"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695990	NM_001365999.1(SZT2):c.327+7G>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 416953	NM_001365999.1(SZT2):c.1791C>T (p.His597=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign
Select item 241030	NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys)	SZT2 (E860K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +3 more	GBenign
Select item 546595	NM_001365999.1(SZT2):c.2955C>T (p.Cys985=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GBenign/Likely benign
Select item 416959	NM_001365999.1(SZT2):c.3309+9C>T	SZT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 586766	NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)	SZT2 (S1576L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 586769	NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 589358	NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 696936	NM_001365999.1(SZT2):c.8316G>A (p.Thr2772=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 73815	NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu)	SZT2 (P2844L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 695934	NM_001365999.1(SZT2):c.9555C>T (p.His3185=)	SZT2, SZT2-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 416973	NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign