ClinVar for MedGen (Select 489988) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353861	NM_172107.4(KCNQ2):c.1133C>T (p.Thr378Ile)	KCNQ2 (T378I)	Single nucleotide variant (missense variant +1 more)	KCNQ2-related disorder	GUncertain significance
Select item 3339624	NC_000020.10:g.(62078191_62103520)_(62104009_?)del	KCNQ2	Deletion	KCNQ2-related disorder	GPathogenic
Select item 3068827	NM_172107.4(KCNQ2):c.569A>G (p.Asn190Ser)	KCNQ2 (N190S)	Single nucleotide variant (missense variant)	KCNQ2-related disorder	GPathogenic
Select item 3052897	NM_172107.4(KCNQ2):c.1118+46A>T	KCNQ2 (L388F)	Single nucleotide variant (missense variant +1 more)	KCNQ2-related disorder	GBenign
Select item 3045402	NM_172107.4(KCNQ2):c.1320A>G (p.Lys440=)	KCNQ2	Single nucleotide variant (synonymous variant +1 more)	KCNQ2-related disorder	GLikely benign
Select item 3032629	NM_172107.4(KCNQ2):c.358A>T (p.Lys120Ter)	KCNQ2 (K120*)	Single nucleotide variant (nonsense)	KCNQ2-related disorder	GPathogenic
Select item 2631142	NM_172107.4(KCNQ2):c.1543G>C (p.Glu515Gln)	KCNQ2 (E484Q +3 more)	Single nucleotide variant (missense variant)	KCNQ2-related disorder	GUncertain significance
Select item 2630788	NM_172107.4(KCNQ2):c.2512G>C (p.Glu838Gln)	KCNQ2 (E807Q +4 more)	Single nucleotide variant (missense variant)	KCNQ2-related disorder	GUncertain significance
Select item 2628339	NM_172107.4(KCNQ2):c.857A>C (p.Gln286Pro)	KCNQ2 (Q286P)	Single nucleotide variant (missense variant)	KCNQ2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2584409	NM_172107.4(KCNQ2):c.920T>C (p.Leu307Pro)	KCNQ2 (L307P)	Single nucleotide variant (missense variant)	KCNQ2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2573141	NM_172107.4(KCNQ2):c.830C>T (p.Thr277Ile)	KCNQ2 (T277I)	Single nucleotide variant (missense variant)	KCNQ2-related disorder	GPathogenic
Select item 2572248	NM_172107.4(KCNQ2):c.2268_2271del (p.Gly757fs)	KCNQ2 (G726fs +4 more)	Deletion (frameshift variant)	KCNQ2-related disorder	GPathogenic
Select item 2433027	NM_172107.4(KCNQ2):c.1622G>A (p.Arg541Lys)	KCNQ2 (R510K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307528	NM_172107.4(KCNQ2):c.482T>C (p.Leu161Pro)	KCNQ2 (L161P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301899	NM_172107.4(KCNQ2):c.1681C>T (p.Pro561Ser)	KCNQ2 (P530S +3 more)	Single nucleotide variant (missense variant)	KCNQ2-related disorder	GPathogenic
Select item 1196988	NM_172107.4(KCNQ2):c.2114dup (p.Ala706fs)	KCNQ2 (A675fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1110128	NM_172107.4(KCNQ2):c.1635C>A (p.Val545=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1076678	NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter)	KCNQ2 (Y264*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984926	NM_172107.4(KCNQ2):c.144dup (p.Lys49fs)	KCNQ2 (K49fs)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 976330	NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)	KCNQ2 (T359M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 972975	NM_172107.4(KCNQ2):c.683A>G (p.His228Arg)	KCNQ2 (H228R)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder +1 more	Gnot provided
Select item 967422	NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr)	KCNQ2 (A148T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 697102	NM_172107.4(KCNQ2):c.2184C>T (p.His728=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 682584	NM_172107.4(KCNQ2):c.387+10G>A	KCNQ2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 676579	NM_172107.4(KCNQ2):c.297-10C>G	KCNQ2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 639127	NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)	KCNQ2 (I612L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 580776	NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg)	KCNQ2 (G624R +3 more)	Single nucleotide variant (missense variant)	KCNQ2-related disorder +1 more	GUncertain significance
Select item 577370	NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr)	KCNQ2 (A707T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 545120	NM_172107.4(KCNQ2):c.724T>G (p.Cys242Gly)	KCNQ2 (C242G)	Single nucleotide variant (missense variant)	KCNQ2-related disorder	GLikely pathogenic
Select item 530545	NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 520399	NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)	KCNQ2 (R144G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7 +2 more	GPathogenic/Likely pathogenic
Select item 516131	NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 461421	NM_172107.4(KCNQ2):c.514+4A>T	KCNQ2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 431095	NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)	KCNQ2 (G301D)	Single nucleotide variant (missense variant)	KCNQ2-related disorder +2 more	GPathogenic
Select item 429212	NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)	KCNQ2 (I278T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 418894	NM_172107.4(KCNQ2):c.2126dup (p.Val710fs)	KCNQ2 (V679fs +3 more)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 418726	NM_172107.4(KCNQ2):c.506G>T (p.Cys169Phe)	KCNQ2 (C169F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 379065	NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys)	KCNQ2 (R854C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 378025	NM_172107.4(KCNQ2):c.1118+69C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 378024	NM_172107.4(KCNQ2):c.861C>G (p.Thr287=)	KCNQ2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 378023	NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 378021	NM_172107.4(KCNQ2):c.515-9G>A	KCNQ2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 372677	NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln)	KCNQ2 (R560Q +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 369765	NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys)	KCNQ2 (G279C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 369742	NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile)	KCNQ2 (T114I)	Single nucleotide variant (missense variant)	KCNQ2-related disorder	GLikely pathogenic
Select item 280703	NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)	KCNQ2 (M546T +3 more)	Single nucleotide variant (missense variant)	KCNQ2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 219235	NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)	KCNQ2 (A306V)	Single nucleotide variant (missense variant)	KCNQ2-related disorder +5 more	GPathogenic
Select item 211236	NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)	KCNQ2 (F305del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 7 +6 more	GPathogenic/Likely pathogenic
Select item 205915	NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	KCNQ2 (R560W +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 205902	NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val)	KCNQ2 (G418V)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GLikely benign
Select item 205886	NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)	KCNQ2 (A294V)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 205864	NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)	KCNQ2 (R144Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 205852	NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 205849	NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser)	KCNQ2 (G756S +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 205833	NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 198284	NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)	KCNQ2 (G281R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 167205	NM_172107.4(KCNQ2):c.*4G>A	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 138031	NM_172107.4(KCNQ2):c.2385C>T (p.His795=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 138016	NM_172107.4(KCNQ2):c.754T>C (p.Leu252=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 138014	NM_172107.4(KCNQ2):c.303C>G (p.Leu101=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 129336	NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 129332	NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)	KCNQ2 (V450M +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 120176	NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	KCNQ2 (A265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 21809	NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)	KCNQ2 (R333W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 21792	NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)	KCNQ2 (A196V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic
Select item 21787	NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)	KCNQ2 (S122L)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 1 +4 more	GPathogenic/Likely pathogenic
Select item 21768	NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)	KCNQ2 (R581* +3 more)	Single nucleotide variant (nonsense)	Seizures, benign familial neonatal, 1 +4 more	GPathogenic
Select item 7391	NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)	KCNQ2 (R207Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

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Items: 68