ClinVar for MedGen (Select 376379) - ClinVar

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Items: 30

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17091711.	NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly) GRCh37: Chr17:73512945 GRCh38: Chr17:75516864	TSEN54	R59G	not provided, Pontocerebellar hypoplasia type 2A	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14911652.	NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp) GRCh37: Chr17:73518348 GRCh38: Chr17:75522267	TSEN54	R396W	Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, not provided	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13856453.	NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys) GRCh37: Chr17:73518108 GRCh38: Chr17:75522027	TSEN54	R316C	Inborn genetic diseases, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, not provided	Uncertain significance (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12198614.	NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln) GRCh37: Chr17:73518298 GRCh38: Chr17:75522217	TSEN54	R379Q	Inborn genetic diseases, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 12107185.	NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) GRCh37: Chr17:73519416 GRCh38: Chr17:75523335	TSEN54	R438Q	Inborn genetic diseases, not specified, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 4, not provided	Uncertain significance (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10337006.	NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser) GRCh37: Chr17:73517970 GRCh38: Chr17:75521889	TSEN54	P270S	Pontocerebellar hypoplasia type 2A	Uncertain significance (Aug 9, 2018)	criteria provided, single submitter
Select item 10336997.	NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu) GRCh37: Chr17:73517799 GRCh38: Chr17:75521718	TSEN54	K213E	Pontocerebellar hypoplasia type 2A, Inborn genetic diseases	Uncertain significance (Jul 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10336988.	NM_207346.3(TSEN54):c.167G>A (p.Arg56His) GRCh37: Chr17:73512937 GRCh38: Chr17:75516856	TSEN54	R56H	Pontocerebellar hypoplasia type 2A	Uncertain significance (Sep 28, 2018)	criteria provided, single submitter
Select item 10293809.	NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro) GRCh37: Chr17:73519383 GRCh38: Chr17:75523302	TSEN54	L427P	Pontocerebellar hypoplasia type 2A	Uncertain significance (Apr 11, 2019)	criteria provided, single submitter
Select item 63816110.	NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) GRCh37: Chr17:73520447 GRCh38: Chr17:75524366	TSEN54	F512S	Pontocerebellar hypoplasia type 2A	Likely pathogenic (Jun 24, 2019)	criteria provided, single submitter
Select item 62018811.	NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) GRCh37: Chr17:73518201 GRCh38: Chr17:75522120	TSEN54	K347*	not provided, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5	Pathogenic/Likely pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58684612.	NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) GRCh37: Chr17:73518201-73518203 GRCh38: Chr17:75522120-75522122	TSEN54	K347Y	Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, not provided	Uncertain significance (Oct 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56113813.	NM_207346.3(TSEN54):c.940del (p.Leu314fs) GRCh37: Chr17:73518100 GRCh38: Chr17:75522019	TSEN54	L314fs	Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 49524014.	NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) GRCh37: Chr17:73513639 GRCh38: Chr17:75517558	TSEN54	G124V	not provided, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4	Conflicting interpretations of pathogenicity (Jan 4, 2023)	criteria provided, conflicting interpretations
Select item 28754915.	NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn) GRCh37: Chr17:73518197 GRCh38: Chr17:75522116	TSEN54	K345N	Pontocerebellar hypoplasia type 2A, not provided	Uncertain significance (Nov 8, 2019)	criteria provided, multiple submitters, no conflicts
Select item 26528216.	NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) GRCh37: Chr17:73517832-73517833 GRCh38: Chr17:75521751-75521752	TSEN54	K224fs	Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 4, not provided	Pathogenic (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21245517.	NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) GRCh37: Chr17:73512853 GRCh38: Chr17:75516772	TSEN54	S28L	Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, Inborn genetic diseases, Pontoneocerebellar hypoplasia, not provided, not specified	Conflicting interpretations of pathogenicity (Apr 20, 2023)	criteria provided, conflicting interpretations
Select item 21245418.	NM_207346.3(TSEN54):c.823del (p.Val275fs) GRCh37: Chr17:73517981 GRCh38: Chr17:75521900	TSEN54	V275fs	Pontocerebellar hypoplasia type 2A	Pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 21245219.	NM_207346.3(TSEN54):c.1397dup (p.Gly467fs) GRCh37: Chr17:73519824-73519825 GRCh38: Chr17:75523743-75523744	TSEN54	G467fs	Pontocerebellar hypoplasia type 2A	Pathogenic (Aug 6, 2015)	criteria provided, single submitter
Select item 21245120.	NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter) GRCh37: Chr17:73519815-73519816 GRCh38: Chr17:75523734-75523735	TSEN54	K463*	Pontocerebellar hypoplasia type 2A	Pathogenic (Apr 10, 2015)	criteria provided, single submitter
Select item 19863721.	NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) GRCh37: Chr17:73517590 GRCh38: Chr17:75521509	TSEN54	R208W	not specified, not provided, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5	Uncertain significance (Feb 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16013422.	NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) GRCh37: Chr17:73513677 GRCh38: Chr17:75517596	TSEN54	I137L	not specified, Pontocerebellar hypoplasia type 5, Pontoneocerebellar hypoplasia, not provided, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16013323.	NM_207346.3(TSEN54):c.285+32C>A GRCh37: Chr17:73513185 GRCh38: Chr17:75517104	TSEN54		Pontocerebellar hypoplasia type 5, not provided, not specified, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16012724.	NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) GRCh37: Chr17:73519413 GRCh38: Chr17:75523332	TSEN54	A437V	Pontocerebellar hypoplasia type 5, Pontoneocerebellar hypoplasia, not specified, not provided, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16012325.	NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) GRCh37: Chr17:73518203 GRCh38: Chr17:75522122	TSEN54	K347N	Pontoneocerebellar hypoplasia, not specified, Pontocerebellar hypoplasia type 5, not provided, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13775926.	NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) GRCh37: Chr17:73520359 GRCh38: Chr17:75524278	TSEN54	P483A	Pontoneocerebellar hypoplasia, not specified, Pontocerebellar hypoplasia type 5, not provided, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9667327.	NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) GRCh37: Chr17:73512653 GRCh38: Chr17:75516572	LOC112533671, TSEN54	E4D	Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 5, not specified, not provided, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9667028.	NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) GRCh37: Chr17:73518284 GRCh38: Chr17:75522203	TSEN54		Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 5, not specified, not provided, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212129.	TSEN54:c.[277T>C;919G>T] GRCh37: Chr17:73518081 Chr17:73513145 GRCh38: Chr17:75522000 Chr17:75517064	TSEN54, TSEN54	A307S, S93P	Pontocerebellar hypoplasia type 2A	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 212030.	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) GRCh37: Chr17:73518081 GRCh38: Chr17:75522000	TSEN54	A307S	Inborn genetic diseases, not provided, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 5, Congenital cerebellar hypoplasia, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4, Olivopontocerebellar hypoplasia, TSEN54 Pontocerebellar HypoplasiaPontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 4, Methylmalonic aciduria and homocystinuria type cblD, Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 4, Intellectual disability, Microcephaly, Global developmental delay, Amblyopia, Hypertonia, Global developmental delay, ...see more	Pathogenic/Likely pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 30