ClinVar for MedGen (Select 383722) - ClinVar

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Items: 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24337451.	NM_000900.5(MGP):c.62A>T (p.Glu21Val) GRCh37: Chr12:15037179 GRCh38: Chr12:14884245	MGP	E21V, E46V	Keutel syndrome	Uncertain significance (Jul 11, 2019)	criteria provided, single submitter
Select item 8833982.	NM_000900.5(MGP):c.*531T>C GRCh37: Chr12:15034542 GRCh38: Chr12:14881608	LOC126861465, MGP		Keutel syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8833973.	NM_000900.5(MGP):c.*720C>A GRCh37: Chr12:15034353 GRCh38: Chr12:14881419	LOC126861465, MGP		Keutel syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8826684.	NM_000900.5(MGP):c.77T>C (p.Met26Thr) GRCh37: Chr12:15037164 GRCh38: Chr12:14884230	MGP	M26T, M51T	not provided, Keutel syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8810485.	NM_000900.5(MGP):c.*176C>G GRCh37: Chr12:15034897 GRCh38: Chr12:14881963	MGP		Keutel syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8810476.	NM_000900.5(MGP):c.*206A>G GRCh37: Chr12:15034867 GRCh38: Chr12:14881933	LOC126861465, MGP		not provided, Keutel syndrome	Benign/Likely benign (May 20, 2019)	criteria provided, multiple submitters, no conflicts
Select item 7286827.	NM_000900.5(MGP):c.198C>T (p.His66=) GRCh37: Chr12:15035187 GRCh38: Chr12:14882253	MGP		not provided, Keutel syndrome	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 3077788.	NM_000900.4(MGP):c.-117C>T GRCh37: Chr12:15038842 GRCh38: Chr12:14885908	MGP		Keutel syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3077779.	NM_000900.4(MGP):c.-66C>A GRCh37: Chr12:15038791 GRCh38: Chr12:14885857	MGP		Keutel syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30777610.	NM_000900.5(MGP):c.-63G>A GRCh37: Chr12:15038788 GRCh38: Chr12:14885854	MGP		not provided, Keutel syndrome	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30777511.	NM_000900.5(MGP):c.46G>A (p.Val16Ile) GRCh37: Chr12:15038680 GRCh38: Chr12:14885746	MGP	V16I	Keutel syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30777412.	NM_000900.5(MGP):c.62-9del GRCh37: Chr12:15037188 GRCh38: Chr12:14884254	MGP		not provided, Keutel syndrome	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30777313.	NM_000900.5(MGP):c.62-18dup GRCh37: Chr12:15037187-15037188 GRCh38: Chr12:14884253-14884254	MGP		not provided, Keutel syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30777214.	NM_000900.5(MGP):c.84T>C (p.Ser28=) GRCh37: Chr12:15037157 GRCh38: Chr12:14884223	MGP		not provided, Keutel syndrome	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 30777115.	NM_000900.5(MGP):c.207T>C (p.Asn69=) GRCh37: Chr12:15035178 GRCh38: Chr12:14882244	MGP		not provided, Keutel syndrome	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30777016.	NM_000900.5(MGP):c.234T>C (p.Leu78=) GRCh37: Chr12:15035151 GRCh38: Chr12:14882217	MGP		not provided, Keutel syndrome	Conflicting interpretations of pathogenicity (Oct 9, 2022)	criteria provided, conflicting interpretations
Select item 30776917.	NM_000900.5(MGP):c.237C>T (p.Cys79=) GRCh37: Chr12:15035148 GRCh38: Chr12:14882214	MGP		Keutel syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30776818.	NM_000900.5(MGP):c.*27T>G GRCh37: Chr12:15035046 GRCh38: Chr12:14882112	MGP		Keutel syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30776719.	NM_000900.5(MGP):c.*140T>C GRCh37: Chr12:15034933 GRCh38: Chr12:14881999	MGP		Keutel syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30776620.	NM_000900.5(MGP):c.*251T>C GRCh37: Chr12:15034822 GRCh38: Chr12:14881888	LOC126861465, MGP		Keutel syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30776521.	NM_000900.5(MGP):c.*315dup GRCh37: Chr12:15034757-15034758 GRCh38: Chr12:14881823-14881824	LOC126861465, MGP		Keutel syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30776422.	NM_000900.5(MGP):c.*339T>C GRCh37: Chr12:15034734 GRCh38: Chr12:14881800	LOC126861465, MGP		Keutel syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30776323.	NM_000900.5(MGP):c.*343G>A GRCh37: Chr12:15034730 GRCh38: Chr12:14881796	LOC126861465, MGP		Keutel syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30776224.	NM_000900.5(MGP):c.*455del GRCh37: Chr12:15034618 GRCh38: Chr12:14881684	LOC126861465, MGP		Keutel syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30776125.	NM_000900.5(MGP):c.*476T>C GRCh37: Chr12:15034597 GRCh38: Chr12:14881663	LOC126861465, MGP		Keutel syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30776026.	NM_000900.5(MGP):c.*538C>G GRCh37: Chr12:15034535 GRCh38: Chr12:14881601	LOC126861465, MGP		Keutel syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30775927.	NM_000900.5(MGP):c.*552A>T GRCh37: Chr12:15034521 GRCh38: Chr12:14881587	LOC126861465, MGP		Keutel syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30775828.	NM_000900.5(MGP):c.*604A>G GRCh37: Chr12:15034469 GRCh38: Chr12:14881535	LOC126861465, MGP		Keutel syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30775729.	NM_000900.5(MGP):c.*615A>G GRCh37: Chr12:15034458 GRCh38: Chr12:14881524	LOC126861465, MGP		Keutel syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30775630.	NM_000900.5(MGP):c.*755G>T GRCh37: Chr12:15034318 GRCh38: Chr12:14881384	LOC126861465, MGP		Keutel syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 28629231.	NM_000900.5(MGP):c.157A>G (p.Lys53Glu) GRCh37: Chr12:15035919 GRCh38: Chr12:14882985	MGP	K53E, K78E	not provided, not specified, Keutel syndrome	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28436932.	NM_000900.5(MGP):c.304A>G (p.Thr102Ala) GRCh37: Chr12:15035081 GRCh38: Chr12:14882147	MGP	T127A, T102A	not specified, not provided, Keutel syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28167433.	NM_000900.5(MGP):c.115A>C (p.Asn39His) GRCh37: Chr12:15035961 GRCh38: Chr12:14883027	MGP	N39H, N64H	not provided, not specified, Keutel syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19312734.	NM_000900.5(MGP):c.23C>T (p.Ala8Val) GRCh37: Chr12:15038703 GRCh38: Chr12:14885769	MGP	A8V	not specified, not provided, Keutel syndrome	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1434435.	NM_000900.5(MGP):c.94+1G>A GRCh37: Chr12:15037146 GRCh38: Chr12:14884212	MGP		not provided, Keutel syndrome	Pathogenic/Likely pathogenic (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1434336.	NM_000900.5(MGP):c.87T>A (p.Tyr29Ter) GRCh37: Chr12:15037154 GRCh38: Chr12:14884220	MGP	Y29, Y54	Keutel syndrome	Pathogenic (Jan 1, 1999)	no assertion criteria provided
Select item 1434237.	NM_000900.5(MGP):c.62-2A>G GRCh37: Chr12:15037181 GRCh38: Chr12:14884247	MGP		Keutel syndrome	Pathogenic (Jan 1, 1999)	no assertion criteria provided
Select item 1434138.	NM_000900.5(MGP):c.43del (p.Ala14_Val15insTer) GRCh37: Chr12:15038683 GRCh38: Chr12:14885749	MGP		Keutel syndrome	Pathogenic (Jan 1, 1999)	no assertion criteria provided

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Items: 38