"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66641	NM_006121.4(KRT1):c.1762A>G (p.Arg588Gly)	KRT1 (R588G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66640	NM_006121.4(KRT1):c.1751dup (p.Ser584fs)	KRT1 (S584fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 66639	NM_006121.4(KRT1):c.1669_1689del (p.Ser557_Gly563del)	KRT1	Deletion (inframe_deletion)	not provided	GBenign
Select item 66638	NM_006121.4(KRT1):c.1628del (p.Gly543fs)	KRT1 (G543fs)	Deletion (frameshift variant)	Keratosis palmoplantaris striata 3	GPathogenic
Select item 15919	NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs)	KRT1 (G537fs)	Indel (frameshift variant)	Ichthyosis hystrix of Curth-Macklin	GPathogenic
Select item 66637	NM_006121.4(KRT1):c.1574_1600del (p.Tyr525_Gly533del)	KRT1	Deletion (inframe_deletion)	not provided	GBenign
Select item 66636	NM_006121.4(KRT1):c.1556del (p.Gly519fs)	KRT1 (G519fs)	Deletion (frameshift variant)	Ichthyosis hystrix of Curth-Macklin	GPathogenic
Select item 66635	NM_006121.4(KRT1):c.1469A>G (p.Glu490Gly)	KRT1 (E490G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66634	NM_006121.4(KRT1):c.1468G>C (p.Glu490Gln)	KRT1 (E490Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66633	NM_006121.4(KRT1):c.1468G>A (p.Glu490Lys)	KRT1 (E490K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66632	NM_006121.4(KRT1):c.1465G>A (p.Glu489Lys)	KRT1 (E489K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66631	NM_006121.4(KRT1):c.1457T>G (p.Leu486Arg)	KRT1 (L486R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66630	NM_006121.4(KRT1):c.1457T>C (p.Leu486Pro)	KRT1 (L486P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66629	NM_006121.4(KRT1):c.1454T>C (p.Leu485Pro)	KRT1 (L485P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15909	NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys)	KRT1 (Y482C)	Single nucleotide variant (missense variant)	Epidermolytic ichthyosis	GPathogenic
Select item 66628	NM_006121.4(KRT1):c.1441A>C (p.Thr481Pro)	KRT1 (T481P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 15912	NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe)	KRT1 (I479F)	Single nucleotide variant (missense variant)	Ichthyosis, annular epidermolytic, 2	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 66626	NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln)	KRT1 (E478Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66625	NM_006121.4(KRT1):c.1432G>A (p.Glu478Lys)	KRT1 (E478K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66624	NM_006121.4(KRT1):c.1413= (p.Thr471=)	KRT1	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 66622	NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del)	KRT1	Deletion (inframe_deletion)	Diffuse nonepidermolytic palmoplantar keratoderma	GPathogenic
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 66620	NM_006121.4(KRT1):c.1310T>C (p.Leu437Pro)	KRT1 (L437P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66619	NM_006121.4(KRT1):c.1254+1G>A	KRT1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 66618	NM_006121.4(KRT1):c.1072T>A (p.Tyr358Asn)	KRT1 (Y358N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66617	NM_006121.4(KRT1):c.1019A>T (p.Asp340Val)	KRT1 (D340V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66616	NM_006121.4(KRT1):c.1019A>G (p.Asp340Gly)	KRT1 (D340G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 66665	NM_006121.4(KRT1):c.800G>A (p.Arg267Gln)	KRT1 (R267Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66663	NM_006121.4(KRT1):c.720G>A (p.Arg240=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 66661	NM_006121.4(KRT1):c.693T>G (p.Phe231Leu)	KRT1 (F231L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66660	NM_006121.4(KRT1):c.641T>C (p.Leu214Pro)	KRT1 (L214P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66659	NM_006121.4(KRT1):c.623T>C (p.Leu208Pro)	KRT1 (L208P)	Single nucleotide variant (missense variant)	Epidermolytic ichthyosis	GPathogenic
Select item 66658	NM_006121.4(KRT1):c.591+3_591+6del	KRT1	Deletion (splice donor variant)	not provided	Gnot provided
Select item 66657	NM_006121.4(KRT1):c.591+2T>A	KRT1	Single nucleotide variant (splice donor variant)	Diffuse nonepidermolytic palmoplantar keratoderma	GPathogenic
Select item 66656	NM_006121.4(KRT1):c.591+1G>C	KRT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 66655	NM_006121.4(KRT1):c.591+1G>A	KRT1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 66654	NM_006121.4(KRT1):c.577T>C (p.Ser193Pro)	KRT1 (S193P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66653	NM_006121.4(KRT1):c.573T>G (p.Phe191Leu)	KRT1 (F191L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66652	NM_006121.4(KRT1):c.572T>G (p.Phe191Cys)	KRT1 (F191C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66651	NM_006121.4(KRT1):c.571T>A (p.Phe191Ile)	KRT1 (F191I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 66650	NM_006121.4(KRT1):c.563A>G (p.Asn188Ser)	KRT1 (N188S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66649	NM_006121.4(KRT1):c.563A>C (p.Asn188Thr)	KRT1 (N188T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66648	NM_006121.4(KRT1):c.559C>T (p.Leu187Phe)	KRT1 (L187F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66647	NM_006121.4(KRT1):c.556T>C (p.Ser186Pro)	KRT1 (S186P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66646	NM_006121.4(KRT1):c.536G>C (p.Arg179Pro)	KRT1 (R179P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66645	NM_006121.4(KRT1):c.531G>T (p.Lys177Asn)	KRT1 (K177N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66644	NM_006121.4(KRT1):c.508_519del (p.Asp170_Ile173del)	KRT1	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66643	NM_006121.4(KRT1):c.507_518del (p.Asp170_Ile173del)	KRT1	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 15908	NM_006121.4(KRT1):c.482T>C (p.Leu161Pro)	KRT1 (L161P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66642	NM_006121.4(KRT1):c.464T>G (p.Val155Gly)	KRT1 (V155G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 15913	NM_006121.4(KRT1):c.464T>A (p.Val155Asp)	KRT1 (V155D)	Single nucleotide variant (missense variant)	Epidermolytic ichthyosis	GPathogenic
Select item 15910	NM_006121.4(KRT1):c.221A>T (p.Lys74Ile)	KRT1 (K74I)	Single nucleotide variant (missense variant)	Diffuse nonepidermolytic palmoplantar keratoderma	GPathogenic
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: 60