C3809624[trait identifier] AND "New York Genome Center"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098584	NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu)	SZT2 (V1063L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1679755	NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser)	SZT2 (P1205S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 860118	NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln)	SZT2 (R1206Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1184287	NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu)	SZT2 (A1288E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 642190	NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser)	SZT2 (P1598S +1 more)	Single nucleotide variant (missense variant)	Seizure +3 more	GUncertain significance
Select item 589554	NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile)	SZT2 (L1601I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 588078	NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln)	SZT2 (R2005Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 590023	NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val)	SZT2 (A2055V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 662175	NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln)	SZT2 (R2203Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1098635	NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter)	SZT2 (R2269* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18 +1 more	GPathogenic/Likely pathogenic
Select item 1036451	NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His)	SZT2 (R2505H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 864181	NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys)	SZT2 (R2471C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 834478	NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp)	SZT2 (R3130W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 996846	NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter)	SZT2, SZT2-AS1 (R3202* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 846979	NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp)	SZT2, SZT2-AS1 (R3210W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 844834	NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys)	SZT2, SZT2-AS1 (R3241C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 1058773	NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg)	SZT2, SZT2-AS1 (K3257R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 977355	NM_001365999.1(SZT2):c.10262A>G (p.Asn3421Ser)	SZT2 (N3364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1696576	NM_001365999.1(SZT2):c.*1719del	HYI, SZT2	Deletion (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance