ClinVar for Gene (Select 85280) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3117154	NM_033191.3(KRTAP9-4):c.220T>C (p.Ser74Pro)	KRTAP9-4 (S74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117153	NM_033191.3(KRTAP9-4):c.202A>G (p.Thr68Ala)	KRTAP9-4 (T68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600328	NM_033191.3(KRTAP9-4):c.391C>T (p.Arg131Cys)	KRTAP9-4 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476123	NM_033191.3(KRTAP9-4):c.432T>G (p.Cys144Trp)	KRTAP9-4 (C144W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469599	NM_033191.3(KRTAP9-4):c.352A>C (p.Asn118His)	KRTAP9-4 (N118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397443	NM_033191.3(KRTAP9-4):c.427A>C (p.Thr143Pro)	KRTAP9-4 (T143P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378776	NM_033191.3(KRTAP9-4):c.158G>A (p.Arg53His)	KRTAP9-4 (R53H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336315	NM_033191.3(KRTAP9-4):c.167G>T (p.Cys56Phe)	KRTAP9-4 (C56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315960	NM_033191.3(KRTAP9-4):c.275A>G (p.Gln92Arg)	KRTAP9-4 (Q92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244149	NM_033191.3(KRTAP9-4):c.19C>T (p.Pro7Ser)	KRTAP9-4 (P7S)	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