ClinVar for MedGen (Select 91010) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16682871.	NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr) GRCh37: Chr17:39742899 GRCh38: Chr17:41586647	KRT14	C63Y	Naegeli-Franceschetti-Jadassohn syndrome, Epidermolysis bullosa simplex 1A, generalized severe, Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1C, localized, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7818592.	NM_000526.5(KRT14):c.166C>T (p.Arg56Cys) GRCh37: Chr17:39742921 GRCh38: Chr17:41586669	KRT14	R56C	Epidermolysis bullosa simplex 1A, generalized severe, Dermatopathia pigmentosa reticularis, Naegeli-Franceschetti-Jadassohn syndrome, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1C, localized, not provided	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 663463.	NM_000526.5(KRT14):c.369T>C (p.Asn123=) GRCh37: Chr17:39742718 GRCh38: Chr17:41586466	KRT14		not specified, Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, Naegeli-Franceschetti-Jadassohn syndrome, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1A, generalized severe, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 663334.	NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) GRCh37: Chr17:39743068 GRCh38: Chr17:41586816	KRT14	Q7*	Naegeli-Franceschetti-Jadassohn syndrome	Pathogenic (Sep 28, 2021)	no assertion criteria provided
Select item 663325.	NM_000526.5(KRT14):c.193C>T (p.Leu65=) GRCh37: Chr17:39742894 GRCh38: Chr17:41586642	KRT14		Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, Naegeli-Franceschetti-Jadassohn syndrome, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1A, generalized severe, not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 663316.	NM_000526.5(KRT14):c.189C>T (p.Cys63=) GRCh37: Chr17:39742898 GRCh38: Chr17:41586646	KRT14		Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, Naegeli-Franceschetti-Jadassohn syndrome, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1A, generalized severe, not specified, not provided	Benign (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 663297.	NM_000526.5(KRT14):c.17del (p.Arg6fs) GRCh37: Chr17:39743070 GRCh38: Chr17:41586818	KRT14	R6fs	Naegeli-Franceschetti-Jadassohn syndrome	Pathogenic (Jun 1, 1993)	no assertion criteria provided
Select item 663198.	NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) GRCh37: Chr17:39739524 GRCh38: Chr17:41583272	KRT14	A413T	Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, Naegeli-Franceschetti-Jadassohn syndrome, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1A, generalized severe, not provided	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts