys) GRCh37: Chr19:54409983 GRCh38: Chr19:53906729	PRKCG	F643C	Spinocerebellar ataxia type 14	Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter
Select item 102747718.	NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe) GRCh37: Chr19:54392964 GRCh38: Chr19:53889710	PRKCG	L120F	Spinocerebellar ataxia type 14	Likely pathogenic (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97827219.	NM_002739.5(PRKCG):c.347A>G (p.His116Arg) GRCh37: Chr19:54392953 GRCh38: Chr19:53889699	PRKCG	H116R	Autosomal dominant cerebellar ataxia, Spinocerebellar ataxia type 14	Uncertain significance (Dec 8, 2022)	criteria provided, single submitter
Select item 91817520.	NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu) GRCh37: Chr19:54387497 GRCh38: Chr19:53884243	PRKCG	D95E	Spinocerebellar ataxia type 14	not provided	no assertion provided
Select item 91817421.	NM_002739.5(PRKCG):c.302A>G (p.His101Arg) GRCh37: Chr19:54392908 GRCh38: Chr19:53889654	PRKCG	H101R	Spinocerebellar ataxia type 14	not provided	no assertion provided
Select item 91817322.	NM_002739.5(PRKCG):c.767T>C (p.Met256Thr) GRCh37: Chr19:54395843 GRCh38: Chr19:53892589	PRKCG	M256T	Spinocerebellar ataxia type 14	not provided	no assertion provided
Select item 91817223.	NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter) GRCh37: Chr19:54387438 GRCh38: Chr19:53884184	PRKCG	R76*	Spinocerebellar ataxia type 14	not provided	no assertion provided
Select item 89464324.	NM_002739.5(PRKCG):c.*184C>T GRCh37: Chr19:54410333 GRCh38: Chr19:53907079	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89464225.	NM_002739.5(PRKCG):c.*84C>A GRCh37: Chr19:54410233 GRCh38: Chr19:53906979	PRKCG		Spinocerebellar ataxia type 14	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89461826.	NM_002739.5(PRKCG):c.498G>T (p.Arg166=) GRCh37: Chr19:54393240 GRCh38: Chr19:53889986	PRKCG		Spinocerebellar ataxia type 14	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89461727.	NM_002739.5(PRKCG):c.234C>T (p.His78=) GRCh37: Chr19:54387446 GRCh38: Chr19:53884192	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89424728.	NM_002739.5(PRKCG):c.1906-10T>C GRCh37: Chr19:54409951 GRCh38: Chr19:53906697	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89424629.	NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu) GRCh37: Chr19:54409710 GRCh38: Chr19:53906456	PRKCG	P635L	Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89424530.	NM_002739.5(PRKCG):c.1764+8C>T GRCh37: Chr19:54408004 GRCh38: Chr19:53904750	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89343831.	NM_002739.5(PRKCG):c.*622C>G GRCh37: Chr19:54410771 GRCh38: Chr19:53907517	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89340832.	NM_002739.5(PRKCG):c.1665C>T (p.Phe555=) GRCh37: Chr19:54407897 GRCh38: Chr19:53904643	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89340733.	NM_002739.5(PRKCG):c.1282-14G>A GRCh37: Chr19:54403473 GRCh38: Chr19:53900219	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89340634.	NM_002739.5(PRKCG):c.940-3C>T GRCh37: Chr19:54401210 GRCh38: Chr19:53897956	PRKCG		Spinocerebellar ataxia type 14	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89340535.	NM_002739.5(PRKCG):c.822-14C>T GRCh37: Chr19:54396228 GRCh38: Chr19:53892974	PRKCG		Spinocerebellar ataxia type 14	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89263536.	NM_002739.5(PRKCG):c.*426C>T GRCh37: Chr19:54410575 GRCh38: Chr19:53907321	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89263437.	NM_002739.5(PRKCG):c.*415G>C GRCh37: Chr19:54410564 GRCh38: Chr19:53907310	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89259538.	NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp) GRCh37: Chr19:54395787 GRCh38: Chr19:53892533	PRKCG	E237D	Spinocerebellar ataxia type 14	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89259439.	NM_002739.5(PRKCG):c.637C>A (p.Arg213=) GRCh37: Chr19:54395035 GRCh38: Chr19:53891781	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89259340.	NM_002739.5(PRKCG):c.520C>G (p.His174Asp) GRCh37: Chr19:54393262 GRCh38: Chr19:53890008	PRKCG	H174D	Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87135941.	NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val) GRCh37: Chr19:54403681 GRCh38: Chr19:53900427	PRKCG	A461V	not provided, Spinocerebellar ataxia type 14	Uncertain significance (Jan 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 80415642.	NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) GRCh37: Chr19:54392973 GRCh38: Chr19:53889719	PRKCG	G123R	not provided, Spinocerebellar ataxia type 14	Conflicting interpretations of pathogenicity (Jan 30, 2020)	criteria provided, conflicting interpretations
Select item 80415543.	NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) GRCh37: Chr19:54387442 GRCh38: Chr19:53884188	PRKCG	C77Y	not provided, Spinocerebellar ataxia type 14	Conflicting interpretations of pathogenicity (Jul 12, 2021)	criteria provided, conflicting interpretations
Select item 80415044.	NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) GRCh37: Chr19:54392985 GRCh38: Chr19:53889731	PRKCG	Q127K	Spinocerebellar ataxia type 14	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 61754245.	NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) GRCh37: Chr19:54409689 GRCh38: Chr19:53906435	PRKCG	P628L	Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 51830646.	NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) GRCh37: Chr19:54407979 GRCh38: Chr19:53904725	PRKCG	V583M	not provided, Spinocerebellar ataxia type 14	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 51830547.	NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) GRCh37: Chr19:54395791 GRCh38: Chr19:53892537	PRKCG	R239W	Spinocerebellar ataxia type 14	Uncertain significance (May 31, 2017)	criteria provided, single submitter
Select item 44812648.	NM_002739.5(PRKCG):c.1281+9G>C GRCh37: Chr19:54401891 GRCh38: Chr19:53898637	PRKCG		not specified, Spinocerebellar ataxia type 14	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 43642149.	NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) GRCh37: Chr19:54386443 GRCh38: Chr19:53883189	PRKCG	C66Y	Spinocerebellar ataxia type 14	Likely pathogenic (Mar 28, 2017)	criteria provided, single submitter
Select item 42650950.	NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) GRCh37: Chr19:54393217 GRCh38: Chr19:53889963	PRKCG	G159R	not provided, Spinocerebellar ataxia type 14	Uncertain significance (Sep 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33008451.	NM_002739.5(PRKCG):c.*670T>C GRCh37: Chr19:54410819 GRCh38: Chr19:53907565	PRKCG		Spinocerebellar ataxia type 14	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33008352.	NM_002739.5(PRKCG):c.*596C>T GRCh37: Chr19:54410745 GRCh38: Chr19:53907491	PRKCG		Spinocerebellar ataxia type 14	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33008253.	NM_002739.5(PRKCG):c.*550C>T GRCh37: Chr19:54410699 GRCh38: Chr19:53907445	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33008154.	NM_002739.5(PRKCG):c.*481T>C GRCh37: Chr19:54410630 GRCh38: Chr19:53907376	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33008055.	NM_002739.5(PRKCG):c.*428C>G GRCh37: Chr19:54410577 GRCh38: Chr19:53907323	PRKCG		Spinocerebellar ataxia type 14	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33007956.	NM_002739.5(PRKCG):c.*427T>C GRCh37: Chr19:54410576 GRCh38: Chr19:53907322	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33007857.	NM_002739.5(PRKCG):c.*360G>C GRCh37: Chr19:54410509 GRCh38: Chr19:53907255	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33007758.	NM_002739.5(PRKCG):c.*199C>T GRCh37: Chr19:54410348 GRCh38: Chr19:53907094	PRKCG		not provided, Spinocerebellar ataxia type 14	Benign/Likely benign (May 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33007559.	NM_002739.5(PRKCG):c.*48G>A GRCh37: Chr19:54410197 GRCh38: Chr19:53906943	PRKCG		Spinocerebellar ataxia type 14	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33007460.	NM_002739.5(PRKCG):c.*39C>T GRCh37: Chr19:54410188 GRCh38: Chr19:53906934	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33007361.	NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) GRCh37: Chr19:54410141 GRCh38: Chr19:53906887	PRKCG	V696I	Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33007262.	NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly) GRCh37: Chr19:54410114 GRCh38: Chr19:53906860	PRKCG	S687G	not provided, Spinocerebellar ataxia type 14	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 33007163.	NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) GRCh37: Chr19:54410017 GRCh38: Chr19:53906763	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33007064.	NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) GRCh37: Chr19:54410015 GRCh38: Chr19:53906761	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33006965.	NM_002739.5(PRKCG):c.1941C>T (p.Phe647=) GRCh37: Chr19:54409996 GRCh38: Chr19:53906742	PRKCG		not provided, Spinocerebellar ataxia type 14	Benign (Dec 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33006866.	NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) GRCh37: Chr19:54409642 GRCh38: Chr19:53906388	PRKCG		not specified, not provided, Spinocerebellar ataxia type 14	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33006767.	NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) GRCh37: Chr19:54407962 GRCh38: Chr19:53904708	PRKCG	S577L	Inborn genetic diseases, Spinocerebellar ataxia type 14	Conflicting interpretations of pathogenicity (Aug 8, 2022)	criteria provided, conflicting interpretations
Select item 33006668.	NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) GRCh37: Chr19:54407954 GRCh38: Chr19:53904700	PRKCG		not provided, Spinocerebellar ataxia type 14	Benign/Likely benign (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33006569.	NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) GRCh37: Chr19:54403703 GRCh38: Chr19:53900449	PRKCG		not specified, not provided, Spinocerebellar ataxia type 14	Benign (May 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33006470.	NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys) GRCh37: Chr19:54395788 GRCh38: Chr19:53892534	PRKCG	R238C	Spinocerebellar ataxia type 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33006371.	NM_002739.5(PRKCG):c.686+14G>T GRCh37: Chr19:54395098 GRCh38: Chr19:53891844	PRKCG		not provided, Spinocerebellar ataxia type 14	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33006272.	NM_002739.5(PRKCG):c.642G>A (p.Thr214=) GRCh37: Chr19:54395040 GRCh38: Chr19:53891786	PRKCG		not provided, Spinocerebellar ataxia type 14	Benign (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 33006173.	NM_002739.5(PRKCG):c.529+11G>T GRCh37: Chr19:54393282 GRCh38: Chr19:53890028	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33006074.	NM_002739.5(PRKCG):c.441C>T (p.Pro147=) GRCh37: Chr19:54393183 GRCh38: Chr19:53889929	PRKCG		not provided, Spinocerebellar ataxia type 14	Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33005975.	NM_002739.5(PRKCG):c.286-12C>A GRCh37: Chr19:54392880 GRCh38: Chr19:53889626	PRKCG		Spinocerebellar ataxia type 14	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33005876.	NM_002739.5(PRKCG):c.285C>T (p.Asp95=) GRCh37: Chr19:54387497 GRCh38: Chr19:53884243	PRKCG		not specified, not provided, Spinocerebellar ataxia type 14	Benign/Likely benign (May 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33005777.	NM_002739.5(PRKCG):c.207C>T (p.Cys69=) GRCh37: Chr19:54387419 GRCh38: Chr19:53884165	PRKCG		not provided, Spinocerebellar ataxia type 14	Benign (May 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33005578.	NM_002739.5(PRKCG):c.-233C>T GRCh37: Chr19:54385516 GRCh38: Chr19:53882262	PRKCG		Spinocerebellar ataxia type 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 21195679.	NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) GRCh37: Chr19:54385902 GRCh38: Chr19:53882648	PRKCG	C52S	Spinocerebellar ataxia type 14	Likely pathogenic (Mar 30, 2015)	criteria provided, single submitter
Select item 19437880.	NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) GRCh37: Chr19:54403925 GRCh38: Chr19:53900671	PRKCG		not specified, not provided, Spinocerebellar ataxia type 14	Benign (May 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13003781.	NM_002739.5(PRKCG):c.72C>T (p.Ala24=) GRCh37: Chr19:54385820 GRCh38: Chr19:53882566	PRKCG		not specified, not provided, Spinocerebellar ataxia type 14	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13003682.	NM_002739.5(PRKCG):c.567T>C (p.Asn189=) GRCh37: Chr19:54394965 GRCh38: Chr19:53891711	PRKCG		not provided, Spinocerebellar ataxia type 14	Benign (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4217483.	NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly) GRCh37: Chr19:54385824 GRCh38: Chr19:53882570	PRKCG	R26G	Spinocerebellar ataxia type 14	not provided	no assertion provided
Select item 4217184.	NM_002739.5(PRKCG):c.417C>A (p.His139Gln) GRCh37: Chr19:54393159 GRCh38: Chr19:53889905	PRKCG	H139Q	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4217085.	NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe) GRCh37: Chr19:54393191-54393192 GRCh38: Chr19:53889937-53889938	PRKCG	C150F	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4216986.	NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) GRCh37: Chr19:54393155 GRCh38: Chr19:53889901	PRKCG	V138E	not provided, Spinocerebellar ataxia type 14	Pathogenic (Jan 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4216787.	NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) GRCh37: Chr19:54392998 GRCh38: Chr19:53889744	PRKCG	C131Y	not provided	Uncertain significance (Nov 17, 2020)	criteria provided, single submitter
Select item 4216688.	NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg) GRCh37: Chr19:54392997 GRCh38: Chr19:53889743	PRKCG	C131R	Spinocerebellar ataxia type 14	not provided	no assertion provided
Select item 4216589.	NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu) GRCh37: Chr19:54392974 GRCh38: Chr19:53889720	PRKCG	G123E	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4216490.	NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg) GRCh37: Chr19:54392973 GRCh38: Chr19:53889719	PRKCG	G123R	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4216391.	NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) GRCh37: Chr19:54392962 GRCh38: Chr19:53889708	PRKCG	S119F	not provided	Likely pathogenic (Jun 19, 2018)	criteria provided, single submitter
Select item 4216192.	NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr) GRCh37: Chr19:54392947 GRCh38: Chr19:53889693	PRKCG	C114Y	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4215793.	NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del) GRCh37: Chr19:54392902-54392907 GRCh38: Chr19:53889648-53889653	PRKCG		Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4214894.	NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) GRCh37: Chr19:54387441 GRCh38: Chr19:53884187	PRKCG	C77S	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4214595.	NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) GRCh37: Chr19:54410130 GRCh38: Chr19:53906876	PRKCG	V692G	not specified, not provided	Conflicting interpretations of pathogenicity (Oct 10, 2017)	criteria provided, conflicting interpretations
Select item 4214096.	NM_002739.5(PRKCG):c.188G>T (p.Gly63Val) GRCh37: Chr19:54386434 GRCh38: Chr19:53883180	PRKCG	G63V	not provided	Likely pathogenic (Dec 9, 2019)	criteria provided, single submitter
Select item 4213297.	NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro) GRCh37: Chr19:54385870 GRCh38: Chr19:53882616	PRKCG	R41P	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 4212998.	NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser) GRCh37: Chr19:54401351 GRCh38: Chr19:53898097	PRKCG	G360S	Spinocerebellar ataxia type 14	Pathogenic (Apr 18, 2013)	no assertion criteria provided
Select item 2985899.	NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr) GRCh37: Chr19:54403866 GRCh38: Chr19:53900612	PRKCG	D480Y	Spinocerebellar ataxia type 14	Pathogenic (Sep 21, 2011)	no assertion criteria provided
Select item 29857100.	NM_002739.5(PRKCG):c.530_919del	PRKCG		Spinocerebellar ataxia type 14	Pathogenic (Feb 13, 2020)	no assertion criteria provided

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