11273[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 420615	NM_001130438.3(SPTAN1):c.-66_-49dup	SPTAN1, LOC130002712	Duplication (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
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 507823	NM_001130438.3(SPTAN1):c.-13C>G	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 386969	NM_001130438.3(SPTAN1):c.-4+17G>A	LOC130002712, SPTAN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1271655	NM_001130438.3(SPTAN1):c.-3-18C>T	SPTAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2126641	NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 521110	NM_001130438.3(SPTAN1):c.21A>T (p.Lys7Asn)	SPTAN1 (K7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627514	NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)	SPTAN1 (E13Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 763509	NM_001130438.3(SPTAN1):c.45C>T (p.Ile15=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1136288	NM_001130438.3(SPTAN1):c.47A>G (p.Gln16Arg)	SPTAN1 (Q16R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 740513	NM_001130438.3(SPTAN1):c.55C>A (p.Arg19=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 427111	NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	SPTAN1 (R19W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 2700523	NM_001130438.3(SPTAN1):c.56G>A (p.Arg19Gln)	SPTAN1 (R31Q +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2034072	NM_001130438.3(SPTAN1):c.58dup (p.Gln20fs)	SPTAN1 (Q20fs +1 more)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1590039	NM_001130438.3(SPTAN1):c.57G>A (p.Arg19=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2821759	NM_001130438.3(SPTAN1):c.69A>T (p.Leu23=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1684519	NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter)	SPTAN1 (R25* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 976180	NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)	SPTAN1 (R25Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +1 more	GUncertain significance
Select item 856729	NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys)	SPTAN1 (R28C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 590192	NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)	SPTAN1 (R28H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1120884	NM_001130438.3(SPTAN1):c.84C>T (p.Arg28=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 461240	NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg)	SPTAN1 (K30R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1643711	NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 764760	NM_001130438.3(SPTAN1):c.96C>T (p.Leu32=)	SPTAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896342	NM_001130438.3(SPTAN1):c.104T>G (p.Leu35Arg)	SPTAN1 (L35R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 378645	NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1378280	NM_001130438.3(SPTAN1):c.109C>T (p.Arg37Cys)	SPTAN1 (R49C +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1482472	NM_001130438.3(SPTAN1):c.110G>A (p.Arg37His)	SPTAN1 (R49H +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 416897	NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=)	SPTAN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 390514	NM_001130438.3(SPTAN1):c.117G>A (p.Lys39=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1088488	NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3066258	NM_001130438.3(SPTAN1):c.121G>T (p.Glu41Ter)	SPTAN1 (E41* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic
Select item 391311	NM_001130438.3(SPTAN1):c.126T>C (p.Asp42=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3027070	NM_001130438.3(SPTAN1):c.128C>A (p.Ser43Tyr)	SPTAN1 (S43Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857483	NM_001130438.3(SPTAN1):c.129C>A (p.Ser43=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1631951	NM_001130438.3(SPTAN1):c.129C>T (p.Ser43=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1975753	NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)	SPTAN1 (Y56H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 195127	NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)	SPTAN1 (Y44C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GUncertain significance
Select item 2856248	NM_001130438.3(SPTAN1):c.133C>A (p.Arg45=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1308193	NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter)	SPTAN1 (R45* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 386469	NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln)	SPTAN1 (R45Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1805232	NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)	SPTAN1 (F46L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GUncertain significance
Select item 2661987	NM_001130438.3(SPTAN1):c.148C>A (p.Gln50Lys)	SPTAN1 (Q50K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 583157	NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn)	SPTAN1 (D52N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2632235	NM_001130438.3(SPTAN1):c.155A>G (p.Asp52Gly)	SPTAN1 (D52G +1 more)	Single nucleotide variant (missense variant)	SPTAN1-related disorder	GUncertain significance
Select item 2162013	NM_001130438.3(SPTAN1):c.159T>A (p.Ala53=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3169487	NM_001130438.3(SPTAN1):c.164A>T (p.Glu55Val)	SPTAN1 (E67V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1366026	NM_001130438.3(SPTAN1):c.190C>T (p.Leu64Phe)	SPTAN1 (L76F +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 833736	NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile)	SPTAN1 (L64I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1627872	NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2201379	NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1123420	NM_001130438.3(SPTAN1):c.201A>T (p.Ala67=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3018995	NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1450075	NM_001130438.3(SPTAN1):c.227C>T (p.Thr76Ile)	SPTAN1 (T88I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 212295	NM_001130438.3(SPTAN1):c.237+4C>T	SPTAN1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 5 +3 more	GConflicting classifications of pathogenicity
Select item 949574	NM_001130438.3(SPTAN1):c.237+5G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1131826	NM_001130438.3(SPTAN1):c.237+9G>C	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 207256	NM_001130438.3(SPTAN1):c.237+10A>G	SPTAN1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1537754	NM_001130438.3(SPTAN1):c.237+11T>G	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2413391	NM_001130438.3(SPTAN1):c.237+12C>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1203797	NM_001130438.3(SPTAN1):c.237+216G>A	SPTAN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217594	NM_001130438.3(SPTAN1):c.237+300TTTTG[3]	SPTAN1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 680786	NM_001130438.3(SPTAN1):c.237+335G>A	SPTAN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176077	NM_001130438.3(SPTAN1):c.238-13G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 378646	NM_001130438.3(SPTAN1):c.238-9C>T	SPTAN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3023057	NM_001130438.3(SPTAN1):c.238-8G>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1086161	NM_001130438.3(SPTAN1):c.238-8G>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2976582	NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2070115	NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1077413	NM_001130438.3(SPTAN1):c.279G>A (p.Gln93=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2119306	NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1100732	NM_001130438.3(SPTAN1):c.285C>T (p.Asn95=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2721293	NM_001130438.3(SPTAN1):c.288A>G (p.Ser96=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 2897649	NM_001130438.3(SPTAN1):c.298G>A (p.Val100Ile)	SPTAN1 (V112I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 982637	NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)	SPTAN1 (L102R +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2659537	NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)	SPTAN1 (G106fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 509734	NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=)	SPTAN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 625454	NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)	SPTAN1 (G106R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5	GLikely pathogenic

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