"KRT6A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773545	NM_005554.4(KRT6A):c.1567G>A (p.Val523Ile)	KRT6A (V523I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1012820	NM_005554.4(KRT6A):c.1449A>G (p.Gln483=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3042714	NM_005554.4(KRT6A):c.1328G>A (p.Arg443Gln)	KRT6A (R443Q)	Single nucleotide variant (missense variant)	KRT6A-related disorder	GBenign
Select item 378063	NM_005554.4(KRT6A):c.1327C>T (p.Arg443Trp)	KRT6A (R443W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3040393	NM_005554.4(KRT6A):c.1326C>T (p.Ala442=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 3043315	NM_005554.4(KRT6A):c.1290G>T (p.Leu430=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 715770	NM_005554.4(KRT6A):c.1244G>A (p.Arg415His)	KRT6A (R415H)	Single nucleotide variant (missense variant)	KRT6A-related disorder +1 more	GBenign
Select item 2914614	NM_005554.4(KRT6A):c.939C>A (p.Ile313=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder +1 more	GLikely benign
Select item 1535096	NM_005554.4(KRT6A):c.921C>T (p.Ser307=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder +1 more	GBenign/Likely benign
Select item 1300086	NM_005554.4(KRT6A):c.819T>C (p.Asp273=)	KRT6A	Single nucleotide variant (synonymous variant)	Pachyonychia congenita 3 +2 more	GBenign
Select item 3037504	NM_005554.4(KRT6A):c.687C>G (p.Val229=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 3041115	NM_005554.4(KRT6A):c.592C>T (p.Leu198=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 1291208	NM_005554.4(KRT6A):c.540+9G>A	KRT6A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 768548	NM_005554.4(KRT6A):c.495A>G (p.Glu165=)	KRT6A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1233095	NM_005554.4(KRT6A):c.483T>C (p.Ala161=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder +2 more	GBenign
Select item 3051754	NM_005554.4(KRT6A):c.334C>T (p.Leu112=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 3052154	NM_005554.4(KRT6A):c.318C>T (p.Ala106=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 3045037	NM_005554.4(KRT6A):c.285C>T (p.Gly95=)	KRT6A	Single nucleotide variant (synonymous variant)	KRT6A-related disorder	GLikely benign
Select item 1300087	NM_005554.4(KRT6A):c.62A>G (p.Asn21Ser)	KRT6A (N21S)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3 +1 more	GBenign
Select item 3050566	NM_005554.4(KRT6A):c.56G>A (p.Ser19Asn)	KRT6A (S19N)	Single nucleotide variant (missense variant)	KRT6A-related disorder	GLikely benign
Select item 3041915	NM_005554.4(KRT6A):c.14C>T (p.Ser5Phe)	KRT6A (S5F)	Single nucleotide variant (missense variant)	KRT6A-related disorder	GLikely benign

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Items: 21