Variant	Impact	Inheritance pattern	Summary	Genomes

KCNQ2 R207Q	insufficiently evaluated pathogenic	unknown	(21 web hits)
KCNQ2 R207W	insufficiently evaluated pathogenic	unknown	(67 web hits)
KCNQ2 R214W	insufficiently evaluated pathogenic	unknown	(51 web hits)
KCNQ2 S247W	insufficiently evaluated pathogenic	unknown	(7 web hits)
KCNQ2 Y284C	insufficiently evaluated pathogenic	unknown	(42 web hits)
KCNQ2 A306T	insufficiently evaluated pathogenic	unknown	(53 web hits)
KCNQ2 E515D	insufficiently evaluated not reviewed, f=0.000	unknown		CGI sample GS01175-DNA_B01 from PGP sample 86206034
KCNQ2 E515D	insufficiently evaluated not reviewed, f=0.000	unknown		var-GS18947-1100-36-ASM
KCNQ2 K526N	insufficiently evaluated pathogenic	unknown	(9 web hits)
KCNQ2 N749T	insufficiently evaluated not reviewed	unknown		hu728FFF build 36 substitution variants (hom)
KCNQ2 N752T	insufficiently evaluated not reviewed	unknown		hu728FFF build 36 substitution variants (hom)
KCNQ2 N762T	insufficiently evaluated not reviewed	unknown		hu728FFF build 36 substitution variants (hom)
KCNQ2 N780T	insufficiently evaluated not reviewed, f=0.597	unknown		CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
				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
				CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
				CGI sample GS01175-DNA_H01 from PGP sample 94797469
				hu34D5B9 exome
				hu3215A7 build 36 substitution variants
				var-GS18942-1100-36-ASM
				CGI sample GS01669-DNA_C05 from PGP sample 42408046
				CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
				var-GS19700-1100-36-ASM (hom)
				var-GS18504-1100-36-ASM
				var-GS18558-1100-36-ASM (hom)
				var-GS19735-1100-36-ASM
				CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
				var-GS07357-1100-36-ASM (hom)
				var-GS19703-1100-36-ASM
				hu232307 build 36 substitution variants
				var-GS12004-1100-36-ASM
				CGI sample GS01669-DNA_B03 from PGP sample 14427241
				CGI sample GS01175-DNA_A04 from PGP sample 13272228
				var-GS21767-1100-36-ASM (hom)
				var-GS19704-1100-36-ASM
				var-GS10851-1100-36-ASM (hom)
				CGI sample GS01173-DNA_D06 from PGP sample 69488604
				var-GS19834-1100-36-ASM
				var-GS19649-1100-36-ASM (hom)
				CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
				var-GS19648-1100-36-ASM
				var-GS18537-1100-36-ASM (hom)
				CGI sample GS01669-DNA_D02 from PGP sample 27316983
				CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
				CGI sample GS00253-DNA_B01_200_37
				CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
				CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
				CGI sample GS00253-DNA_F01_200_37
				var-GS20502-1100-36-ASM
				CGI sample GS01175-DNA_B01 from PGP sample 86206034
				CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
				CGI sample GS00253-DNA_D01_200_37
				hu728FFF build 36 substitution variants (hom)
				var-GS18505-1100-36-ASM
				var-GS06994-1100-36-ASM
				CGI sample GS00253-DNA_H01_200_37
				CGI sample GS01669-DNA_A04 from PGP sample 08188426
				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 (hom)
				var-GS18508-1100-36-ASM
				var-GS19669-1100-36-ASM
				var-GS19026-1100-36-ASM (hom)
				var-GS20509-1100-36-ASM (hom)
				var-GS18940-1100-36-ASM (hom)
				var-GS18956-1100-36-ASM
				var-GS18517-1100-36-ASM
				CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
Page: 1 2 Total results: 12

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