ClinVar for MedGen (Select 923028) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25723691.	NM_001797.4(CDH11):c.778G>C (p.Asp260His) GRCh37: Chr16:65025704 GRCh38: Chr16:64991801	CDH11	D134H, D260H	Elsahy-Waters syndrome	Likely pathogenic (Apr 25, 2023)	criteria provided, single submitter
Select item 24319332.	NM_001797.4(CDH11):c.2002G>A (p.Gly668Ser) GRCh37: Chr16:64981895 GRCh38: Chr16:64947992	CDH11	G542S, G668S	Elsahy-Waters syndrome	Uncertain significance (Dec 30, 2022)	criteria provided, single submitter
Select item 11925843.	NM_001797.4(CDH11):c.644-11T>C GRCh37: Chr16:65025849 GRCh38: Chr16:64991946	CDH11		Elsahy-Waters syndrome, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11925834.	NM_001797.4(CDH11):c.764C>T (p.Thr255Met) GRCh37: Chr16:65025718 GRCh38: Chr16:64991815	CDH11	T129M, T255M	Elsahy-Waters syndrome, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11925825.	NM_001797.4(CDH11):c.825G>A (p.Met275Ile) GRCh37: Chr16:65022234 GRCh38: Chr16:64988331	CDH11	M149I, M275I	Elsahy-Waters syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 11925816.	NM_001797.4(CDH11):c.945G>A (p.Ser315=) GRCh37: Chr16:65022114 GRCh38: Chr16:64988211	CDH11		Elsahy-Waters syndrome, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11925497.	NM_001797.4(CDH11):c.1117T>G (p.Ser373Ala) GRCh37: Chr16:65016087 GRCh38: Chr16:64982184	CDH11	S247A, S373A	Elsahy-Waters syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 11925488.	NM_001797.4(CDH11):c.1253+43G>C GRCh37: Chr16:65015908 GRCh38: Chr16:64982005	CDH11		Elsahy-Waters syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 11925479.	NM_001797.4(CDH11):c.1642+20C>T GRCh37: Chr16:65005462 GRCh38: Chr16:64971559	CDH11		Elsahy-Waters syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 117921510.	NM_001797.4(CDH11):c.811+13A>G GRCh37: Chr16:65025658 GRCh38: Chr16:64991755	CDH11		Elsahy-Waters syndrome, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52309911.	NM_001797.4(CDH11):c.696C>G (p.Tyr232Ter) GRCh37: Chr16:65025786 GRCh38: Chr16:64991883	CDH11	Y232, Y106	Elsahy-Waters syndrome	Pathogenic (Apr 27, 2018)	no assertion criteria provided
Select item 52309812.	NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG (p.Ile372fs) GRCh37: Chr16:65016087-65016088 GRCh38: Chr16:64982184-64982185	CDH11	I246fs, I372fs	Elsahy-Waters syndrome	Pathogenic (Apr 27, 2018)	no assertion criteria provided
Select item 52309713.	NM_001797.4(CDH11):c.999+1G>T GRCh37: Chr16:65022059 GRCh38: Chr16:64988156	CDH11		Elsahy-Waters syndrome	Pathogenic (Apr 27, 2018)	no assertion criteria provided