KRT34[gene] - ClinVar

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Items: 43

	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 3289433	NM_001386014.1(KRT34):c.1142C>A (p.Ser381Tyr)	KRT34 (S381Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350508	NM_001386014.1(KRT34):c.1133G>C (p.Ser378Thr)	KRT34 (S378T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2511322	NM_001386014.1(KRT34):c.1079T>A (p.Leu360Gln)	KRT34 (L360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289432	NM_001386014.1(KRT34):c.1070G>A (p.Arg357Gln)	KRT34 (R357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516884	NM_001386014.1(KRT34):c.1064C>T (p.Thr355Met)	KRT34 (T355M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509866	NM_001386014.1(KRT34):c.1042C>T (p.Arg348Trp)	KRT34 (R348W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116471	NM_001386014.1(KRT34):c.1037G>C (p.Arg346Pro)	KRT34 (R346P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535234	NM_001386014.1(KRT34):c.986G>A (p.Arg329His)	KRT34 (R329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359986	NM_001386014.1(KRT34):c.985C>T (p.Arg329Cys)	KRT34 (R329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267211	NM_001386014.1(KRT34):c.977C>T (p.Ala326Val)	KRT34 (A326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222379	NM_001386014.1(KRT34):c.947G>A (p.Ser316Asn)	KRT34 (S316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247583	NM_001386014.1(KRT34):c.945G>C (p.Gln315His)	KRT34 (Q315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364404	NM_001386014.1(KRT34):c.910G>A (p.Glu304Lys)	KRT34 (E304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589550	NM_001386014.1(KRT34):c.758A>T (p.Glu253Val)	KRT34 (E253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589548	NM_001386014.1(KRT34):c.757G>C (p.Glu253Gln)	KRT34 (E253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617948	NM_001386014.1(KRT34):c.728T>G (p.Val243Gly)	KRT34 (V243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383662	NM_001386014.1(KRT34):c.631G>C (p.Val211Leu)	KRT34 (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116477	NM_001386014.1(KRT34):c.607T>C (p.Ser203Pro)	KRT34 (S203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116476	NM_001386014.1(KRT34):c.577A>C (p.Asn193His)	KRT34 (N193H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239459	NM_001386014.1(KRT34):c.538G>A (p.Val180Met)	KRT34 (V180M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289429	NM_001386014.1(KRT34):c.499G>A (p.Asp167Asn)	KRT34 (D167N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410288	NM_001386014.1(KRT34):c.488G>A (p.Arg163His)	KRT34 (R163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510676	NM_001386014.1(KRT34):c.487C>T (p.Arg163Cys)	KRT34 (R163C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507782	NM_001386014.1(KRT34):c.470C>T (p.Ser157Leu)	KRT34 (S157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289431	NM_001386014.1(KRT34):c.392T>C (p.Ile131Thr)	KRT34, LOC126862563 (I131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116475	NM_001386014.1(KRT34):c.371A>G (p.Asn124Ser)	KRT34, LOC126862563 (N124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363536	NM_001386014.1(KRT34):c.367G>C (p.Glu123Gln)	KRT34, LOC126862563 (E123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289434	NM_001386014.1(KRT34):c.325A>C (p.Thr109Pro)	KRT34, LOC126862563 (T109P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214354	NM_001386014.1(KRT34):c.271C>T (p.Arg91Trp)	KRT34, LOC126862563 (R91W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297094	NM_001386014.1(KRT34):c.157A>G (p.Asn53Asp)	KRT34, LOC126862563 (N53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116473	NM_001386014.1(KRT34):c.53C>T (p.Ser18Phe)	KRT34, LOC126862563 (S18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289430	NM_001386014.1(KRT34):c.44G>C (p.Ser15Thr)	KRT34, LOC126862563 (S15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116472	NM_001386014.1(KRT34):c.26G>A (p.Ser9Asn)	KRT34, LOC126862563 (S9N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495850	NM_001386014.1(KRT34):c.-18A>G	KRT34, LOC126862563	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2254174	NM_001386014.1(KRT34):c.-59A>C	KRT34, LOC126862563	Single nucleotide variant (5 prime UTR 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

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Items: 43