KRT36[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	AARSD1, AATF +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53