C3150731[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139264	NM_001130438.3(SPTAN1):c.652-6G>A	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +3 more	GBenign/Likely benign
Select item 139265	NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign/Likely benign
Select item 576053	NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)	SPTAN1 (R259H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 139267	NM_001130438.3(SPTAN1):c.931-16C>T	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +3 more	GBenign/Likely benign
Select item 159993	NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)	SPTAN1 (S435A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 159998	NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)	SPTAN1 (R566Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 588719	NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 139276	NM_001130438.3(SPTAN1):c.2194-13T>G	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +3 more	GBenign
Select item 207268	NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn)	SPTAN1 (D782N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign/Likely benign
Select item 842016	NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)	SPTAN1 (I958M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 139285	NM_001130438.3(SPTAN1):c.3520-14C>G	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +3 more	GBenign/Likely benign
Select item 160012	NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	SPTAN1 (Q1400L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +3 more	GConflicting classifications of pathogenicity
Select item 569671	NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)	SPTAN1 (E1415Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 196861	NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	SPTAN1 (A1428G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign/Likely benign
Select item 378660	NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 139294	NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign
Select item 139303	NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 139305	NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +4 more	GBenign
Select item 461237	NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln)	SPTAN1 (R2419Q +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 207310	NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)	SPTAN1 (R2440Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 207365	NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)	SPTAN1 (D2466N +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

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Items: 21