"Ambry Genetics"[submitter] AND "KRT18"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3289349	NM_000224.3(KRT18):c.518C>G (p.Ala173Gly)	KRT18, LOC106096416 (A173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234332	NM_000224.3(KRT18):c.553C>T (p.Leu185Phe)	KRT18, LOC106096416 (L185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322154	NM_000224.3(KRT18):c.557G>A (p.Arg186His)	KRT18, LOC106096416 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116349	NM_000224.3(KRT18):c.561G>T (p.Lys187Asn)	KRT18, LOC106096416 (K187N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116350	NM_000224.3(KRT18):c.772G>A (p.Glu258Lys)	KRT18, LOC106096416 (E258K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550679	NM_000224.3(KRT18):c.910C>G (p.Gln304Glu)	KRT18, LOC106096416 (Q304E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250720	NM_000224.3(KRT18):c.989G>A (p.Arg330His)	KRT18, LOC106096416 (R330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116344	NM_000224.3(KRT18):c.1057C>T (p.Arg353Trp)	KRT18, LOC106096416 (R353W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465784	NM_000224.3(KRT18):c.1142G>A (p.Arg381His)	KRT18, LOC106096416 (R381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289348	NM_000224.3(KRT18):c.1162G>A (p.Glu388Lys)	KRT18, LOC106096416 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116346	NM_000224.3(KRT18):c.1184C>T (p.Ala395Val)	KRT18, LOC106096416 (A395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116348	NM_000224.3(KRT18):c.1268A>G (p.Asn423Ser)	KRT18, LOC106096416 (N423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242914	NM_000224.3(KRT18):c.1277A>C (p.Lys426Thr)	KRT18, LOC106096416 (K426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance