"GeneDx"[submitter] AND "KRT17"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1269508	NM_000422.3(KRT17):c.515+42C>G	KRT17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14598	NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)	KRT17 (L99P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 265321	NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)	KRT17 (S97del)	Microsatellite (inframe_deletion)	Steatocystoma multiplex +2 more	GPathogenic/Likely pathogenic
Select item 14596	NM_000422.3(KRT17):c.284T>C (p.Leu95Pro)	KRT17 (L95P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14591	NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)	KRT17 (R94C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 14587	NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)	KRT17 (N92S)	Single nucleotide variant (missense variant)	Abnormality of the skin +3 more	GPathogenic
Select item 14586	NM_000422.3(KRT17):c.274A>G (p.Asn92Asp)	KRT17 (N92D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2579370	NM_000422.3(KRT17):c.242_243delinsTC (p.Ala81Val)	KRT17 (A81V)	Indel (missense variant)	not provided	GUncertain significance
Select item 3116340	NM_000422.3(KRT17):c.101G>A (p.Gly34Asp)	KRT17 (G34D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1250030	NM_000422.3(KRT17):c.-42T>C	KRT17	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign