Variant	Impact	Inheritance pattern	Summary	Genomes

SCN1A A23V	insufficiently evaluated not reviewed, f=0.001	unknown		var-GS19703-1100-36-ASM
SCN1A D45DD	insufficiently evaluated not reviewed, f=0.008	unknown		var-GS06994-1100-36-ASM
SCN1A M145T	insufficiently evaluated pathogenic	unknown	(53 web hits)
SCN1A D188V	insufficiently evaluated pathogenic	unknown	(107 web hits)
SCN1A R222X	insufficiently evaluated pathogenic	unknown	(30 web hits)
SCN1A E289K	insufficiently evaluated not reviewed	unknown		CGI sample GS00253-DNA_A01_200_37
SCN1A T303S	insufficiently evaluated not reviewed	unknown		CGI sample GS01175-DNA_D03 from PGP sample 27486199
SCN1A T463A	insufficiently evaluated not reviewed	unknown
SCN1A T875M	insufficiently evaluated pathogenic	unknown	(114 web hits)
SCN1A L986F	insufficiently evaluated pathogenic	unknown	(50 web hits)
SCN1A A1039T	insufficiently evaluated not reviewed	unknown
SCN1A A1056T	insufficiently evaluated none, f=0.724	unknown	(20 web hits)	CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
				CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
				var-GS19025-1100-36-ASM (hom)
				CGI sample GS01669-DNA_F02 from PGP sample 40767107
				CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
				hu34D5B9 exome (hom)
				hu3215A7 build 36 substitution variants
				PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
				var-GS18942-1100-36-ASM (hom)
				CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
				var-GS19020-1100-36-ASM
				CGI sample GS01173-DNA_F02 from PGP sample 70008981
				var-GS19700-1100-36-ASM (hom)
				var-GS18501-1100-36-ASM (hom)
				var-GS18504-1100-36-ASM (hom)
				var-GS18558-1100-36-ASM
				var-GS19735-1100-36-ASM (hom)
				CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
				CGI sample GS000006909 (hom)
				CGI sample GS01175-DNA_B05 from PGP sample 83494370
				var-GS07357-1100-36-ASM
				CGI sample GS000005532 (hom)
				var-GS19703-1100-36-ASM (hom)
				hu232307 build 36 substitution variants
				CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
				CGI sample GS01669-DNA_B03 from PGP sample 14427241
				CGI sample GS00253-DNA_G01_200_37
				var-GS19701-1100-36-ASM (hom)
				CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
				var-GS19704-1100-36-ASM (hom)
				var-GS10851-1100-36-ASM
				CGI sample GS00253-DNA_A01_200_37 (hom)
				var-GS19834-1100-36-ASM (hom)
				var-GS19239-1100-36-ASM
				var-GS19017-1100-36-ASM (hom)
				var-GS18502-1100-36-ASM
				var-GS19649-1100-36-ASM (hom)
				var-GS18555-1100-36-ASM (hom)
				CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
				var-GS19648-1100-36-ASM (hom)
				var-GS18537-1100-36-ASM
				CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
				CGI sample GS00253-DNA_B02_200_37
				CGI sample GS00253-DNA_B01_200_37 (hom)
				CGI sample GS01173-DNA_F06 from PGP sample 64191565
				CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
				CGI sample GS00253-DNA_F01_200_37 (hom)
				CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
				var-GS19129-1100-36-ASM (hom)
				CGI sample GS00253-DNA_D01_200_37
				var-GS19240-1100-36-ASM
				CGI sample GS00253-DNA_C01_200_37 (hom)
				var-GS18526-1100-36-ASM (hom)
				var-GS18947-1100-36-ASM (hom)
				var-GS18505-1100-36-ASM (hom)
				var-GS19238-1100-36-ASM
				var-GS19670-1100-36-ASM (hom)
				CGI sample GS00253-DNA_A02_200_37 (hom)
				var-GS06994-1100-36-ASM
				CGI sample GS00253-DNA_H01_200_37
				CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
				CGI sample GS01175-DNA_F02 from PGP sample 95788191
				CGI sample GS01175-DNA_B04 from PGP sample 88590671
				CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SCN1A A1067T	insufficiently evaluated not reviewed	unknown
SCN1A W1204R	insufficiently evaluated pathogenic	unknown	(130 web hits)
SCN1A K1270T	insufficiently evaluated pathogenic	unknown	(26 web hits)
SCN1A E1297D	insufficiently evaluated not reviewed, f=0.001	unknown		var-GS10851-1100-36-ASM
SCN1A L1348Q	insufficiently evaluated not reviewed	unknown
SCN1A V1353L	insufficiently evaluated pathogenic	unknown	(88 web hits)
SCN1A V1428A	insufficiently evaluated pathogenic	unknown	(18 web hits)
SCN1A Q1489H	insufficiently evaluated pathogenic	unknown	(2 web hits)
SCN1A Q1489K	insufficiently evaluated pathogenic	unknown	(111 web hits)
SCN1A F1499L	insufficiently evaluated pathogenic	unknown	(2 web hits)
SCN1A V1611F	insufficiently evaluated pathogenic	unknown	(26 web hits)
SCN1A R1648H	insufficiently evaluated pathogenic	unknown	(207 web hits)
SCN1A I1656M	insufficiently evaluated pathogenic	unknown	(94 web hits)
SCN1A T1709I	insufficiently evaluated pathogenic	unknown	(23 web hits)
SCN1A S1868N	insufficiently evaluated not reviewed	unknown
SCN1A I1944T	insufficiently evaluated none, f=0.009	unknown		var-GS18504-1100-36-ASM
SCN1A I1944T	insufficiently evaluated none, f=0.009	unknown		var-GS19129-1100-36-ASM
Page: 1 2 3 Total results: 28

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