KRT80[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2307824	NM_182507.3(KRT80):c.1331T>G (p.Phe444Cys)	KRT80 (F444C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2358160	NM_182507.3(KRT80):c.1330T>G (p.Phe444Val)	KRT80 (F444V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3116706	NM_182507.3(KRT80):c.1297G>A (p.Val433Met)	KRT80 (V433M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2529093	NM_182507.3(KRT80):c.1235C>T (p.Ala412Val)	KRT80 (A412V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2212754	NM_182507.3(KRT80):c.1210G>A (p.Ala404Thr)	KRT80 (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377334	NM_182507.3(KRT80):c.1182G>A (p.Met394Ile)	KRT80 (M394I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600617	NM_182507.3(KRT80):c.1082G>A (p.Arg361Gln)	KRT80 (R361Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205458	NM_182507.3(KRT80):c.1081C>T (p.Arg361Trp)	KRT80 (R361W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227791	NM_182507.3(KRT80):c.1036G>T (p.Ala346Ser)	KRT80 (A346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289557	NM_182507.3(KRT80):c.929G>A (p.Arg310Gln)	KRT80 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116712	NM_182507.3(KRT80):c.913C>T (p.Arg305Cys)	KRT80 (R305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288569	NM_182507.3(KRT80):c.898G>A (p.Ala300Thr)	KRT80 (A300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116711	NM_182507.3(KRT80):c.894G>C (p.Glu298Asp)	KRT80 (E298D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401919	NM_182507.3(KRT80):c.891C>A (p.Ser297Arg)	KRT80 (S297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374618	NM_182507.3(KRT80):c.886C>T (p.Arg296Cys)	KRT80 (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476423	NM_182507.3(KRT80):c.853T>A (p.Ser285Thr)	KRT80 (S285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289554	NM_182507.3(KRT80):c.850C>A (p.Arg284Ser)	KRT80 (R284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116710	NM_182507.3(KRT80):c.793C>T (p.Arg265Cys)	KRT80 (R265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289555	NM_182507.3(KRT80):c.788C>T (p.Ala263Val)	KRT80 (A263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116709	NM_182507.3(KRT80):c.754G>A (p.Val252Met)	KRT80 (V252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289553	NM_182507.3(KRT80):c.728G>A (p.Arg243His)	KRT80 (R243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782219	NM_182507.3(KRT80):c.727C>T (p.Arg243Cys)	KRT80 (R243C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2306951	NM_182507.3(KRT80):c.716G>A (p.Gly239Asp)	KRT80 (G239D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785407	NM_182507.3(KRT80):c.712G>A (p.Val238Ile)	KRT80 (V238I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3116708	NM_182507.3(KRT80):c.607G>C (p.Glu203Gln)	KRT80 (E203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371344	NM_182507.3(KRT80):c.596G>A (p.Arg199Gln)	KRT80 (R199Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321152	NM_182507.3(KRT80):c.553T>C (p.Phe185Leu)	KRT80 (F185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455842	NM_182507.3(KRT80):c.524T>C (p.Ile175Thr)	KRT80 (I175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589925	NM_182507.3(KRT80):c.486G>T (p.Glu162Asp)	KRT80 (E162D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279911	NM_182507.3(KRT80):c.449G>A (p.Arg150Gln)	KRT80 (R150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516218	NM_182507.3(KRT80):c.431G>A (p.Arg144His)	KRT80 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716434	NM_182507.3(KRT80):c.430C>T (p.Arg144Cys)	KRT80 (R144C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2313048	NM_182507.3(KRT80):c.383T>C (p.Leu128Pro)	KRT80 (L128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353625	NM_182507.3(KRT80):c.379G>A (p.Asp127Asn)	KRT80 (D127N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367593	NM_182507.3(KRT80):c.320G>A (p.Arg107His)	KRT80 (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356225	NM_182507.3(KRT80):c.314A>T (p.Glu105Val)	KRT80 (E105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540013	NM_182507.3(KRT80):c.273T>G (p.Asn91Lys)	KRT80 (N91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289556	NM_182507.3(KRT80):c.252G>T (p.Lys84Asn)	KRT80 (K84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591745	NM_182507.3(KRT80):c.233A>T (p.Gln78Leu)	KRT80 (Q78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237216	NM_182507.3(KRT80):c.232C>A (p.Gln78Lys)	KRT80 (Q78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206664	NM_182507.3(KRT80):c.143G>A (p.Gly48Asp)	KRT80 (G48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518213	NM_182507.3(KRT80):c.134G>C (p.Ser45Thr)	KRT80 (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592047	NM_182507.3(KRT80):c.74G>A (p.Arg25Gln)	KRT80 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359787	NM_182507.3(KRT80):c.73C>T (p.Arg25Trp)	KRT80 (R25W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116707	NM_182507.3(KRT80):c.35G>A (p.Ser12Asn)	KRT80 (S12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468674	NM_182507.3(KRT80):c.26G>A (p.Gly9Asp)	KRT80 (G9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619050	NM_182507.3(KRT80):c.13T>C (p.Ser5Pro)	KRT80 (S5P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54