"Ambry Genetics"[submitter] AND "SZT2-AS1"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588763	NM_001365999.1(SZT2):c.9460T>C (p.Ser3154Pro)	SZT2, SZT2-AS1 (S3097P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 648206	NM_001365999.1(SZT2):c.9473G>A (p.Arg3158Gln)	SZT2, SZT2-AS1 (R3101Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2234630	NM_001365999.1(SZT2):c.9480G>C (p.Gln3160His)	SZT2, SZT2-AS1 (Q3160H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1418655	NM_001365999.1(SZT2):c.9523C>G (p.Pro3175Ala)	SZT2, SZT2-AS1 (P3175A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
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 2276396	NM_001365999.1(SZT2):c.9562C>G (p.Arg3188Gly)	SZT2, SZT2-AS1 (R3131G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231678	NM_001365999.1(SZT2):c.9569A>G (p.Gln3190Arg)	SZT2, SZT2-AS1 (Q3133R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1038182	NM_001365999.1(SZT2):c.9573C>G (p.Phe3191Leu)	SZT2, SZT2-AS1 (F3134L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 588195	NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=)	SZT2, SZT2-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1027240	NM_001365999.1(SZT2):c.9577G>C (p.Val3193Leu)	SZT2, SZT2-AS1 (V3136L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 702925	NM_001365999.1(SZT2):c.9630C>T (p.Arg3210=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 657121	NM_001365999.1(SZT2):c.9632G>A (p.Arg3211His)	SZT2, SZT2-AS1 (R3154H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 947794	NM_001365999.1(SZT2):c.9638G>A (p.Arg3213Gln)	SZT2, SZT2-AS1 (R3156Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 2604631	NM_001365999.1(SZT2):c.9653T>C (p.Leu3218Pro)	SZT2, SZT2-AS1 (L3161P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 589922	NM_001365999.1(SZT2):c.9665C>T (p.Pro3222Leu)	SZT2, SZT2-AS1 (P3165L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	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 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
Select item 936999	NM_001365999.1(SZT2):c.9727G>A (p.Gly3243Arg)	SZT2, SZT2-AS1 (G3243R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 588940	NM_001365999.1(SZT2):c.9732G>A (p.Pro3244=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 588031	NM_001365999.1(SZT2):c.9781C>T (p.Arg3261Trp)	SZT2, SZT2-AS1 (R3204W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 589002	NM_001365999.1(SZT2):c.9782G>A (p.Arg3261Gln)	SZT2, SZT2-AS1 (R3204Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 696026	NM_001365999.1(SZT2):c.9795G>C (p.Leu3265=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
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)	Developmental and epileptic encephalopathy, 18 +2 more	GConflicting classifications of pathogenicity
Select item 640200	NM_001365999.1(SZT2):c.9800G>A (p.Arg3267Gln)	SZT2, SZT2-AS1 (R3210Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 587837	NM_001365999.1(SZT2):c.9828C>T (p.Asp3276=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 2514765	NM_001365999.1(SZT2):c.9863C>T (p.Pro3288Leu)	SZT2, SZT2-AS1 (P3231L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 955816	NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val)	SZT2, SZT2-AS1 (G3289V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 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
Select item 1767956	NM_001365999.1(SZT2):c.9881G>A (p.Arg3294Gln)	SZT2, SZT2-AS1 (R3237Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GUncertain significance
Select item 590097	NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 660306	NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val)	SZT2, SZT2-AS1 (G3239V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 1768036	NM_001365999.1(SZT2):c.9910C>T (p.Leu3304=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2324332	NM_001365999.1(SZT2):c.9929C>T (p.Ala3310Val)	SZT2, SZT2-AS1 (A3253V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227923	NM_001365999.1(SZT2):c.9931G>A (p.Val3311Ile)	SZT2, SZT2-AS1 (V3254I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588024	NM_001365999.1(SZT2):c.9931G>T (p.Val3311Phe)	SZT2, SZT2-AS1 (V3254F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 665992	NM_001365999.1(SZT2):c.9947T>C (p.Ile3316Thr)	SZT2, SZT2-AS1 (I3316T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2280016	NM_001365999.1(SZT2):c.9974G>T (p.Cys3325Phe)	SZT2, SZT2-AS1 (C472F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1768269	NM_001365999.1(SZT2):c.9978C>T (p.Phe3326=)	SZT2-AS1, SZT2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1768347	NM_001365999.1(SZT2):c.10002C>T (p.Tyr3334=)	SZT2, SZT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 18 +2 more	GLikely benign

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Items: 40