6324[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 1238134	NC_000019.10:g.35030440CGC[10]	SCN1B	Microsatellite	not provided	GBenign
Select item 1198135	NC_000019.10:g.35030440CGC[5]	LOC130064204, SCN1B	Microsatellite	not provided	GLikely benign
Select item 1180393	NC_000019.10:g.35030440CGC[6]	LOC130064204, SCN1B	Microsatellite	not provided	GLikely benign
Select item 1190623	NM_001037.5(SCN1B):c.-265G>A	LOC130064204, SCN1B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 675777	NM_001037.5(SCN1B):c.-226C>T	LOC130064204, SCN1B	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 328829	NM_001037.5(SCN1B):c.-132C>G	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 889254	NM_001037.5(SCN1B):c.-123A>T	SCN1B	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 328830	NM_001037.5(SCN1B):c.-95C>T	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +2 more	GBenign/Likely benign
Select item 328831	NM_001037.5(SCN1B):c.-93G>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 328832	NM_001037.5(SCN1B):c.-88A>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GUncertain significance
Select item 889934	NM_001037.5(SCN1B):c.-72G>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +1 more	GUncertain significance
Select item 513312	NM_001037.5(SCN1B):c.-41C>G	SCN1B	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 139001	NM_001037.5(SCN1B):c.-40C>G	SCN1B	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 516623	NM_001037.5(SCN1B):c.-31G>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 328833	NM_001037.5(SCN1B):c.-27G>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 5 +2 more	GBenign
Select item 190851	NM_001037.5(SCN1B):c.-27G>T	SCN1B	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 379366	NM_001037.5(SCN1B):c.-26G>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 583794	NC_000019.10:g.(?_35030801)_(35039721_?)del	SCN1B	Deletion	Brugada syndrome 5	GUncertain significance
Select item 139002	NM_001037.5(SCN1B):c.-9C>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	Brugada syndrome 5 +3 more	GBenign/Likely benign
Select item 3232420	NM_001037.5(SCN1B):c.-1C>A	SCN1B	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 373645	NM_001037.5(SCN1B):c.-1C>T	SCN1B	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 489074	NM_001037.5(SCN1B):c.1A>C (p.Met1Leu)	SCN1B (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1191122	NM_001037.5(SCN1B):c.2T>C (p.Met1Thr)	SCN1B (M1T)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 2891167	NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)	SCN1B (M1I)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GPathogenic
Select item 1040220	NM_001037.5(SCN1B):c.3G>C (p.Met1Ile)	SCN1B (M1I)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 2727503	NM_001037.5(SCN1B):c.5G>T (p.Gly2Val)	SCN1B (G2V)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 1302666	NM_001037.5(SCN1B):c.8G>T (p.Arg3Met)	SCN1B (R3M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1769364	NM_001037.5(SCN1B):c.12G>A (p.Leu4=)	SCN1B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 424188	NM_001037.5(SCN1B):c.13C>A (p.Leu5Met)	SCN1B (L5M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 941917	NM_001037.5(SCN1B):c.16G>C (p.Ala6Pro)	SCN1B (A6P)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 1780359	NM_001037.5(SCN1B):c.17C>T (p.Ala6Val)	SCN1B (A6V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1717247	NM_001037.5(SCN1B):c.19T>A (p.Leu7Ile)	SCN1B (L7I)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 1207564	NM_001037.5(SCN1B):c.20T>G (p.Leu7Ter)	SCN1B (L7*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 190867	NM_001037.5(SCN1B):c.22G>C (p.Val8Leu)	SCN1B (V8L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 190868	NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)	SCN1B (V8A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1128392	NM_001037.5(SCN1B):c.27C>A (p.Val9=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 190869	NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)	SCN1B (G10S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 470178	NM_001037.5(SCN1B):c.29G>A (p.Gly10Asp)	SCN1B (G10D)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 941383	NM_001037.5(SCN1B):c.31G>A (p.Ala11Thr)	SCN1B (A11T)	Single nucleotide variant (missense variant)	Brugada syndrome 5	GUncertain significance
Select item 2884492	NM_001037.5(SCN1B):c.33G>C (p.Ala11=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GLikely benign
Select item 839639	NM_001037.5(SCN1B):c.40+1_40+50del	SCN1B	Deletion (splice donor variant)	Brugada syndrome 5	GLikely pathogenic
Select item 190870	NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)	SCN1B (L13P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 2740253	NM_001037.5(SCN1B):c.39G>C (p.Leu13=)	SCN1B	Single nucleotide variant (synonymous variant)	Brugada syndrome 5	GUncertain significance
Select item 813749	NM_001037.5(SCN1B):c.40+2T>G	SCN1B	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 1	GUncertain significance
Select item 2016781	NM_001037.5(SCN1B):c.40+6T>G	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GUncertain significance
Select item 139003	NM_001037.5(SCN1B):c.40+6T>C	SCN1B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 798835	NM_001037.5(SCN1B):c.40+7G>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 759632	NM_001037.5(SCN1B):c.40+8C>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 681122	NM_001037.5(SCN1B):c.40+9G>A	SCN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1984886	NM_001037.5(SCN1B):c.40+11G>C	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 669480	NM_001037.5(SCN1B):c.40+15G>A	SCN1B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 93481	NM_001037.5(SCN1B):c.40+15G>T	SCN1B	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2033357	NM_001037.5(SCN1B):c.40+17C>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 683808	NM_001037.5(SCN1B):c.41-313T>A	SCN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677382	NM_001037.5(SCN1B):c.41-239T>G	SCN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2770750	NM_001037.5(SCN1B):c.41-19G>A	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 389055	NM_001037.5(SCN1B):c.41-14T>C	SCN1B	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1547164	NM_001037.5(SCN1B):c.41-12del	SCN1B	Deletion (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2917125	NM_001037.5(SCN1B):c.41-11T>C	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 1157458	NM_001037.5(SCN1B):c.41-8C>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 1137407	NM_001037.5(SCN1B):c.41-7C>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2760668	NM_001037.5(SCN1B):c.41-4dup	SCN1B	Duplication (intron variant)	Brugada syndrome 5	GLikely benign
Select item 2061039	NM_001037.5(SCN1B):c.41-5C>T	SCN1B	Single nucleotide variant (intron variant)	Brugada syndrome 5	GLikely benign
Select item 424109	NM_001037.5(SCN1B):c.41-3C>T	SCN1B	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1677458	NM_001037.5(SCN1B):c.41-1G>T	SCN1B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1189924	NM_001037.5(SCN1B):c.41T>C (p.Val14Ala)	SCN1B (V14A)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 2231750	NM_001037.5(SCN1B):c.50C>G (p.Ala17Gly)	SCN1B (A17G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1745338	NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)	SCN1B (A17V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2728379	NM_001037.5(SCN1B):c.59dup (p.Cys21fs)	SCN1B (C21fs)	Duplication (frameshift variant +1 more)	Brugada syndrome 5	GPathogenic
Select item 1623383	NM_001037.5(SCN1B):c.54C>T (p.Cys18=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2683490	NM_001037.5(SCN1B):c.55G>A (p.Gly19Arg)	SCN1B (G19R)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 1711477	NM_001037.5(SCN1B):c.58G>A (p.Gly20Ser)	SCN1B (G20S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3316550	NM_001037.5(SCN1B):c.60C>T (p.Gly20=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3232421	NM_001037.5(SCN1B):c.60C>G (p.Gly20=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 378520	NM_001037.5(SCN1B):c.63C>T (p.Cys21=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 568522	NM_001037.5(SCN1B):c.64G>A (p.Val22Met)	SCN1B (V22M)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 403416	NM_001037.5(SCN1B):c.67del (p.Glu23fs)	SCN1B (E23fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1095791	NM_001037.5(SCN1B):c.69G>A (p.Glu23=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 519511	NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)	SCN1B (E23D)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 2709790	NM_001037.5(SCN1B):c.71T>A (p.Val24Glu)	SCN1B (V24E)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 2719686	NM_001037.5(SCN1B):c.72G>A (p.Val24=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 190879	NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn)	SCN1B (D25N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3019895	NM_001037.5(SCN1B):c.77C>T (p.Ser26Leu)	SCN1B (S26L)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance
Select item 470187	NM_001037.5(SCN1B):c.78G>A (p.Ser26=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5	GLikely benign
Select item 190880	NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)	SCN1B (T28A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1763624	NM_001037.5(SCN1B):c.84C>A (p.Thr28=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1078886	NM_001037.5(SCN1B):c.84C>T (p.Thr28=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5 +1 more	GLikely benign
Select item 637055	NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)	SCN1B (E29K)	Single nucleotide variant (missense variant +1 more)	Childhood absence epilepsy +2 more	GUncertain significance
Select item 190855	NM_001037.5(SCN1B):c.85G>C (p.Glu29Gln)	SCN1B (E29Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1156941	NM_001037.5(SCN1B):c.90C>A (p.Ala30=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 516625	NM_001037.5(SCN1B):c.90C>T (p.Ala30=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Brugada syndrome 5 +2 more	GLikely benign
Select item 1766168	NM_001037.5(SCN1B):c.91G>A (p.Val31Met)	SCN1B (V31M)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +1 more	GUncertain significance
Select item 3316552	NM_001037.5(SCN1B):c.93G>T (p.Val31=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2762136	NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)	SCN1B (Y32fs)	Insertion (frameshift variant +1 more)	Brugada syndrome 5	GPathogenic
Select item 703649	NM_001037.5(SCN1B):c.96T>C (p.Tyr32=)	SCN1B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1034608	NM_001037.5(SCN1B):c.97G>A (p.Gly33Arg)	SCN1B (G33R)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5	GUncertain significance

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