ClinVar for MedGen (Select 767140) - ClinVar

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Items: 30

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25045931.	NM_025077.4(TOE1):c.1476C>G (p.Phe492Leu) GRCh37: Chr1:45809317 GRCh38: Chr1:45343645	TOE1	F492L	Pontocerebellar hypoplasia type 7	Uncertain significance (May 27, 2023)	criteria provided, single submitter
Select item 24371762.	NM_025077.4(TOE1):c.20A>G (p.Asp7Gly) GRCh37: Chr1:45805944 GRCh38: Chr1:45340272	MUTYH, TOE1	D7G	Pontocerebellar hypoplasia type 7	Uncertain significance (Oct 17, 2021)	criteria provided, single submitter
Select item 16875833.	NM_025077.4(TOE1):c.1469G>A (p.Ser490Asn) GRCh37: Chr1:45809310 GRCh38: Chr1:45343638	TOE1	S490N	Pontocerebellar hypoplasia type 7	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 16873854.	NM_025077.4(TOE1):c.1062del (p.Thr355fs) GRCh37: Chr1:45808900 GRCh38: Chr1:45343228	TOE1	T355fs	Pontocerebellar hypoplasia type 7	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 16837225.	NM_025077.4(TOE1):c.911C>T (p.Ser304Leu) GRCh37: Chr1:45808673 GRCh38: Chr1:45343001	TOE1	S304L	Pontocerebellar hypoplasia type 7	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 16764606.	NM_025077.4(TOE1):c.544C>T (p.Arg182Ter) GRCh37: Chr1:45808107 GRCh38: Chr1:45342435	TOE1	R182*	Pontocerebellar hypoplasia type 7	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 14743617.	NM_025077.4(TOE1):c.940C>G (p.Gln314Glu) GRCh37: Chr1:45808781 GRCh38: Chr1:45343109	TOE1	Q314E	not provided, Pontocerebellar hypoplasia type 7	Uncertain significance (Oct 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13252148.	NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter) GRCh37: Chr1:45808859 GRCh38: Chr1:45343187	TOE1	R340*	Pontocerebellar hypoplasia type 7	Likely pathogenic (Aug 12, 2019)	criteria provided, single submitter
Select item 12799289.	NM_025077.4(TOE1):c.237-2A>G GRCh37: Chr1:45807143 GRCh38: Chr1:45341471	TOE1		Pontocerebellar hypoplasia type 7	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 127573810.	NM_025077.4(TOE1):c.551G>T (p.Arg184Leu) GRCh37: Chr1:45808114 GRCh38: Chr1:45342442	TOE1	R184L	Pontocerebellar hypoplasia type 7	Likely pathogenic (Sep 19, 2021)	criteria provided, single submitter
Select item 102886811.	NM_025077.4(TOE1):c.1439G>A (p.Gly480Asp) GRCh37: Chr1:45809280 GRCh38: Chr1:45343608	TOE1	G480D	Pontocerebellar hypoplasia type 7, not provided	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102886712.	NM_025077.4(TOE1):c.1159G>A (p.Asp387Asn) GRCh37: Chr1:45809000 GRCh38: Chr1:45343328	TOE1	D387N	Pontocerebellar hypoplasia type 7, not provided	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93076413.	NM_025077.4(TOE1):c.913-2A>G GRCh37: Chr1:45808752 GRCh38: Chr1:45343080	TOE1		Pontocerebellar hypoplasia type 7	Likely pathogenic (Aug 21, 2019)	criteria provided, single submitter
Select item 78000114.	NM_025077.4(TOE1):c.1176G>A (p.Leu392=) GRCh37: Chr1:45809017 GRCh38: Chr1:45343345	MUTYH, TOE1		Pontocerebellar hypoplasia type 7, not specified, not provided	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 77790815.	NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu) GRCh37: Chr1:45809220 GRCh38: Chr1:45343548	TOE1, MUTYH	P460L	not provided, Pontocerebellar hypoplasia type 7, not specified	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69034016.	NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe) GRCh37: Chr1:45809328 GRCh38: Chr1:45343656	TOE1	S496F	Pontocerebellar hypoplasia type 7	Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 69033917.	NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter) GRCh37: Chr1:45808256 GRCh38: Chr1:45342584	TOE1	Y231*	Pontocerebellar hypoplasia type 7	Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 69033818.	NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) GRCh37: Chr1:45808519 GRCh38: Chr1:45342847	TOE1	R253W	Inborn genetic diseases, not provided	Uncertain significance (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 69033719.	NM_025077.4(TOE1):c.716T>C (p.Phe239Ser) GRCh37: Chr1:45808279 GRCh38: Chr1:45342607	TOE1	F239S	Pontocerebellar hypoplasia type 7	Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 69033620.	NM_025077.4(TOE1):c.219G>C (p.Arg73Ser) GRCh37: Chr1:45806998 GRCh38: Chr1:45341326	TOE1	R73S	Pontocerebellar hypoplasia type 7	Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 69033521.	NM_025077.4(TOE1):c.955C>T (p.His319Tyr) GRCh37: Chr1:45808796 GRCh38: Chr1:45343124	TOE1	H319Y	Pontocerebellar hypoplasia type 7	Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 69033422.	NM_025077.4(TOE1):c.957C>T (p.His319=) GRCh37: Chr1:45808798 GRCh38: Chr1:45343126	TOE1		Pontocerebellar hypoplasia type 7	Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 69033323.	NM_025077.4(TOE1):c.937C>G (p.Pro313Ala) GRCh37: Chr1:45808778 GRCh38: Chr1:45343106	TOE1	P313A	Pontocerebellar hypoplasia type 7	Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 52411724.	NM_025077.4(TOE1):c.940_941del (p.Gln314fs) GRCh37: Chr1:45808779-45808780 GRCh38: Chr1:45343107-45343108	TOE1	Q314fs	not provided	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 41775125.	NM_025077.4(TOE1):c.957C>A (p.His319Gln) GRCh37: Chr1:45808798 GRCh38: Chr1:45343126	TOE1	H319Q	Pontocerebellar hypoplasia type 7	Pathogenic (Apr 15, 2017)	no assertion criteria provided
Select item 41774926.	NM_025077.4(TOE1):c.518T>G (p.Val173Gly) GRCh37: Chr1:45808081 GRCh38: Chr1:45342409	TOE1	V173G	Pontocerebellar hypoplasia type 7	Pathogenic/Likely pathogenic (May 6, 2021)	no assertion criteria provided
Select item 41774827.	NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) GRCh37: Chr1:45807215 GRCh38: Chr1:45341543	TOE1	A103T	Pontocerebellar hypoplasia type 7	Pathogenic/Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 41774728.	NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) GRCh37: Chr1:45807730 GRCh38: Chr1:45342058	TOE1	F148Y	Pontocerebellar hypoplasia type 7	Pathogenic/Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 41774629.	NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) GRCh37: Chr1:45808221 GRCh38: Chr1:45342549	TOE1	E220K	Pontocerebellar hypoplasia type 7	Pathogenic/Likely pathogenic (Jul 16, 2017)	no assertion criteria provided
Select item 13831030.	NM_025077.4(TOE1):c.-45G>A GRCh37: Chr1:45805880 GRCh38: Chr1:45340208	MUTYH, TOE1		Pontocerebellar hypoplasia type 7, Hereditary cancer-predisposing syndrome, not specified, Familial adenomatous polyposis 2	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations

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Items: 30