ClinVar for MedGen (Select 1627627) - ClinVar

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Items: 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25035031.	NM_001199198.3(TBC1D23):c.458T>C (p.Met153Thr) GRCh37: Chr3:100002637 GRCh38: Chr3:100283793	TBC1D23	M153T	Pontocerebellar hypoplasia, type 11	Uncertain significance (May 27, 2023)	criteria provided, single submitter
Select item 25030492.	NM_001199198.3(TBC1D23):c.1018del (p.Val340fs) GRCh37: Chr3:100018101 GRCh38: Chr3:100299257	TBC1D23	V340fs	Pontocerebellar hypoplasia, type 11	Pathogenic	criteria provided, single submitter
Select item 24369593.	NM_001199198.3(TBC1D23):c.1505G>A (p.Arg502Lys) GRCh37: Chr3:100029338 GRCh38: Chr3:100310494	TBC1D23	R502K	Pontocerebellar hypoplasia, type 11	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 24369584.	NM_001199198.3(TBC1D23):c.53+100G>A GRCh37: Chr3:99980015 GRCh38: Chr3:100261171	TBC1D23		Pontocerebellar hypoplasia, type 11	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 13349285.	NM_001199198.3(TBC1D23):c.1554-49dup GRCh37: Chr3:100030627-100030628 GRCh38: Chr3:100311783-100311784	TBC1D23		Pontocerebellar hypoplasia, type 11	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 13251716.	NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs) GRCh37: Chr3:100013941-100013942 GRCh38: Chr3:100295097-100295098	TBC1D23	F205fs	Pontocerebellar hypoplasia, type 11	Likely pathogenic (Jan 19, 2021)	criteria provided, single submitter
Select item 13236767.	NM_001199198.3(TBC1D23):c.1092+2T>A GRCh37: Chr3:100018177 GRCh38: Chr3:100299333	TBC1D23		Pontocerebellar hypoplasia, type 11	Pathogenic (Mar 5, 2020)	criteria provided, single submitter
Select item 13236758.	NM_001199198.3(TBC1D23):c.630del (p.Thr211fs) GRCh37: Chr3:100013959 GRCh38: Chr3:100295115	TBC1D23	T211fs	Pontocerebellar hypoplasia, type 11	Likely pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 12518379.	NM_001199198.3(TBC1D23):c.876+27G>T GRCh37: Chr3:100015146 GRCh38: Chr3:100296302	TBC1D23		Pontocerebellar hypoplasia, type 11, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106549610.	NM_001199198.3(TBC1D23):c.1004G>T (p.Gly335Val) GRCh37: Chr3:100018087 GRCh38: Chr3:100299243	TBC1D23	G335V	Pontocerebellar hypoplasia, type 11	Uncertain significance (Jul 11, 2019)	criteria provided, single submitter
Select item 103192611.	NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser) GRCh37: Chr3:100009483 GRCh38: Chr3:100290639	TBC1D23	P180S	Pontocerebellar hypoplasia, type 11	Uncertain significance (Oct 25, 2018)	criteria provided, single submitter
Select item 103192512.	NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val) GRCh37: Chr3:100039680 GRCh38: Chr3:100320836	TBC1D23	G613V, G628V	Pontocerebellar hypoplasia, type 11	Uncertain significance (Aug 30, 2018)	criteria provided, single submitter
Select item 102924413.	NM_001199198.3(TBC1D23):c.170C>T (p.Ala57Val) GRCh37: Chr3:100000590 GRCh38: Chr3:100281746	TBC1D23	A57V	Pontocerebellar hypoplasia, type 11	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 102924314.	NM_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn) GRCh37: Chr3:100025301 GRCh38: Chr3:100306457	TBC1D23	D443N	Pontocerebellar hypoplasia, type 11	Uncertain significance (Jan 24, 2019)	criteria provided, single submitter
Select item 93094315.	NM_001199198.3(TBC1D23):c.1687+1G>C GRCh37: Chr3:100035032 GRCh38: Chr3:100316188	TBC1D23		Pontocerebellar hypoplasia, type 11	Pathogenic (Nov 21, 2018)	criteria provided, single submitter
Select item 80199116.	NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) GRCh37: Chr3:99998531 GRCh38: Chr3:100279687	TBC1D23	C31S	Pontocerebellar hypoplasia, type 11, not specified, not provided	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44076417.	NM_001199198.3(TBC1D23):c.1687+1G>A GRCh37: Chr3:100035032 GRCh38: Chr3:100316188	TBC1D23		Pontocerebellar hypoplasia, type 11	Pathogenic (Sep 29, 2017)	no assertion criteria provided
Select item 44076318.	NM_001199198.3(TBC1D23):c.1687+2T>A GRCh37: Chr3:100035033 GRCh38: Chr3:100316189	TBC1D23		Pontocerebellar hypoplasia, type 11	Likely pathogenic (May 27, 2020)	criteria provided, single submitter
Select item 39755519.	NM_001199198.3(TBC1D23):c.1687+2T>G GRCh37: Chr3:100035033 GRCh38: Chr3:100316189	TBC1D23		Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia, type 11	Pathogenic (Sep 29, 2017)	no assertion criteria provided
Select item 39755420.	NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) GRCh37: Chr3:100029359 GRCh38: Chr3:100310515	TBC1D23	I509fs	Pontocerebellar hypoplasia, type 11, Pontoneocerebellar hypoplasia	Pathogenic (Sep 29, 2017)	no assertion criteria provided
Select item 39755321.	NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs) GRCh37: Chr3:100029306-100029307 GRCh38: Chr3:100310462-100310463	TBC1D23	V492fs	Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia, type 11	Pathogenic (Sep 29, 2017)	no assertion criteria provided

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Items: 21