ClinVar for Gene (Select 3837) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289255	NM_002265.6(KPNB1):c.2555G>A (p.Arg852Lys)	KPNB1 (R852K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116194	NM_002265.6(KPNB1):c.809G>A (p.Ser270Asn)	KPNB1 (S125N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116193	NM_002265.6(KPNB1):c.428C>T (p.Thr143Ile)	KPNB1 (T143I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3116192	NM_002265.6(KPNB1):c.191C>T (p.Ser64Phe)	KPNB1 (S64F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2558207	NM_002265.6(KPNB1):c.1963G>A (p.Gly655Ser)	KPNB1 (G510S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2475864	NM_002265.6(KPNB1):c.1490A>C (p.Tyr497Ser)	KPNB1 (Y352S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325458	NM_002265.6(KPNB1):c.530T>C (p.Ile177Thr)	KPNB1 (I177T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239703	NM_002265.6(KPNB1):c.746A>G (p.Tyr249Cys)	KPNB1 (Y104C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719520	NM_002265.6(KPNB1):c.1983T>C (p.Tyr661=)	KPNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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