Related gene-specific medical variations for Gene (Select 57221) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209020	NM_021635.3(PBOV1):c.143T>C (p.Phe48Ser)	ARFGEF3, PBOV1 (F48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656937	NM_021635.3(PBOV1):c.93C>T (p.Asn31=)	ARFGEF3, PBOV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621904	NM_021635.3(PBOV1):c.118G>A (p.Ala40Thr)	ARFGEF3, PBOV1 (A40T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590740	NM_021635.3(PBOV1):c.175G>A (p.Val59Ile)	ARFGEF3, PBOV1 (V59I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457522	NM_021635.3(PBOV1):c.233A>G (p.His78Arg)	ARFGEF3, PBOV1 (H78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318401	NM_021635.3(PBOV1):c.170A>G (p.Glu57Gly)	ARFGEF3, PBOV1 (E57G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271073	NM_021635.3(PBOV1):c.233A>T (p.His78Leu)	ARFGEF3, PBOV1 (H78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 394041	GRCh37/hg19 6q23.3(chr6:138537851-138539113)x1	ARFGEF3, PBOV1	Copy number loss	See cases	GUncertain significance

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