C3714948[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156022	NM_005554.4(KRT6A):c.1460-2A>C	KRT6A	Single nucleotide variant (splice acceptor variant)	Pachyonychia congenita 3	GPathogenic
Select item 14636	NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)	KRT6A (E472K)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3 +1 more	GPathogenic/Likely pathogenic
Select item 66576	NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro)	KRT6A (L469P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3	GPathogenic
Select item 14637	NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)	KRT6A (L469R)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3	GPathogenic
Select item 827961	NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)	KRT6A (E461*)	Single nucleotide variant (nonsense)	Pachyonychia congenita 3	GLikely pathogenic
Select item 66591	NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser)	KRT6A (F174S)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3	GPathogenic
Select item 14635	NM_005554.4(KRT6A):c.520T>G (p.Phe174Val)	KRT6A (F174V)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3	GPathogenic
Select item 14634	NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del)	KRT6A (N172del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 66589	NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)	KRT6A (N171K)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3 +1 more	GPathogenic
Select item 66588	NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser)	KRT6A (N171S)	Single nucleotide variant (missense variant)	Pachyonychia congenita 3 +1 more	GPathogenic