KPNA2[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 145072	GRCh38/hg38 17q24.2(chr17:67994397-68079905)x1	C17orf58, KPNA2 +4 more	Copy number loss	See cases	GLikely benign
Select item 145071	GRCh38/hg38 17q24.2(chr17:67994397-68079905)x4	C17orf58, KPNA2 +4 more	Copy number gain	See cases	GBenign
Select item 145070	GRCh38/hg38 17q24.2(chr17:67994397-68079905)x3	C17orf58, KPNA2 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 3116176	NM_002266.4(KPNA2):c.38G>A (p.Arg13His)	KPNA2 (R13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273444	NM_002266.4(KPNA2):c.161G>A (p.Ser54Asn)	KPNA2 (S54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238220	NM_002266.4(KPNA2):c.178G>A (p.Ala60Thr)	KPNA2 (A60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116172	NM_002266.4(KPNA2):c.181A>G (p.Thr61Ala)	KPNA2 (T61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485318	NM_002266.4(KPNA2):c.182C>T (p.Thr61Ile)	KPNA2 (T61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313760	NM_002266.4(KPNA2):c.188C>T (p.Pro63Leu)	KPNA2 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116173	NM_002266.4(KPNA2):c.198A>C (p.Glu66Asp)	KPNA2 (E66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116174	NM_002266.4(KPNA2):c.218C>T (p.Thr73Ile)	KPNA2 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145873	GRCh38/hg38 17q24.2(chr17:68041106-68127623)x3	KPNA2, LINC00674 +2 more	Copy number gain	See cases	GLikely benign
Select item 2330228	NM_002266.4(KPNA2):c.368A>G (p.Lys123Arg)	KPNA2 (K123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621933	NM_002266.4(KPNA2):c.428C>T (p.Ala143Val)	KPNA2 (A143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717516	NM_002266.4(KPNA2):c.498A>T (p.Ala166=)	KPNA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623789	NM_002266.4(KPNA2):c.527C>T (p.Ala176Val)	KPNA2 (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249751	NM_002266.4(KPNA2):c.532A>G (p.Ile178Val)	KPNA2 (I178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489532	NM_002266.4(KPNA2):c.584T>G (p.Val195Gly)	KPNA2 (V195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769922	NM_002266.4(KPNA2):c.1152T>C (p.Ser384=)	KPNA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3116170	NM_002266.4(KPNA2):c.1201G>A (p.Val401Met)	KPNA2 (V401M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407988	NM_002266.4(KPNA2):c.1244A>T (p.Tyr415Phe)	KPNA2 (Y415F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116171	NM_002266.4(KPNA2):c.1495G>A (p.Glu499Lys)	KPNA2 (E499K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA10, ABCA5 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 35