KRTAP9-2[gene] - ClinVar

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Items: 26

	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 2288448	NM_031961.3(KRTAP9-2):c.5C>T (p.Thr2Ile)	KRTAP9-2 (T2I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361699	NM_031961.3(KRTAP9-2):c.11G>A (p.Cys4Tyr)	KRTAP9-2 (C4Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623454	NM_031961.3(KRTAP9-2):c.25T>A (p.Cys9Ser)	KRTAP9-2 (C9S)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2594704	NM_031961.3(KRTAP9-2):c.41G>A (p.Cys14Tyr)	KRTAP9-2 (C14Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519114	NM_031961.3(KRTAP9-2):c.46A>G (p.Thr16Ala)	KRTAP9-2 (T16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528793	NM_031961.3(KRTAP9-2):c.138C>A (p.Ser46Arg)	KRTAP9-2 (S46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117140	NM_031961.3(KRTAP9-2):c.158G>A (p.Arg53His)	KRTAP9-2 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117141	NM_031961.3(KRTAP9-2):c.218C>A (p.Thr73Asn)	KRTAP9-2 (T73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117142	NM_031961.3(KRTAP9-2):c.233C>T (p.Pro78Leu)	KRTAP9-2 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324812	NM_031961.3(KRTAP9-2):c.246C>G (p.Ser82Arg)	KRTAP9-2 (S82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218705	NM_031961.3(KRTAP9-2):c.257G>A (p.Cys86Tyr)	KRTAP9-2 (C86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313986	NM_031961.3(KRTAP9-2):c.263C>T (p.Pro88Leu)	KRTAP9-2 (P88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221853	NM_031961.3(KRTAP9-2):c.317G>T (p.Gly106Val)	KRTAP9-2 (G106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316869	NM_031961.3(KRTAP9-2):c.324C>A (p.Ser108Arg)	KRTAP9-2 (S108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519203	NM_031961.3(KRTAP9-2):c.373A>G (p.Thr125Ala)	KRTAP9-2 (T125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457543	NM_031961.3(KRTAP9-2):c.374C>G (p.Thr125Ser)	KRTAP9-2 (T125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562148	NM_031961.3(KRTAP9-2):c.376G>C (p.Val126Leu)	KRTAP9-2 (V126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553777	NM_031961.3(KRTAP9-2):c.458C>T (p.Thr153Ile)	KRTAP9-2 (T153I)	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: 26