KRTAP2-2[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +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 2530067	NM_033032.3(KRTAP2-2):c.368G>C (p.Cys123Ser)	KRTAP2-2 (C123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290562	NM_033032.3(KRTAP2-2):c.337C>G (p.Pro113Ala)	KRTAP2-2 (P113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116999	NM_033032.3(KRTAP2-2):c.283G>A (p.Ala95Thr)	KRTAP2-2 (A95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294283	NM_033032.3(KRTAP2-2):c.254C>T (p.Thr85Met)	KRTAP2-2 (T85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605779	NM_033032.3(KRTAP2-2):c.241C>A (p.Pro81Thr)	KRTAP2-2 (P81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605778	NM_033032.3(KRTAP2-2):c.240C>G (p.Cys80Trp)	KRTAP2-2 (C80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605777	NM_033032.3(KRTAP2-2):c.238T>A (p.Cys80Ser)	KRTAP2-2 (C80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116998	NM_033032.3(KRTAP2-2):c.230T>C (p.Ile77Thr)	KRTAP2-2 (I77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533909	NM_033032.3(KRTAP2-2):c.47G>C (p.Gly16Ala)	KRTAP2-2 (G16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342736	NM_033032.3(KRTAP2-2):c.7G>A (p.Gly3Ser)	KRTAP2-2 (G3S)	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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic