KRT23[gene] - ClinVar

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Items: 37

	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 3289372	NM_015515.5(KRT23):c.1264G>A (p.Ala422Thr)	KRT23 (A422T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289371	NM_015515.5(KRT23):c.1148G>A (p.Arg383Gln)	KRT23 (R246Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116387	NM_015515.5(KRT23):c.1147C>T (p.Arg383Trp)	KRT23 (R246W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540968	NM_015515.5(KRT23):c.1118G>A (p.Arg373Gln)	KRT23 (R236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616429	NM_015515.5(KRT23):c.1081A>G (p.Lys361Glu)	KRT23 (K224E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523725	NM_015515.5(KRT23):c.1046G>A (p.Arg349Gln)	KRT23 (R212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708991	NM_015515.5(KRT23):c.1018C>T (p.Leu340=)	KRT23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317282	NM_015515.5(KRT23):c.968C>T (p.Ser323Phe)	KRT23 (S323F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289373	NM_015515.5(KRT23):c.940A>G (p.Met314Val)	KRT23 (M177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
Select item 2323883	NM_015515.5(KRT23):c.849A>C (p.Arg283Ser)	KRT23 (R146S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116389	NM_015515.5(KRT23):c.848G>A (p.Arg283Lys)	KRT23 (R146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529143	NM_015515.5(KRT23):c.779A>G (p.Asp260Gly)	KRT23 (D260G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397004	NM_015515.5(KRT23):c.656T>A (p.Val219Glu)	KRT23 (V82E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548255	NM_015515.5(KRT23):c.620A>G (p.Lys207Arg)	KRT23 (K207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615513	NM_015515.5(KRT23):c.542C>A (p.Thr181Asn)	KRT23 (T44N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526071	NM_015515.5(KRT23):c.448G>A (p.Ala150Thr)	KRT23 (A150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289374	NM_015515.5(KRT23):c.440T>G (p.Ile147Ser)	KRT23 (I147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116388	NM_015515.5(KRT23):c.391G>A (p.Glu131Lys)	KRT23 (E131K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259327	NM_015515.5(KRT23):c.307C>A (p.Arg103Ser)	KRT23 (R103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392080	NM_015515.5(KRT23):c.272G>A (p.Arg91His)	KRT23 (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240101	NM_015515.5(KRT23):c.205G>C (p.Gly69Arg)	KRT23 (G69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604183	NM_015515.5(KRT23):c.202C>G (p.Leu68Val)	KRT23 (L68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491621	NM_015515.5(KRT23):c.184G>C (p.Gly62Arg)	KRT23 (G62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455938	NM_015515.5(KRT23):c.169G>A (p.Gly57Arg)	KRT23 (G57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458586	NM_015515.5(KRT23):c.149G>T (p.Arg50Leu)	KRT23 (R50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355179	NM_015515.5(KRT23):c.115G>A (p.Gly39Arg)	KRT23 (G39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490335	NM_015515.5(KRT23):c.104A>C (p.His35Pro)	KRT23 (H35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383321	NM_015515.5(KRT23):c.88A>G (p.Arg30Gly)	KRT23 (R30G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647751	NM_015515.5(KRT23):c.48T>G (p.His16Gln)	KRT23 (H16Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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: 37