Related gene-specific medical variations for Gene (Select 54852) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3414052	NM_017705.4(PAQR5):c.551T>C (p.Ile184Thr)	KIF23-AS1, PAQR5 (I184T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3414051	NM_017705.4(PAQR5):c.947C>T (p.Ala316Val)	KIF23-AS1, PAQR5 (A316V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3414049	NM_017705.4(PAQR5):c.592C>T (p.Leu198Phe)	KIF23-AS1, PAQR5 (L198F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3414045	NM_017705.4(PAQR5):c.737G>A (p.Arg246His)	KIF23-AS1, PAQR5 (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304300	NM_017705.4(PAQR5):c.809A>C (p.Glu270Ala)	KIF23-AS1, PAQR5 (E270A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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