KRT40[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
Select item 3116543	NM_001389244.1(KRT40):c.1276G>A (p.Val426Ile)	KRT40 (V426I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301053	NM_001389244.1(KRT40):c.1252T>C (p.Cys418Arg)	KRT40 (C418R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289472	NM_001389244.1(KRT40):c.1144C>A (p.Leu382Met)	KRT40 (L382M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116542	NM_001389244.1(KRT40):c.1100G>A (p.Arg367Gln)	KRT40 (R367Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467578	NM_001389244.1(KRT40):c.1096G>C (p.Glu366Gln)	KRT40 (E366Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255854	NM_001389244.1(KRT40):c.1085G>A (p.Arg362His)	KRT40 (R362H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281613	NM_001389244.1(KRT40):c.1076C>T (p.Ala359Val)	KRT40 (A359V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381494	NM_001389244.1(KRT40):c.1053C>G (p.Ile351Met)	KRT40 (I351M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470411	NM_001389244.1(KRT40):c.955C>T (p.Leu319Phe)	KRT40 (L319F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531448	NM_001389244.1(KRT40):c.944T>C (p.Leu315Pro)	KRT40 (L315P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289469	NM_001389244.1(KRT40):c.934G>C (p.Ala312Pro)	KRT40 (A312P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318244	NM_001389244.1(KRT40):c.934G>A (p.Ala312Thr)	KRT40 (A312T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391853	NM_001389244.1(KRT40):c.883G>A (p.Ala295Thr)	KRT40 (A295T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341132	NM_001389244.1(KRT40):c.829G>A (p.Glu277Lys)	KRT40 (E277K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319080	NM_001389244.1(KRT40):c.800C>T (p.Thr267Met)	KRT40 (T267M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116549	NM_001389244.1(KRT40):c.784C>T (p.Arg262Cys)	KRT40 (R262C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116548	NM_001389244.1(KRT40):c.766A>G (p.Arg256Gly)	KRT40 (R256G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289470	NM_001389244.1(KRT40):c.728G>A (p.Ser243Asn)	KRT40 (S243N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619243	NM_001389244.1(KRT40):c.680A>G (p.His227Arg)	KRT40 (H227R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287064	NM_001389244.1(KRT40):c.628G>A (p.Glu210Lys)	KRT40 (E210K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213765	NM_001389244.1(KRT40):c.590G>C (p.Gly197Ala)	KRT40 (G197A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524253	NM_001389244.1(KRT40):c.558G>T (p.Gln186His)	KRT40 (Q186H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289471	NM_001389244.1(KRT40):c.503A>G (p.Lys168Arg)	KRT40 (K168R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412124	NM_001389244.1(KRT40):c.407A>G (p.Tyr136Cys)	KRT40 (Y136C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360037	NM_001389244.1(KRT40):c.391A>G (p.Met131Val)	KRT40 (M131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267023	NM_001389244.1(KRT40):c.322C>A (p.Arg108Ser)	KRT40 (R108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215723	NM_001389244.1(KRT40):c.318G>C (p.Lys106Asn)	KRT40 (K106N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204152	NM_001389244.1(KRT40):c.275C>T (p.Thr92Met)	KRT40 (T92M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468982	NM_001389244.1(KRT40):c.229T>G (p.Cys77Gly)	KRT40 (C77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116545	NM_001389244.1(KRT40):c.169G>A (p.Gly57Ser)	KRT40 (G57S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116544	NM_001389244.1(KRT40):c.155C>G (p.Ser52Cys)	KRT40 (S52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397410	NM_001389244.1(KRT40):c.125G>A (p.Arg42Gln)	KRT40 (R42Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372106	NM_001389244.1(KRT40):c.106G>A (p.Gly36Ser)	KRT40 (G36S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2212278	NM_001389244.1(KRT40):c.71C>T (p.Ala24Val)	KRT40 (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116547	NM_001389244.1(KRT40):c.68C>G (p.Pro23Arg)	KRT40 (P23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511257	NM_001389244.1(KRT40):c.58G>A (p.Gly20Ser)	KRT40 (G20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116546	NM_001389244.1(KRT40):c.19T>C (p.Ser7Pro)	KRT40 (S7P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 564445	GRCh37/hg19 17q21.2(chr17:39043189-39492499)x1	KRT23, KRT39 +33 more	Copy number loss	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 44