ClinVar for MedGen (Select 314107) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773316	NM_000422.3(KRT17):c.834+5G>A	KRT17	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 518252	NM_005555.4(KRT6B):c.332G>A (p.Gly111Asp)	KRT6B (G111D)	Single nucleotide variant (missense variant)	KRT6B-related disorder +1 more	GBenign
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 14599	NM_000422.3(KRT17):c.304G>A (p.Val102Met)	KRT17 (V102M)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14598	NM_000422.3(KRT17):c.296T>C (p.Leu99Pro)	KRT17 (L99P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14596	NM_000422.3(KRT17):c.284T>C (p.Leu95Pro)	KRT17 (L95P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14595	NM_000422.3(KRT17):c.284T>A (p.Leu95Gln)	KRT17 (L95Q)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14594	NM_000422.3(KRT17):c.281G>C (p.Arg94Pro)	KRT17 (R94P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14593	NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del)	KRT17	Deletion (inframe_deletion)	Pachyonychia congenita 2	GPathogenic
Select item 14592	NM_000422.3(KRT17):c.263T>C (p.Met88Thr)	KRT17 (M88T)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14591	NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)	KRT17 (R94C)	Single nucleotide variant (missense variant)	Steatocystoma multiplex +1 more	GConflicting classifications of pathogenicity
Select item 14590	NM_000422.3(KRT17):c.281G>A (p.Arg94His)	KRT17 (R94H)	Single nucleotide variant (missense variant)	Steatocystoma multiplex +2 more	GPathogenic/Likely pathogenic
Select item 14588	NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp)	KRT17 (Y98D)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2	GPathogenic
Select item 14587	NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)	KRT17 (N92S)	Single nucleotide variant (missense variant)	Pachyonychia congenita 2 +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