ClinVar for MedGen (Select 462757) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441030	NM_173812.5(DPY19L2):c.1816C>T (p.Arg606Cys)	DPY19L2 (R606C)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GUncertain significance
Select item 1709852	NM_173812.5(DPY19L2):c.1616A>G (p.His539Arg)	DPY19L2 (H539R)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GUncertain significance
Select item 1676200	NM_173812.5(DPY19L2):c.893G>A (p.Arg298His)	DPY19L2	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GPathogenic
Select item 101509	NM_173812.5(DPY19L2):c.1218+1G>A	DPY19L2	Single nucleotide variant (splice donor variant)	Spermatogenic failure 9	GPathogenic
Select item 101508	NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys)	DPY19L2 (R298C)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GPathogenic
Select item 101507	NG_031909.1:g.(12232_26209)_(29173_47048)del	DPY19L2	Deletion	Spermatogenic failure 9	GPathogenic
Select item 101506	NM_173812.5(DPY19L2):c.1183del (p.Ser395fs)	DPY19L2 (S395fs)	Deletion (frameshift variant)	Spermatogenic failure 9	GPathogenic
Select item 101505	NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter)	DPY19L2 (K680*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 101504	NM_173812.5(DPY19L2):c.869G>A (p.Arg290His)	DPY19L2 (R290H)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GPathogenic
Select item 31083	NC_000012.12:g.(?_63558913)_(63669201_?)del	DPY19L2, LOC130008194	Deletion	Spermatogenic failure 9	GPathogenic