KRT36[gene] - ClinVar

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Items: 53

	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 3116489	NM_003771.5(KRT36):c.1383C>G (p.His461Gln)	KRT36 (H461Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289443	NM_003771.5(KRT36):c.1347G>C (p.Glu449Asp)	KRT36 (E449D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460666	NM_003771.5(KRT36):c.1326G>T (p.Gln442His)	KRT36 (Q442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395424	NM_003771.5(KRT36):c.1299C>G (p.Cys433Trp)	KRT36 (C433W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217119	NM_003771.5(KRT36):c.1271C>T (p.Pro424Leu)	KRT36 (P424L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289446	NM_003771.5(KRT36):c.1270C>T (p.Pro424Ser)	KRT36 (P424S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521722	NM_003771.5(KRT36):c.1222C>A (p.Pro408Thr)	KRT36 (P408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351264	NM_003771.5(KRT36):c.1180C>T (p.Arg394Cys)	KRT36 (R394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116488	NM_003771.5(KRT36):c.1151C>A (p.Ala384Asp)	KRT36 (A384D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270829	NM_003771.5(KRT36):c.1103A>T (p.Asp368Val)	KRT36 (D368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270828	NM_003771.5(KRT36):c.1102G>T (p.Asp368Tyr)	KRT36 (D368Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270827	NM_003771.5(KRT36):c.1072G>C (p.Val358Leu)	KRT36 (V358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615999	NM_003771.5(KRT36):c.1051A>T (p.Met351Leu)	KRT36 (M351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328419	NM_003771.5(KRT36):c.980A>C (p.His327Pro)	KRT36 (H327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292076	NM_003771.5(KRT36):c.958G>A (p.Glu320Lys)	KRT36 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116496	NM_003771.5(KRT36):c.940C>T (p.Arg314Cys)	KRT36 (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521170	NM_003771.5(KRT36):c.920C>T (p.Thr307Met)	KRT36 (T307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289441	NM_003771.5(KRT36):c.857C>T (p.Thr286Ile)	KRT36 (T286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486298	NM_003771.5(KRT36):c.830G>T (p.Arg277Leu)	KRT36 (R277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116495	NM_003771.5(KRT36):c.795G>C (p.Met265Ile)	KRT36 (M265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289445	NM_003771.5(KRT36):c.764C>A (p.Pro255Gln)	KRT36 (P255Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374385	NM_003771.5(KRT36):c.761C>G (p.Pro254Arg)	KRT36 (P254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116494	NM_003771.5(KRT36):c.754G>A (p.Ala252Thr)	KRT36 (A252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394707	NM_003771.5(KRT36):c.745G>A (p.Glu249Lys)	KRT36 (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289444	NM_003771.5(KRT36):c.715C>T (p.Arg239Cys)	KRT36 (R239C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454299	NM_003771.5(KRT36):c.707G>A (p.Ser236Asn)	KRT36 (S236N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213933	NM_003771.5(KRT36):c.644C>G (p.Ala215Gly)	KRT36 (A215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612705	NM_003771.5(KRT36):c.605T>G (p.Ile202Ser)	KRT36 (I202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116493	NM_003771.5(KRT36):c.592G>C (p.Gly198Arg)	KRT36 (G198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116492	NM_003771.5(KRT36):c.539C>T (p.Thr180Ile)	KRT36 (T180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116491	NM_003771.5(KRT36):c.511G>A (p.Ala171Thr)	KRT36 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286880	NM_003771.5(KRT36):c.497T>C (p.Leu166Pro)	KRT36 (L166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310392	NM_003771.5(KRT36):c.383G>C (p.Trp128Ser)	KRT36 (W128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777165	NM_003771.5(KRT36):c.377A>G (p.Gln126Arg)	KRT36 (Q126R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777166	NM_003771.5(KRT36):c.356C>T (p.Ala119Val)	KRT36 (A119V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2329264	NM_003771.5(KRT36):c.349G>A (p.Glu117Lys)	KRT36 (E117K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381457	NM_003771.5(KRT36):c.335G>A (p.Arg112His)	KRT36 (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459798	NM_003771.5(KRT36):c.316A>G (p.Asn106Asp)	KRT36 (N106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322006	NM_003771.5(KRT36):c.241G>A (p.Gly81Arg)	KRT36 (G81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457835	NM_003771.5(KRT36):c.236G>T (p.Gly79Val)	KRT36 (G79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280174	NM_003771.5(KRT36):c.221C>A (p.Thr74Asn)	KRT36 (T74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289442	NM_003771.5(KRT36):c.122G>T (p.Ser41Ile)	KRT36 (S41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255768	NM_003771.5(KRT36):c.95G>A (p.Arg32His)	KRT36 (R32H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530182	NM_003771.5(KRT36):c.94C>A (p.Arg32Ser)	KRT36 (R32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467687	NM_003771.5(KRT36):c.64G>A (p.Ala22Thr)	KRT36 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466463	NM_003771.5(KRT36):c.62C>T (p.Thr21Ile)	KRT36 (T21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116490	NM_003771.5(KRT36):c.17G>A (p.Cys6Tyr)	KRT36 (C6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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

ClinVar

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Items: 53