"FBRSL1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633161	NM_001367871.1(FBRSL1):c.430C>T (p.Gln144Ter)	FBRSL1 (Q144* +1 more)	Single nucleotide variant (nonsense +1 more)	FBRSL1-related disorder	GUncertain significance
Select item 3046268	NM_001367871.1(FBRSL1):c.845G>A (p.Arg282His)	FBRSL1 (R282H)	Single nucleotide variant (missense variant)	FBRSL1-related disorder	GLikely benign
Select item 2632024	NM_001367871.1(FBRSL1):c.1886G>C (p.Ser629Thr)	FBRSL1 (S422T +3 more)	Single nucleotide variant (missense variant)	FBRSL1-related disorder	GUncertain significance
Select item 2630084	NM_001367871.1(FBRSL1):c.1912+1G>A	FBRSL1	Single nucleotide variant (splice donor variant)	FBRSL1-related disorder	GUncertain significance
Select item 3037381	NM_001367871.1(FBRSL1):c.2524_2538del (p.Arg842_Gly846del)	FBRSL1	Deletion (inframe deletion)	FBRSL1-related disorder +1 more	GBenign/Likely benign

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