ClinVar for MedGen (Select 8288) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267831	46;Y;inv(X)(q27q28)		Inversion	Obesity +14 more	GUncertain significance
Select item 267815	46;X;t(X;5)(p11.23;q35)dn		Translocation	High myopia +14 more	GPathogenic
Select item 242886	NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)	ATP2B3 (K1198N)	Single nucleotide variant (missense variant +1 more)	X-linked progressive cerebellar ataxia	GLikely pathogenic
Select item 56645	NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)	VPS13B (Q407*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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