C3809624[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584876	NM_001365999.1(SZT2):c.1108_1111del (p.Phe370fs)	SZT2 (F370fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 642409	NM_001365999.1(SZT2):c.3689C>T (p.Ala1230Val)	SZT2 (A1173V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3236411	NM_001365999.1(SZT2):c.4401+1G>A	SZT2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 960167	NM_001365999.1(SZT2):c.5088+2T>C	SZT2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely pathogenic
Select item 2585049	NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs)	SZT2 (D2497fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 967502	NM_001365999.1(SZT2):c.8840G>A (p.Arg2947Gln)	SZT2 (R2947Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar