"KRT17-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037508	NM_000422.3(KRT17):c.1182-9_1182-8dup	KRT17	Duplication (intron variant)	KRT17-related disorder	GLikely benign
Select item 3047324	NM_000422.3(KRT17):c.729T>G (p.Ala243=)	KRT17	Single nucleotide variant (synonymous variant)	KRT17-related disorder	GLikely benign
Select item 1959676	NM_000422.3(KRT17):c.673-7T>C	KRT17	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1919633	NM_000422.3(KRT17):c.672+5G>A	KRT17	Single nucleotide variant (intron variant)	KRT17-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3047810	NM_000422.3(KRT17):c.372C>T (p.Ala124=)	KRT17	Single nucleotide variant (synonymous variant)	KRT17-related disorder	GLikely benign
Select item 3053207	NM_000422.3(KRT17):c.108T>C (p.Gly36=)	KRT17	Single nucleotide variant (synonymous variant)	KRT17-related disorder	GLikely benign
Select item 793362	NM_000422.3(KRT17):c.99C>T (p.Gly33=)	KRT17	Single nucleotide variant (synonymous variant)	KRT17-related disorder +1 more	GBenign/Likely benign
Select item 3037712	NM_000422.3(KRT17):c.-5C>T	KRT17	Single nucleotide variant (5 prime UTR variant)	KRT17-related disorder	GBenign
Select item 380281	NM_000422.3(KRT17):c.-6G>C	KRT17	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 3035336	NM_000422.3(KRT17):c.-9G>A	KRT17	Single nucleotide variant (5 prime UTR variant)	KRT17-related disorder	GLikely benign
Select item 3055256	NM_000422.3(KRT17):c.-10C>T	KRT17	Single nucleotide variant (5 prime UTR variant)	KRT17-related disorder	GBenign