List of variants in gene SCN8A reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 45

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val)	rs2138742488
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr)	rs1941714399
NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu)	rs1941714576
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His)	rs2138748186
NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala)	rs2138748239
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro)	rs878854973
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg)	rs878854974
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp)	rs886043686
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe)	rs774522197
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly)	rs1592149906
NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val)	rs2138868851
NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp)	rs1430513260
NM_001330260.2(SCN8A):c.3942+1G>T	rs2138892902
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser)	rs796053214
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu)	rs1555228668
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr)	rs2138909658
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)	rs1938178701
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)	rs1555228771
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg)	rs796053216
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)	rs1555230905
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala)	rs1555230909
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn)	rs1938702028
NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val)	rs1938703803
NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)
NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser)	rs879255709
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val)	rs1938712937
NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu)	rs1938721157
NM_001330260.2(SCN8A):c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg)	rs2138944020
NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val)	rs2138944124
NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu)	rs796053233
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile)	rs1941650264
NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr)	rs1941650760
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)	rs878853250
NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys)	rs2138735794
NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)
NM_001330260.2(SCN8A):c.929-2A>G
NM_014191.4(SCN8A):c.615-1G>A	rs1555217342
NM_014191.4(SCN8A):c.615-2A>C	rs1060504137
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala)	rs1057518487

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