ClinVar (all) for Orgtrack (Select 509708) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341085	NM_001365999.1(SZT2):c.8589del (p.His2863fs)	SZT2 (H2806fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 3341084	NM_022455.5(NSD1):c.70G>T (p.Ala24Ser)	NSD1 (A24S)	Single nucleotide variant (5 prime UTR variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 3341083	NM_017791.3(FLVCR2):c.1021-7T>G	FLVCR2	Single nucleotide variant (intron variant)	Fowler syndrome	GUncertain significance
Select item 3341082	NM_017791.3(FLVCR2):c.191del (p.Leu64fs)	FLVCR2, FLVCR2-AS1 (L64fs)	Deletion (non-coding transcript variant +1 more)	Fowler syndrome	GLikely pathogenic
Select item 3341081	NM_032119.4(ADGRV1):c.2257_2258del (p.Gln753fs)	ADGRV1 (Q753fs)	Deletion (frameshift variant +1 more)	Febrile seizures, familial, 4	GLikely pathogenic
Select item 3341080	NM_013391.3(DMGDH):c.236T>G (p.Leu79Arg)	DMGDH (L79R)	Single nucleotide variant (missense variant +1 more)	Dimethylglycine dehydrogenase deficiency	GLikely pathogenic
Select item 3341079	NM_013391.3(DMGDH):c.269G>A (p.Trp90Ter)	DMGDH (W90*)	Single nucleotide variant (nonsense +1 more)	Dimethylglycine dehydrogenase deficiency	GLikely pathogenic
Select item 940835	NM_001365999.1(SZT2):c.9776G>A (p.Arg3259Gln)	SZT2, SZT2-AS1 (R3259Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance

ClinVar