ClinVar for MedGen (Select 1613511) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18062431.	NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro) GRCh37: Chr20:45315538 GRCh38: Chr20:46686899	TP53RK	A206P	Galloway-Mowat syndrome 4	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 18048942.	NM_033550.4(TP53RK):c.185G>A (p.Arg62His) GRCh37: Chr20:45317869 GRCh38: Chr20:46689230	TP53RK	R62H	Galloway-Mowat syndrome 4	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 16764413.	NM_033550.4(TP53RK):c.309dup (p.Val104fs)	TP53RK	V104fs	not provided, Galloway-Mowat syndrome 4	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 12103334.	NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln) GRCh37: Chr20:45317861 GRCh38: Chr20:46689222	TP53RK	K65Q	Galloway-Mowat syndrome 4	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 10323435.	NM_033550.4(TP53RK):c.544A>G (p.Ile182Val) GRCh37: Chr20:45315610 GRCh38: Chr20:46686971	TP53RK	I182V	Galloway-Mowat syndrome 4	Uncertain significance (Dec 23, 2018)	criteria provided, single submitter
Select item 10323416.	NM_033550.4(TP53RK):c.337A>G (p.Met113Val) GRCh37: Chr20:45315817 GRCh38: Chr20:46687178	TP53RK	M113V	Galloway-Mowat syndrome 4	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10290397.	NM_033550.4(TP53RK):c.598C>G (p.Leu200Val) GRCh37: Chr20:45315556 GRCh38: Chr20:46686917	TP53RK	L200V	Galloway-Mowat syndrome 4	Uncertain significance (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8135798.	NM_033550.4(TP53RK):c.15_16dup (p.Ala6fs) GRCh37: Chr20:45318037-45318038 GRCh38: Chr20:46689398-46689399	LOC130065998, TP53RK, TP53RK-DT	A6fs	Galloway-Mowat syndrome 4	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 8127879.	NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) GRCh37: Chr20:45315427 GRCh38: Chr20:46686788	TP53RK	R243C	not provided, Galloway-Mowat syndrome 4	Conflicting interpretations of pathogenicity (Feb 22, 2023)	criteria provided, conflicting interpretations
Select item 78307610.	NM_033550.4(TP53RK):c.519C>G (p.Pro173=) GRCh37: Chr20:45315635 GRCh38: Chr20:46686996	TP53RK		Galloway-Mowat syndrome 4, not provided	Likely benign (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72602711.	NM_033550.4(TP53RK):c.433A>G (p.Thr145Ala) GRCh37: Chr20:45315721 GRCh38: Chr20:46687082	TP53RK	T145A	not provided, Galloway-Mowat syndrome 4	Benign/Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44488312.	NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu) GRCh37: Chr20:45315426 GRCh38: Chr20:46686787	TP53RK	R243L	Galloway-Mowat syndrome 4	Pathogenic (Oct 27, 2017)	no assertion criteria provided
Select item 44488213.	NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp) GRCh37: Chr20:45317929 GRCh38: Chr20:46689290	TP53RK	G42D	Galloway-Mowat syndrome 4	Pathogenic (Oct 27, 2017)	no assertion criteria provided
Select item 44488114.	NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg) GRCh37: Chr20:45317812 GRCh38: Chr20:46689173	TP53RK	T81R	Galloway-Mowat syndrome 4	Pathogenic (Oct 27, 2017)	no assertion criteria provided
Select item 44488015.	NM_033550.4(TP53RK):c.179del (p.Lys60fs) GRCh37: Chr20:45317875 GRCh38: Chr20:46689236	TP53RK	K60fs	Galloway-Mowat syndrome 4	Pathogenic (Oct 27, 2017)	no assertion criteria provided