Related gene-specific medical variations for Gene (Select 100996928) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121545	NM_016019.5(LUC7L2):c.908A>G (p.His303Arg)	FMC1-LUC7L2, LOC100129148 +1 more (H302R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121544	NM_016019.5(LUC7L2):c.889C>T (p.Arg297Trp)	FMC1-LUC7L2, LOC100129148 +1 more (R297W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121543	NM_016019.5(LUC7L2):c.488G>A (p.Arg163Gln)	FMC1-LUC7L2, LUC7L2 (R160Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121542	NM_016019.5(LUC7L2):c.1033T>A (p.Leu345Ile)	FMC1-LUC7L2, LOC100129148 +1 more (L336I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540014	NM_016019.5(LUC7L2):c.737G>A (p.Arg246Gln)	FMC1-LUC7L2, LUC7L2 (R246Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513162	NM_016019.5(LUC7L2):c.928C>T (p.Arg310Cys)	FMC1-LUC7L2, LOC100129148 +1 more (R309C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509244	NM_016019.5(LUC7L2):c.959G>A (p.Arg320Gln)	FMC1-LUC7L2, LOC100129148 +1 more (R317Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503066	NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)	FMC1, FMC1-LUC7L2 +1 more (Y35C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GLikely pathogenic
Select item 2321384	NM_016019.5(LUC7L2):c.1105C>T (p.Arg369Trp)	LOC100129148, LUC7L2 +1 more (R368W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301420	NM_016019.5(LUC7L2):c.1160G>A (p.Arg387His)	FMC1-LUC7L2, LOC100129148 +1 more (R384H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281780	NM_016019.5(LUC7L2):c.373C>T (p.Arg125Cys)	FMC1-LUC7L2, LUC7L2 (R122C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 560143	NM_016019.5(LUC7L2):c.367-443_763del	FMC1-LUC7L2, LUC7L2	Deletion (splice acceptor variant +1 more)	not provided	GUncertain significance