ClinVar for MedGen (Select 1794134) - ClinVar

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Items: 21

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 13389732.	NM_000526.5(KRT14):c.373C>A (p.Arg125Ser) GRCh37: Chr17:39742714 GRCh38: Chr17:41586462	KRT14	R125S	Epidermolysis bullosa simplex, Koebner type	Uncertain significance	criteria provided, single submitter
Select item 7818593.	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 4386514.	NM_000424.4(KRT5):c.1394T>G (p.Val465Gly) GRCh37: Chr12:52910466 GRCh38: Chr12:52516682	KRT5, LOC126861525	V465G	Epidermolysis bullosa simplex, Koebner type	Likely pathogenic (Apr 20, 2017)	no assertion criteria provided
Select item 3700425.	NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) GRCh37: Chr3:183368146 GRCh38: Chr3:183650358	KLHL24	M1T	Epidermolysis bullosa simplex, Koebner type	Pathogenic (Aug 1, 2016)	criteria provided, single submitter
Select item 2646486.	NM_017644.3(KLHL24):c.1A>G (p.Met1Val) GRCh37: Chr3:183368145 GRCh38: Chr3:183650357	KLHL24	M1V	not provided, Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, Epidermolysis bullosa simplex, Koebner type	Pathogenic (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2646477.	NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) GRCh37: Chr3:183368147 GRCh38: Chr3:183650359	KLHL24	M1I	Epidermolysis bullosa simplex, Koebner type	Pathogenic (Sep 1, 2016)	criteria provided, single submitter
Select item 2646468.	NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) GRCh37: Chr3:183368147 GRCh38: Chr3:183650359	KLHL24	M1I	Epidermolysis bullosa simplex, Koebner type	Pathogenic (Sep 1, 2016)	criteria provided, single submitter
Select item 663779.	NM_000526.5(KRT14):c.808G>A (p.Val270Met) GRCh37: Chr17:39740131 GRCh38: Chr17:41583879	KRT14	V270M	Epidermolysis bullosa simplex, Koebner type	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 6634610.	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 6634111.	NM_000526.5(KRT14):c.355A>G (p.Met119Val) GRCh37: Chr17:39742732 GRCh38: Chr17:41586480	KRT14	M119V	not provided, Dermatopathia pigmentosa reticularis	Pathogenic/Likely pathogenic (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6633212.	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 6633113.	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 6631914.	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
Select item 6631515.	NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter) GRCh37: Chr17:39739530 GRCh38: Chr17:41583278	KRT14	E411*	Epidermolysis bullosa simplex, Koebner type	Pathogenic (Nov 11, 2021)	no assertion criteria provided
Select item 6621316.	NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys) GRCh37: Chr12:52910449 GRCh38: Chr12:52516665	KRT5, LOC126861525	R471C	not provided, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex, Koebner type	Uncertain significance (Feb 5, 2020)	criteria provided, multiple submitters, no conflicts
Select item 1464117.	NM_000424.4(KRT5):c.980T>C (p.Met327Thr) GRCh37: Chr12:52911486 GRCh38: Chr12:52517702	KRT5	M327T	Dowling-Degos disease 1, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, not provided, Epidermolysis bullosa simplex, Koebner type	Pathogenic (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1462118.	NM_000526.5(KRT14):c.1243T>C (p.Tyr415His) GRCh37: Chr17:39739518 GRCh38: Chr17:41583266	KRT14	Y415H	not provided	Pathogenic (Mar 27, 2015)	criteria provided, single submitter
Select item 1461719.	NM_000526.5(KRT14):c.815T>G (p.Met272Arg) GRCh37: Chr17:39740124 GRCh38: Chr17:41583872	KRT14	M272R	Epidermolysis bullosa simplex, Koebner type	Pathogenic (Jan 1, 1993)	no assertion criteria provided
Select item 1461220.	NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) GRCh37: Chr17:39742714 GRCh38: Chr17:41586462	KRT14	R125C	Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1A, generalized severe, not provided, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex, Koebner type	Pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1461121.	NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro) GRCh37: Chr17:39739610 GRCh38: Chr17:41583358	KRT14	L384P	Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic/Likely pathogenic (Oct 30, 2023)	no assertion criteria provided

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Items: 21