ClinVar (all) for Orgtrack (Select 508981) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582788	NM_003791.4(MBTPS1):c.2831+5G>T	MBTPS1	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia, kondo-fu type	GUncertain significance
Select item 2582787	NM_003791.4(MBTPS1):c.2255G>T (p.Gly752Val)	MBTPS1 (G752V)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, kondo-fu type	GLikely pathogenic
Select item 2445458	NM_004640.7(DDX39B):c.433-1G>T	ATP6V1G2-DDX39B, DDX39B	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2445457	NM_004640.7(DDX39B):c.132C>G (p.Ser44Arg)	DDX39B, ATP6V1G2-DDX39B (S44R)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2445456	NM_004640.7(DDX39B):c.368G>A (p.Arg123Gln)	DDX39B, ATP6V1G2-DDX39B (R123Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2445455	NM_004640.7(DDX39B):c.275G>A (p.Gly92Asp)	ATP6V1G2-DDX39B, DDX39B (G92D)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2445454	NM_004640.7(DDX39B):c.109G>T (p.Gly37Cys)	ATP6V1G2-DDX39B, DDX39B (G37C)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GUncertain significance

ClinVar