"GeneDx"[submitter] AND "KRT1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309637	NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg)	KRT1 (K633R)	Single nucleotide variant (missense variant)	Epidermolytic ichthyosis +2 more	GBenign
Select item 817768	NM_006121.4(KRT1):c.1780_1787del (p.Gly594fs)	KRT1 (G594fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 15921	NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)	KRT1 (Y587fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 66639	NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del)	KRT1	Deletion (inframe_deletion)	not provided	GBenign
Select item 432078	NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe)	KRT1 (L485F)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +6 more	GPathogenic/Likely pathogenic
Select item 15911	NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr)	KRT1 (I479T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 391788	NM_006121.4(KRT1):c.1434G>C (p.Glu478Asp)	KRT1 (E478D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66627	NM_006121.4(KRT1):c.1434G>T (p.Glu478Asp)	KRT1 (E478D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1722918	NM_006121.4(KRT1):c.1397A>G (p.Gln466Arg)	KRT1 (Q466R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66623	NM_006121.4(KRT1):c.1389C>T (p.Arg463=)	KRT1	Single nucleotide variant (synonymous variant)	Diffuse nonepidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 66621	NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser)	KRT1 (A454S)	Single nucleotide variant (missense variant)	Epidermolytic ichthyosis +2 more	GBenign
Select item 432177	NM_006121.4(KRT1):c.1349C>A (p.Ala450Asp)	KRT1 (A450D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66620	NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro)	KRT1 (L437P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2717630	NM_006121.4(KRT1):c.1295G>A (p.Arg432His)	KRT1 (R432H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309645	NM_006121.4(KRT1):c.1074C>T (p.Tyr358=)	KRT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1271017	NM_006121.4(KRT1):c.964-74T>C	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66667	NM_006121.4(KRT1):c.963+52T>G	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66666	NM_006121.4(KRT1):c.868-31T>C	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579544	NM_006121.4(KRT1):c.790G>C (p.Glu264Gln)	KRT1 (E264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306753	NM_006121.4(KRT1):c.723_740del (p.Arg241_Lys246del)	KRT1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 66662	NM_006121.4(KRT1):c.698C>T (p.Ser233Leu)	KRT1 (S233L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 546332	NM_006121.4(KRT1):c.612G>C (p.Gln204His)	KRT1 (Q204H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193914	NM_006121.4(KRT1):c.593T>G (p.Val198Gly)	KRT1 (V198G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1243889	NM_006121.4(KRT1):c.592-142A>G	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291790	NM_006121.4(KRT1):c.592-147A>G	KRT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451394	NM_006121.4(KRT1):c.591+1G>T	KRT1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 432026	NM_006121.4(KRT1):c.574G>C (p.Ala192Pro)	KRT1 (A192P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15914	NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)	KRT1 (N188K)	Single nucleotide variant (missense variant)	KRT1-related disorder +2 more	GPathogenic
Select item 66648	NM_006121.4(KRT1):c.559C>T (p.Leu187Phe)	KRT1 (L187F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 989261	NM_006121.4(KRT1):c.532T>C (p.Ser178Pro)	KRT1 (S178P)	Single nucleotide variant (missense variant)	Annular epidermolytic ichthyosis +1 more	GLikely pathogenic
Select item 3253565	NM_006121.4(KRT1):c.485T>C (p.Leu162Pro)	KRT1 (L162P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309656	NM_006121.4(KRT1):c.113G>A (p.Arg38His)	KRT1 (R38H)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma +3 more	GBenign/Likely benign
Select item 66664	NM_006121.4(KRT1):c.75C>T (p.Ile25=)	KRT1	Single nucleotide variant (synonymous variant)	Epidermolytic ichthyosis +2 more	GBenign

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Items: 33