KRT34[gene] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2350508	NM_001386014.1(KRT34):c.1133G>C (p.Ser378Thr)	KRT34 (S378T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647765	NM_001386014.1(KRT34):c.1116C>T (p.Cys372=)	KRT34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596650	NM_001386014.1(KRT34):c.1116C>G (p.Cys372Trp)	KRT34 (C372W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511322	NM_001386014.1(KRT34):c.1079T>A (p.Leu360Gln)	KRT34 (L360Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516884	NM_001386014.1(KRT34):c.1064C>T (p.Thr355Met)	KRT34 (T355M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509866	NM_001386014.1(KRT34):c.1042C>T (p.Arg348Trp)	KRT34 (R348W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535234	NM_001386014.1(KRT34):c.986G>A (p.Arg329His)	KRT34 (R329H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359986	NM_001386014.1(KRT34):c.985C>T (p.Arg329Cys)	KRT34 (R329C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267211	NM_001386014.1(KRT34):c.977C>T (p.Ala326Val)	KRT34 (A326V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222379	NM_001386014.1(KRT34):c.947G>A (p.Ser316Asn)	KRT34 (S316N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247583	NM_001386014.1(KRT34):c.945G>C (p.Gln315His)	KRT34 (Q315H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364404	NM_001386014.1(KRT34):c.910G>A (p.Glu304Lys)	KRT34 (E304K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589550	NM_001386014.1(KRT34):c.758A>T (p.Glu253Val)	KRT34 (E253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589548	NM_001386014.1(KRT34):c.757G>C (p.Glu253Gln)	KRT34 (E253Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617948	NM_001386014.1(KRT34):c.728T>G (p.Val243Gly)	KRT34 (V243G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383662	NM_001386014.1(KRT34):c.631G>C (p.Val211Leu)	KRT34 (V211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239459	NM_001386014.1(KRT34):c.538G>A (p.Val180Met)	KRT34 (V180M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410288	NM_001386014.1(KRT34):c.488G>A (p.Arg163His)	KRT34 (R163H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510676	NM_001386014.1(KRT34):c.487C>T (p.Arg163Cys)	KRT34 (R163C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507782	NM_001386014.1(KRT34):c.470C>T (p.Ser157Leu)	KRT34 (S157L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363536	NM_001386014.1(KRT34):c.367G>C (p.Glu123Gln)	KRT34, LOC126862563 (E123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214354	NM_001386014.1(KRT34):c.271C>T (p.Arg91Trp)	KRT34, LOC126862563 (R91W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2297094	NM_001386014.1(KRT34):c.157A>G (p.Asn53Asp)	KRT34, LOC126862563 (N53D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495850	NM_001386014.1(KRT34):c.-18A>G	KRT34, LOC126862563	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2254174	NM_001386014.1(KRT34):c.-59A>C	KRT34, LOC126862563	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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: 30