ClinVar for MedGen (Select 38194) - ClinVar

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Items: 24

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26274721.	NM_000526.5(KRT14):c.614del (p.Glu205fs) GRCh37: Chr17:39740660 GRCh38: Chr17:41584408	KRT14	E205fs	Epidermolysis bullosa simplex 1A, generalized severe	Likely pathogenic	criteria provided, single submitter
Select item 16682872.	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 13334293.	NM_000424.4(KRT5):c.529A>T (p.Asn177Tyr) GRCh37: Chr12:52913552 GRCh38: Chr12:52519768	KRT5	N177Y	Epidermolysis bullosa simplex 1A, generalized severe	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13211914.	NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del) GRCh37: Chr17:39739502-39739519 GRCh38: Chr17:41583250-41583267	KRT14		Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic (Nov 9, 2021)	no assertion criteria provided
Select item 7818595.	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 3095756.	NM_000424.4(KRT5):c.110G>A (p.Arg37Gln) GRCh37: Chr12:52913971 GRCh38: Chr12:52520187	KRT5	R37Q	Dowling-Degos disease 1, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 2B, generalized intermediate, Epidermolysis bullosa simplex 2C, localized, Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive, Epidermolysis bullosa simplex, not provided	Benign/Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 663467.	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 663328.	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 663319.	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 6632310.	NM_000526.5(KRT14):c.1246del (p.Arg416fs) GRCh37: Chr17:39739515 GRCh38: Chr17:41583263	KRT14	R416fs	Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic (Nov 11, 2021)	no assertion criteria provided
Select item 6631911.	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 6630912.	NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter) GRCh37: Chr17:39739575 GRCh38: Chr17:41583323	KRT14	Q396*	Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	Likely pathogenic	criteria provided, single submitter
Select item 6627713.	NM_000424.4(KRT5):c.594C>A (p.Thr198=) GRCh37: Chr12:52912906 GRCh38: Chr12:52519122	KRT5, LOC126861526		not specified, not provided, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 2B, generalized intermediate, Epidermolysis bullosa simplex 2C, localized, Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive, Epidermolysis bullosa simplex 1A, generalized severe, Dowling-Degos disease 1, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation ...see more	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6627314.	NM_000424.4(KRT5):c.579C>A (p.Asn193Lys) GRCh37: Chr12:52912921 GRCh38: Chr12:52519137	LOC126861526, KRT5	N193K	Epidermolysis bullosa simplex 1A, generalized severe	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 6621515.	NM_000424.4(KRT5):c.1427G>A (p.Gly476Asp) GRCh37: Chr12:52910433 GRCh38: Chr12:52516649	KRT5, LOC126861525	G476D	Epidermolysis bullosa simplex 1A, generalized severe, not provided	Pathogenic (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2117416.	NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) GRCh37: Chr12:52910431 GRCh38: Chr12:52516647	KRT5, LOC126861525	E477K	Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex with mottled pigmentation	Pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 1465017.	NM_000424.4(KRT5):c.541T>C (p.Ser181Pro) GRCh37: Chr12:52913540 GRCh38: Chr12:52519756	KRT5	S181P	Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic (Feb 1, 2000)	no assertion criteria provided
Select item 1464118.	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 1462819.	NM_000526.5(KRT14):c.368A>G (p.Asn123Ser) GRCh37: Chr17:39742719 GRCh38: Chr17:41586467	KRT14	N123S	not provided	Pathogenic (Oct 18, 2023)	criteria provided, single submitter
Select item 1462220.	NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln) GRCh37: Chr17:39739505 GRCh38: Chr17:41583253	KRT14	L419Q	Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic (Oct 28, 2021)	no assertion criteria provided
Select item 1461921.	NM_000526.5(KRT14):c.356T>C (p.Met119Thr) GRCh37: Chr17:39742731 GRCh38: Chr17:41586479	KRT14	M119T	not provided	Pathogenic (Dec 8, 2020)	criteria provided, single submitter
Select item 1461322.	NM_000526.5(KRT14):c.374G>A (p.Arg125His) GRCh37: Chr17:39742713 GRCh38: Chr17:41586461	KRT14	R125H	KRT14-related condition, not provided, Dermatopathia pigmentosa reticularis	Pathogenic (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1461223.	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 1461124.	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: 24