"Ambry Genetics"[submitter] AND "KRT8"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56170	NM_002273.4(KRT8):c.1412G>A (p.Gly471Glu)	KRT8 (G471E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396856	NM_002273.4(KRT8):c.1334C>G (p.Ser445Cys)	KRT8 (S473C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116702	NM_002273.4(KRT8):c.1330G>A (p.Gly444Ser)	KRT8 (G444S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516343	NM_002273.4(KRT8):c.1174A>G (p.Arg392Gly)	KRT8 (R420G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289551	NM_002273.4(KRT8):c.1105C>T (p.Arg369Trp)	KRT8 (R369W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258832	NM_002273.4(KRT8):c.1051G>A (p.Ala351Thr)	KRT8 (A351T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601828	NM_002273.4(KRT8):c.1000G>A (p.Ala334Thr)	KRT8 (A334T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116705	NM_002273.4(KRT8):c.946C>T (p.Arg316Trp)	KRT8 (R316W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548539	NM_002273.4(KRT8):c.930G>T (p.Met310Ile)	KRT8 (M310I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289549	NM_002273.4(KRT8):c.905G>A (p.Arg302His)	KRT8 (R330H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289552	NM_002273.4(KRT8):c.772A>G (p.Ser258Gly)	KRT8 (S258G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3116704	NM_002273.4(KRT8):c.739T>G (p.Ser247Ala)	KRT8 (S275A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398297	NM_002273.4(KRT8):c.625G>A (p.Glu209Lys)	KRT8 (E209K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486736	NM_002273.4(KRT8):c.572A>G (p.Asn191Ser)	KRT8 (N219S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411183	NM_002273.4(KRT8):c.556C>G (p.Arg186Gly)	KRT8 (R186G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621684	NM_002273.4(KRT8):c.475C>A (p.Leu159Met)	KRT8 (L159M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237573	NM_002273.4(KRT8):c.439C>G (p.Leu147Val)	KRT8 (L147V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116703	NM_002273.4(KRT8):c.218T>G (p.Leu73Arg)	KRT8 (L101R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289550	NM_002273.4(KRT8):c.173G>A (p.Ser58Asn)	KRT8 (S58N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592081	NM_002273.4(KRT8):c.95G>C (p.Arg32Pro)	KRT8 (R60P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610858	NM_002273.4(KRT8):c.49C>T (p.Pro17Ser)	KRT8 (P17S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541198	NM_002273.4(KRT8):c.25T>G (p.Ser9Ala)	KRT8 (S9A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116347	NM_000224.3(KRT18):c.11C>T (p.Thr4Ile)	KRT18, KRT8 +1 more (T4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116351	NM_000224.3(KRT18):c.83C>T (p.Pro28Leu)	KRT18, KRT8 +1 more (P28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227061	NM_000224.3(KRT18):c.107A>C (p.Tyr36Ser)	KRT18, KRT8 +1 more (Y36S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512354	NM_000224.3(KRT18):c.356A>G (p.Lys119Arg)	KRT18, KRT8 +1 more (K119R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance

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Items: 26