"PreventionGenetics, part of Exact Sciences"[submitter] AND "KRT13"[ge - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046593	NM_153490.3(KRT13):c.1356T>G (p.Thr452=)	KRT13	Single nucleotide variant (3 prime UTR variant +1 more)	KRT13-related disorder	GLikely benign
Select item 323076	NM_153490.3(KRT13):c.1276G>A (p.Val426Ile)	KRT13 (R417H +1 more)	Single nucleotide variant (missense variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 3042192	NM_153490.3(KRT13):c.1270+8A>G	KRT13	Single nucleotide variant (intron variant)	KRT13-related disorder	GBenign
Select item 3045314	NM_153490.3(KRT13):c.1064G>A (p.Arg355His)	KRT13 (R355H)	Single nucleotide variant (missense variant)	KRT13-related disorder	GLikely benign
Select item 323080	NM_153490.3(KRT13):c.1028C>T (p.Ala343Val)	KRT13 (A343V)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign/Likely benign
Select item 323081	NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro)	KRT13 (S337P)	Single nucleotide variant (missense variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 323087	NM_153490.3(KRT13):c.815G>A (p.Arg272His)	KRT13 (R272H)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign/Likely benign
Select item 323088	NM_153490.3(KRT13):c.767G>A (p.Gly256Asp)	KRT13 (G256D)	Single nucleotide variant (missense variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 323090	NM_153490.3(KRT13):c.765C>T (p.Val255=)	KRT13	Single nucleotide variant (synonymous variant)	KRT13-related disorder +1 more	GBenign/Likely benign
Select item 323092	NM_153490.3(KRT13):c.736-7C>G	KRT13	Single nucleotide variant (intron variant)	White sponge nevus 2 +2 more	GBenign
Select item 323101	NM_153490.3(KRT13):c.437C>G (p.Ala146Gly)	KRT13 (A146G)	Single nucleotide variant (missense variant)	KRT13-related disorder +2 more	GBenign
Select item 323103	NM_153490.3(KRT13):c.409C>T (p.Arg137Cys)	KRT13 (R137C)	Single nucleotide variant (missense variant)	White sponge nevus 2 +1 more	GBenign
Select item 891433	NM_153490.3(KRT13):c.291C>T (p.Gly97=)	KRT13	Single nucleotide variant (synonymous variant)	KRT13-related disorder +1 more	GLikely benign
Select item 3044939	NM_153490.3(KRT13):c.48C>T (p.Phe16=)	KRT13	Single nucleotide variant (synonymous variant)	KRT13-related disorder	GLikely benign