ClinVar for Gene (Select 85294) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289688	NM_033184.4(KRTAP2-4):c.191G>A (p.Cys64Tyr)	KRTAP2-4 (C64Y)	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 3117005	NM_033184.4(KRTAP2-4):c.46G>A (p.Gly16Arg)	KRTAP2-4 (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117004	NM_033184.4(KRTAP2-4):c.368G>A (p.Cys123Tyr)	KRTAP2-4 (C123Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117003	NM_033184.4(KRTAP2-4):c.151A>G (p.Thr51Ala)	KRTAP2-4 (T51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117001	NM_033184.4(KRTAP2-4):c.140T>C (p.Val47Ala)	KRTAP2-4 (V47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593685	NM_033184.4(KRTAP2-4):c.360C>A (p.Ser120Arg)	KRTAP2-4 (S120R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542604	NM_033184.4(KRTAP2-4):c.241C>A (p.Pro81Thr)	KRTAP2-4 (P81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542596	NM_033184.4(KRTAP2-4):c.240C>G (p.Cys80Trp)	KRTAP2-4 (C80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542585	NM_033184.4(KRTAP2-4):c.238T>A (p.Cys80Ser)	KRTAP2-4 (C80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472912	NM_033184.4(KRTAP2-4):c.323G>A (p.Cys108Tyr)	KRTAP2-4 (C108Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352594	NM_033184.4(KRTAP2-4):c.197C>A (p.Pro66His)	KRTAP2-4 (P66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331423	NM_033184.4(KRTAP2-4):c.275G>A (p.Cys92Tyr)	KRTAP2-4 (C92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327916	NM_033184.4(KRTAP2-4):c.245C>T (p.Ser82Leu)	KRTAP2-4 (S82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276434	NM_033184.4(KRTAP2-4):c.20G>C (p.Gly7Ala)	KRTAP2-4 (G7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270326	NM_033184.4(KRTAP2-4):c.155G>A (p.Arg52His)	KRTAP2-4 (R52H)	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: 23