C3809624[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 661202	NM_001365999.1(SZT2):c.653C>T (p.Ser218Leu)	SZT2 (S218L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 411925	NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly)	SZT2 (S785G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 241031	NM_001365999.1(SZT2):c.2631C>T (p.Thr877=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 706106	NM_001365999.1(SZT2):c.2875C>T (p.Leu959=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1351518	NM_001365999.1(SZT2):c.3019A>T (p.Met1007Leu)	SZT2 (M1007L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 699190	NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala)	SZT2 (P1119A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 411945	NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp)	SZT2 (G1114W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1410681	NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter)	SZT2 (R1157* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 411923	NM_001365999.1(SZT2):c.4342C>T (p.Arg1448Cys)	SZT2 (R1391C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GConflicting classifications of pathogenicity
Select item 241034	NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)	SZT2 (V1454I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +3 more	GBenign/Likely benign
Select item 586765	NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=)	SZT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 411931	NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met)	SZT2 (T1574M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GConflicting classifications of pathogenicity
Select item 642190	NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser)	SZT2 (P1598S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +3 more	GUncertain significance
Select item 416955	NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=)	SZT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 212364	NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=)	SZT2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 18 +2 more	GConflicting classifications of pathogenicity
Select item 854733	NM_001365999.1(SZT2):c.5813T>C (p.Ile1938Thr)	SZT2 (I1938T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 411948	NM_001365999.1(SZT2):c.5906G>A (p.Arg1969Gln)	SZT2 (R1912Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GUncertain significance
Select item 588078	NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln)	SZT2 (R2005Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 416972	NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln)	SZT2 (R2362Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1190676	NM_001365999.1(SZT2):c.7874-16C>G	SZT2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 18 +1 more	GBenign/Likely benign
Select item 423419	NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr)	SZT2 (H2925Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +1 more	GConflicting classifications of pathogenicity
Select item 1002758	NM_001365999.1(SZT2):c.9731C>T (p.Pro3244Leu)	SZT2, SZT2-AS1 (P3187L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 588266	NM_001365999.1(SZT2):c.9880C>T (p.Arg3294Trp)	SZT2, SZT2-AS1 (R3237W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance

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Items: 24