ClinVar for Gene (Select 653240) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289707	NM_033059.4(KRTAP4-11):c.25G>A (p.Val9Met)	KRTAP4-11 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289706	NM_033059.4(KRTAP4-11):c.259C>T (p.Pro87Ser)	KRTAP4-11 (P87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289705	NM_033059.4(KRTAP4-11):c.163T>A (p.Cys55Ser)	KRTAP4-11 (C55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289704	NM_033059.4(KRTAP4-11):c.251G>A (p.Cys84Tyr)	KRTAP4-11 (C84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289703	NM_033059.4(KRTAP4-11):c.302G>A (p.Arg101His)	KRTAP4-11 (R101H)	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 3117041	NM_033059.4(KRTAP4-11):c.83G>A (p.Ser28Asn)	KRTAP4-11 (S28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117040	NM_033059.4(KRTAP4-11):c.564G>C (p.Leu188Phe)	KRTAP4-11 (L188F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117039	NM_033059.4(KRTAP4-11):c.466C>T (p.Arg156Cys)	KRTAP4-11 (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117038	NM_033059.4(KRTAP4-11):c.414C>A (p.Ser138Arg)	KRTAP4-11 (S138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117037	NM_033059.4(KRTAP4-11):c.331C>T (p.Arg111Cys)	KRTAP4-11 (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117036	NM_033059.4(KRTAP4-11):c.227G>A (p.Arg76His)	KRTAP4-11 (R76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117035	NM_033059.4(KRTAP4-11):c.215C>A (p.Ser72Tyr)	KRTAP4-11 (S72Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117034	NM_033059.4(KRTAP4-11):c.157C>A (p.Gln53Lys)	KRTAP4-11 (Q53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681364	NM_033059.4(KRTAP4-11):c.249C>G (p.Ser83Arg)	KRTAP4-11 (S83R)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2596845	NM_033059.4(KRTAP4-11):c.170C>T (p.Ser57Phe)	KRTAP4-11 (S57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569140	NM_033059.4(KRTAP4-11):c.353G>C (p.Ser118Thr)	KRTAP4-11 (S118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475008	NM_033059.4(KRTAP4-11):c.368A>C (p.Gln123Pro)	KRTAP4-11 (Q123P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472070	NM_033059.4(KRTAP4-11):c.204A>T (p.Arg68Ser)	KRTAP4-11 (R68S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469875	NM_033059.4(KRTAP4-11):c.320C>T (p.Ser107Phe)	KRTAP4-11 (S107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389466	NM_033059.4(KRTAP4-11):c.196C>T (p.Arg66Cys)	KRTAP4-11 (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377402	NM_033059.4(KRTAP4-11):c.394C>A (p.Pro132Thr)	KRTAP4-11 (P132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258323	NM_033059.4(KRTAP4-11):c.101G>A (p.Cys34Tyr)	KRTAP4-11 (C34Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232747	NM_033059.4(KRTAP4-11):c.127A>G (p.Ser43Gly)	KRTAP4-11 (S43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229939	NM_033059.4(KRTAP4-11):c.301C>T (p.Arg101Cys)	KRTAP4-11 (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208823	NM_033059.4(KRTAP4-11):c.467G>A (p.Arg156His)	KRTAP4-11 (R156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
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 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 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

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Links from Gene

Items: 33