ClinVar for MedGen (Select 473122) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813001	NM_030632.3(ASXL3):c.4376del (p.Gly1459fs)	ASXL3 (G1459fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 160161	NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	TUBA1A (R2H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic