ClinVar for Gene (Select 145694) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2834647	NM_001367805.3(KIF23):c.11+17C>G	KIF23, KIF23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2474972	NM_017705.4(PAQR5):c.610C>G (p.Leu204Val)	KIF23-AS1, PAQR5 (L204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459289	NM_017705.4(PAQR5):c.605A>G (p.Tyr202Cys)	KIF23-AS1, PAQR5 (Y202C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2324891	NM_017705.4(PAQR5):c.520G>A (p.Glu174Lys)	KIF23-AS1, PAQR5 (E174K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2005908	NM_001367805.3(KIF23):c.11+8C>A	KIF23, KIF23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1693648	NM_001367805.3(KIF23):c.-29C>T	KIF23, KIF23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1239833	NM_001367805.3(KIF23):c.11+62_11+82dup	KIF23, KIF23-AS1 +1 more	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 157350	NM_001104554.1(PAQR5):c.88_39158dup	KIF23, KIF23-AS1 +3 more	Duplication	Large for gestational age	Gnot provided
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	See cases	GPathogenic