Related gene-specific medical variations for Gene (Select 6709) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065093	NM_001130438.3(SPTAN1):c.7174T>G (p.Ser2392Ala)	SPTAN1 (S2367A +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 3065071	NM_001130438.3(SPTAN1):c.3886G>A (p.Ala1296Thr)	SPTAN1 (A1276T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2690110	NM_001130438.3(SPTAN1):c.3155+3A>G	SPTAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2582657	NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)	SPTAN1 (S658R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2582524	NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)	SPTAN1 (H1831fs +4 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 2576149	NM_001130438.3(SPTAN1):c.1879C>T (p.Arg627Ter)	SPTAN1 (R627* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2442060	NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)	SPTAN1 (F1430L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2436402	NM_001130438.3(SPTAN1):c.1306G>C (p.Asp436His)	SPTAN1 (D436H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436401	NM_001130438.3(SPTAN1):c.6171G>A (p.Lys2057=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2436400	NM_001130438.3(SPTAN1):c.3391AAG[1] (p.Lys1132del)	SPTAN1 (K1112del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2436399	NM_001130438.3(SPTAN1):c.4250A>G (p.Lys1417Arg)	SPTAN1 (K1397R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436398	NM_001130438.3(SPTAN1):c.2620G>A (p.Ala874Thr)	SPTAN1 (A874T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436397	NM_001130438.3(SPTAN1):c.5248C>T (p.Arg1750Cys)	SPTAN1 (R1725C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436396	NM_001130438.3(SPTAN1):c.5459C>T (p.Ala1820Val)	SPTAN1 (A1795V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436395	NM_001130438.3(SPTAN1):c.296T>C (p.Ile99Thr)	SPTAN1 (I111T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436394	NM_001130438.3(SPTAN1):c.4759-7T>C	SPTAN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436391	NM_001130438.3(SPTAN1):c.6918C>A (p.Gly2306=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2436390	NM_001130438.3(SPTAN1):c.6479G>A (p.Arg2160His)	SPTAN1 (R2135H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430075	NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)	SPTAN1 (N1034K +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429834	NM_001130438.3(SPTAN1):c.5818G>T (p.Asp1940Tyr)	SPTAN1 (D1915Y +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1701629	NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)	SPTAN1 (S2385F +8 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 1700714	NM_001130438.3(SPTAN1):c.-4+56C>G	SPTAN1, LOC130002712	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1693306	NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr)	SPTAN1 (A1577T +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 1676440	NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)	SPTAN1 (Q404* +1 more)	Single nucleotide variant	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 1676409	NM_001130438.3(SPTAN1):c.226A>G (p.Thr76Ala)	SPTAN1 (T76A +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1344838	NM_001130438.3(SPTAN1):c.3156-2A>G	SPTAN1	Single nucleotide variant (splice acceptor variant +1 more)	Seizure	GLikely pathogenic
Select item 1027648	NM_001130438.3(SPTAN1):c.1347_1348del (p.Arg449fs)	SPTAN1 (R449fs +1 more)	Microsatellite (frameshift variant)	Distal lower limb muscle weakness	GLikely pathogenic
Select item 975470	NM_001130438.3(SPTAN1):c.655C>T (p.Gln219Ter)	SPTAN1 (Q219* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GUncertain significance
Select item 930568	NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)	SPTAN1 (Q486E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 930357	NM_001130438.3(SPTAN1):c.364-3C>G	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 929476	NM_001130438.3:c.(?_1225)_(1572_?)del	SPTAN1	Deletion	Developmental and epileptic encephalopathy, 5	GPathogenic
Select item 810436	NM_001130438.3(SPTAN1):c.4220C>G (p.Ala1407Gly)	SPTAN1 (A1387G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810434	NM_001130438.3(SPTAN1):c.2701G>A (p.Glu901Lys)	SPTAN1 (E901K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 810432	NM_001130438.3(SPTAN1):c.2091A>G (p.Val697=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 507823	NM_001130438.3(SPTAN1):c.-13C>G	LOC130002712, SPTAN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 448966	NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter)	SPTAN1 (Y1797* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 420615	NM_001130438.3(SPTAN1):c.-66_-49dup	SPTAN1, LOC130002712	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 386969	NM_001130438.3(SPTAN1):c.-4+17G>A	LOC130002712, SPTAN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 383409	NM_001130438.3(SPTAN1):c.-20T>C	LOC130002712, SPTAN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 207341	NM_001130438.3(SPTAN1):c.-4G>A	LOC130002712, SPTAN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 207293	NM_001130438.3(SPTAN1):c.-34C>G	LOC130002712, SPTAN1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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Links from Gene

Items: 41