"KRTAP4-6"[gene] - ClinVar

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Items: 36

	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 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
Select item 2467781	NM_030976.2(KRTAP4-6):c.556C>T (p.Arg186Cys)	KRTAP4-6 (R186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289909	NM_030976.2(KRTAP4-6):c.530G>A (p.Arg177Gln)	KRTAP4-6 (R177Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289723	NM_030976.2(KRTAP4-6):c.514C>A (p.Arg172Ser)	KRTAP4-6 (R172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532109	NM_030976.2(KRTAP4-6):c.497G>A (p.Arg166His)	KRTAP4-6 (R166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117066	NM_030976.2(KRTAP4-6):c.485C>T (p.Pro162Leu)	KRTAP4-6 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117065	NM_030976.2(KRTAP4-6):c.481C>T (p.Arg161Cys)	KRTAP4-6 (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334769	NM_030976.2(KRTAP4-6):c.452G>T (p.Arg151Leu)	KRTAP4-6 (R151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511503	NM_030976.2(KRTAP4-6):c.451C>T (p.Arg151Cys)	KRTAP4-6 (R151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117064	NM_030976.2(KRTAP4-6):c.412A>G (p.Thr138Ala)	KRTAP4-6 (T138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289717	NM_030976.2(KRTAP4-6):c.347G>A (p.Arg116His)	KRTAP4-6 (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289718	NM_030976.2(KRTAP4-6):c.253T>C (p.Cys85Arg)	KRTAP4-6 (C85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279029	NM_030976.2(KRTAP4-6):c.242G>A (p.Arg81His)	KRTAP4-6 (R81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597999	NM_030976.2(KRTAP4-6):c.218C>T (p.Thr73Ile)	KRTAP4-6 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289720	NM_030976.2(KRTAP4-6):c.206G>A (p.Cys69Tyr)	KRTAP4-6 (C69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289722	NM_030976.2(KRTAP4-6):c.200C>G (p.Pro67Arg)	KRTAP4-6 (P67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536543	NM_030976.2(KRTAP4-6):c.185G>A (p.Arg62His)	KRTAP4-6 (R62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329428	NM_030976.2(KRTAP4-6):c.184C>T (p.Arg62Cys)	KRTAP4-6 (R62C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530068	NM_030976.2(KRTAP4-6):c.146A>G (p.Gln49Arg)	KRTAP4-6 (Q49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289719	NM_030976.2(KRTAP4-6):c.125T>C (p.Val42Ala)	KRTAP4-6 (V42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476706	NM_030976.2(KRTAP4-6):c.115A>C (p.Ser39Arg)	KRTAP4-6 (S39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357752	NM_030976.2(KRTAP4-6):c.110G>A (p.Arg37His)	KRTAP4-6 (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590877	NM_030976.2(KRTAP4-6):c.109C>T (p.Arg37Cys)	KRTAP4-6 (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117067	NM_030976.2(KRTAP4-6):c.92G>A (p.Cys31Tyr)	KRTAP4-6 (C31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302025	NM_030976.2(KRTAP4-6):c.70A>C (p.Ser24Arg)	KRTAP4-6 (S24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603973	NM_030976.2(KRTAP4-6):c.56C>A (p.Thr19Asn)	KRTAP4-6 (T19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401836	NM_030976.2(KRTAP4-6):c.41G>A (p.Gly14Asp)	KRTAP4-6 (G14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242071	NM_030976.2(KRTAP4-6):c.25G>A (p.Val9Ile)	KRTAP4-6 (V9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231221	NM_030976.2(KRTAP4-6):c.14G>A (p.Cys5Tyr)	KRTAP4-6 (C5Y)	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 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

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Items: 36