C3809624[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436919	NM_001365999.1(SZT2):c.489G>T (p.Gln163His)	SZT2 (Q163H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 1152525	NM_001365999.1(SZT2):c.546C>T (p.Phe182=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +1 more	GLikely benign
Select item 376947	NM_001365999.1(SZT2):c.616G>A (p.Asp206Asn)	SZT2 (D206N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 857603	NM_001365999.1(SZT2):c.1102C>T (p.Arg368Cys)	SZT2 (R368C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 2690762	NM_001365999.1(SZT2):c.1513C>T (p.Gln505Ter)	SZT2 (Q505*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18	GLikely pathogenic
Select item 430047	NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter)	SZT2 (S788*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 18 +1 more	GPathogenic/Likely pathogenic
Select item 2436921	NM_001365999.1(SZT2):c.2473G>T (p.Val825Phe)	SZT2 (V825F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 589094	NM_001365999.1(SZT2):c.2787C>G (p.Asp929Glu)	SZT2 (D929E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 411937	NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg)	SZT2 (H1298R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1022940	NM_001365999.1(SZT2):c.4136G>A (p.Arg1379Gln)	SZT2 (R1322Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 658922	NM_001365999.1(SZT2):c.4262G>T (p.Cys1421Phe)	SZT2 (C1364F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 846705	NM_001365999.1(SZT2):c.5285G>A (p.Arg1762His)	SZT2 (R1705H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 2436923	NM_001365999.1(SZT2):c.5419A>G (p.Arg1807Gly)	SZT2 (R1750G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 663819	NM_001365999.1(SZT2):c.5426A>T (p.Glu1809Val)	SZT2 (E1752V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 588506	NM_001365999.1(SZT2):c.5551C>T (p.Arg1851Trp)	SZT2 (R1794W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 2690216	NM_001365999.1(SZT2):c.5902C>G (p.Gln1968Glu)	SZT2 (Q1911E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 662175	NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln)	SZT2 (R2203Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 655294	NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val)	SZT2 (A2382V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589892	NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp)	SZT2 (R2435W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 863923	NM_001365999.1(SZT2):c.7516C>T (p.Arg2506Trp)	SZT2 (R2449W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436918	NM_001365999.1(SZT2):c.7861C>T (p.Pro2621Ser)	SZT2 (P2564S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 851439	NM_001365999.1(SZT2):c.8006A>G (p.Asp2669Gly)	SZT2 (D2612G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 589891	NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met)	SZT2 (V2656M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1058926	NM_001365999.1(SZT2):c.8635C>T (p.Arg2879Cys)	SZT2 (R2822C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 589117	NM_001365999.1(SZT2):c.9049A>G (p.Met3017Val)	SZT2 (M2960V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 800214	NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)	SZT2, SZT2-AS1 (R3210H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GConflicting classifications of pathogenicity
Select item 2436920	NM_001365999.1(SZT2):c.9656C>A (p.Pro3219His)	SZT2, SZT2-AS1 (P3162H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2613347	NM_001365999.1(SZT2):c.9722C>A (p.Ala3241Glu)	SZT2, SZT2-AS1 (A3184E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1030485	NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2690217	NM_001365999.1(SZT2):c.10254_10260del (p.Val3419fs)	SZT2 (V3362fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 18	GUncertain significance
Select item 2436917	NM_001365999.1(SZT2):c.*2622C>T	HYI, SZT2	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 18	GUncertain significance

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Items: 31