ClinVar for Gene (Select 85289) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289716	NM_033188.4(KRTAP4-5):c.179G>A (p.Cys60Tyr)	KRTAP4-5 (C60Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289715	NM_033188.4(KRTAP4-5):c.410A>G (p.Glu137Gly)	KRTAP4-5 (E137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289714	NM_033188.4(KRTAP4-5):c.506C>T (p.Thr169Ile)	KRTAP4-5 (T169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289713	NM_033188.4(KRTAP4-5):c.7A>G (p.Ser3Gly)	KRTAP4-5 (S3G)	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 3117063	NM_033188.4(KRTAP4-5):c.169C>T (p.His57Tyr)	KRTAP4-5 (H57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117062	NM_033188.4(KRTAP4-5):c.161C>A (p.Thr54Asn)	KRTAP4-5 (T54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117061	NM_033188.4(KRTAP4-5):c.110G>A (p.Arg37His)	KRTAP4-5 (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647757	NM_033188.4(KRTAP4-5):c.426C>T (p.Arg142=)	KRTAP4-5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609492	NM_033188.4(KRTAP4-5):c.132G>T (p.Gln44His)	KRTAP4-5 (Q44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486940	NM_033188.4(KRTAP4-5):c.421T>A (p.Cys141Ser)	KRTAP4-5 (C141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469368	NM_033188.4(KRTAP4-5):c.458G>A (p.Arg153Gln)	KRTAP4-5 (R153Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352936	NM_033188.4(KRTAP4-5):c.269G>A (p.Cys90Tyr)	KRTAP4-5 (C90Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350509	NM_033188.4(KRTAP4-5):c.425G>A (p.Arg142His)	KRTAP4-5 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288983	NM_033188.4(KRTAP4-5):c.406T>G (p.Cys136Gly)	KRTAP4-5 (C136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239939	NM_033188.4(KRTAP4-5):c.209G>T (p.Cys70Phe)	KRTAP4-5 (C70F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216715	NM_033188.4(KRTAP4-5):c.332G>A (p.Cys111Tyr)	KRTAP4-5 (C111Y)	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: 24