"MXI1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037741	NM_130439.3(MXI1):c.83C>G (p.Pro28Arg)	MXI1 (P28R)	Single nucleotide variant (missense variant)	MXI1-related disorder	GBenign
Select item 3052445	NM_130439.3(MXI1):c.127G>A (p.Ala43Thr)	MXI1 (A43T)	Single nucleotide variant (missense variant)	MXI1-related disorder	GLikely benign
Select item 3045030	NM_130439.3(MXI1):c.291C>T (p.Tyr97=)	MXI1	Single nucleotide variant (5 prime UTR variant +1 more)	MXI1-related disorder	GLikely benign
Select item 3037977	NM_130439.3(MXI1):c.448C>T (p.Leu150=)	MXI1	Single nucleotide variant (synonymous variant)	MXI1-related disorder	GBenign
Select item 3037339	NM_130439.3(MXI1):c.725-5G>T	MXI1	Single nucleotide variant (intron variant)	MXI1-related disorder	GBenign

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