ClinVar for MedGen (Select 97959) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248259	NC_000020.10:g.(?_62065192)_(62071475_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 3248258	NC_000020.10:g.(?_62038255)_(62077133_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248257	NC_000020.10:g.(?_62027833)_(62045450_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248255	NC_000020.10:g.(?_62027832)_(62045449_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248254	NC_000020.10:g.(?_62030796)_(62038482_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248253	NC_000020.10:g.(?_62050952)_(62070093_?)dup	KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 3248252	NC_000020.10:g.(?_61978090)_(62073904_?)dup	CHRNA4, KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248251	NC_000020.10:g.(?_62055510)_(62073904_?)dup	KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 3248250	NC_000020.10:g.(?_62037997)_(62039909_?)dup	KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248249	NC_000020.10:g.(?_60831241)_(62051045_?)dup	ADRM1, ARFGAP1 +27 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248248	NC_000020.10:g.(?_61978090)_(62055579_?)dup	CHRNA4, KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248247	NC_000020.10:g.(?_62055510)_(62059808_?)dup	KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248246	NC_000020.10:g.(?_62103501)_(62103816_?)dup	KCNQ2	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3248244	NC_000020.10:g.(?_61978090)_(62062742_?)del	CHRNA4, KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248243	NC_000020.10:g.(?_62037997)_(62071081_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248242	NC_000020.10:g.(?_62062673)_(62078210_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248241	NC_000020.10:g.(?_62044783)_(62078210_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248240	NC_000020.10:g.(?_62044783)_(62045566_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248239	NC_000020.10:g.(?_62050952)_(62059808_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248238	NC_000020.10:g.(?_62062673)_(62103816_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248237	NC_000020.10:g.(?_62069958)_(62129116_?)del	EEF1A2, KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248236	NC_000020.10:g.(?_62044783)_(62159505_?)del	EEF1A2, KCNQ2 +1 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248234	NC_000020.10:g.(?_62045421)_(62103816_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3248232	NC_000020.10:g.(?_61978090)_(62562921_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GUncertain significance
Select item 3248230	NC_000020.10:g.(?_61978090)_(62562921_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 3247692	NC_000001.10:g.(?_44201934)_(44482805_?)del	ARTN, ATP6V0B +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247199	NC_000002.11:g.(?_166907827)_(166909401_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247198	NC_000002.11:g.(?_166852724)_(166856279_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247197	NC_000002.11:g.(?_166859045)_(166864276_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247196	NC_000002.11:g.(?_166847755)_(166872257_?)dup	SCN1A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3247195	NC_000002.11:g.(?_166847755)_(166930131_?)dup	SCN1A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3247194	NC_000002.11:g.(?_166908209)_(166909544_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247192	NC_000002.11:g.(?_166737169)_(166915218_?)del	SCN1A, TTC21B	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247191	NC_000002.11:g.(?_166908209)_(167168266_?)del	SCN1A, SCN9A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247190	NC_000002.11:g.(?_166854528)_(166854705_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247189	NC_000002.11:g.(?_166915060)_(166915218_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247188	NC_000002.11:g.(?_166897721)_(166897999_?)del	SCN1A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3247187	NC_000002.11:g.(?_166929848)_(167168266_?)del	SCN1A, SCN9A	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3246868	NC_000003.11:g.(?_50403254)_(50407651_?)del	CACNA2D2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 3246317	NC_000005.9:g.(?_45695975)_(45696384_?)del	HCN1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246316	NC_000005.9:g.(?_42688972)_(45303961_?)dup	ANXA2R, C5orf34 +12 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246315	NC_000005.9:g.(?_45262023)_(45396832_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246314	NC_000005.9:g.(?_45353182)_(45396832_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246313	NC_000005.9:g.(?_45262023)_(45462129_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246312	NC_000005.9:g.(?_45396574)_(45462129_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246311	NC_000005.9:g.(?_45353182)_(45645730_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246309	NC_000005.9:g.(?_45461928)_(45696195_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246308	NC_000005.9:g.(?_45262003)_(45262932_?)dup	HCN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3246307	NC_000005.9:g.(?_45262003)_(45303961_?)del	HCN1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245125	NC_000009.11:g.(?_130425464)_(130432257_?)del	STXBP1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3245123	NC_000009.11:g.(?_130444665)_(130446756_?)del	STXBP1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3245122	NC_000009.11:g.(?_130432157)_(130435560_?)del	STXBP1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3245121	NC_000009.11:g.(?_130415974)_(130416095_?)del	STXBP1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3245120	NC_000009.11:g.(?_130374683)_(130374739_?)del	STXBP1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245118	NC_000009.11:g.(?_131394386)_(131395613_?)dup	SPTAN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245117	NC_000009.11:g.(?_131386587)_(131395613_?)dup	SPTAN1	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3244264	NC_000012.11:g.(?_52163632)_(52201213_?)dup	SCN8A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3244263	NC_000012.11:g.(?_52189566)_(52201213_?)dup	SCN8A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3244262	NC_000012.11:g.(?_52056602)_(52201213_?)dup	SCN8A	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3243964	NC_000014.8:g.(?_63174226)_(63511904_?)dup	KCNH5	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3243963	NC_000014.8:g.(?_63174226)_(63511904_?)del	KCNH5	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3243367	NC_000016.9:g.(?_56385276)_(56388965_?)del	GNAO1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3242973	NC_000017.10:g.(?_8215358)_(8224311_?)dup	ARHGEF15	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3242972	NC_000017.10:g.(?_8215358)_(8224311_?)del	ARHGEF15	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3075781	NM_024818.6(UBA5):c.367_368insGA (p.Ala123fs)	NPHP3-ACAD11, UBA5 (A11fs +3 more)	Insertion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067172	NM_006922.4(SCN3A):c.4861C>G (p.Arg1621Gly)	SCN3A (R1572G +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	Gnot provided
Select item 3067171	NM_006922.4(SCN3A):c.5295G>C (p.Met1765Ile)	SCN3A (M1716I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	Gnot provided
Select item 3067170	NM_006922.4(SCN3A):c.4518A>C (p.Lys1506Asn)	SCN3A (K1457N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	Gnot provided
Select item 3067169	NM_006922.4(SCN3A):c.5276T>A (p.Phe1759Tyr)	SCN3A (F1710Y +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	Gnot provided
Select item 3067168	NM_006922.4(SCN3A):c.4937T>G (p.Phe1646Cys)	SCN3A (F1597C +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	Gnot provided
Select item 3067135	NM_001286615.2(ANO4):c.387C>G (p.Asn129Lys)	ANO4 (N129K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067134	NM_001286615.2(ANO4):c.1807A>G (p.Asn603Asp)	ANO4 (N568D +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067133	NM_001286615.2(ANO4):c.1684A>T (p.Ile562Phe)	ANO4 (I527F +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067132	NM_001286615.2(ANO4):c.1674C>A (p.Asn558Lys)	ANO4 (N523K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3067131	NM_001286615.2(ANO4):c.1688T>A (p.Met563Lys)	ANO4 (M528K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3023856	NM_021072.4(HCN1):c.1190T>A (p.Ile397Asn)	HCN1 (I397N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3023396	NM_021072.4(HCN1):c.2528G>A (p.Arg843Gln)	HCN1 (R843Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3023173	NM_006030.4(CACNA2D2):c.2349C>T (p.Tyr783=)	CACNA2D2, LOC101928965 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3023057	NM_001130438.3(SPTAN1):c.238-8G>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3022647	NM_139318.5(KCNH5):c.1823-15T>C	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3022307	NM_021072.4(HCN1):c.2296G>A (p.Glu766Lys)	HCN1 (E766K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3022305	NM_001130438.3(SPTAN1):c.5833-17C>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3022092	NM_139318.5(KCNH5):c.198-11T>C	KCNH5	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3022041	NM_139318.5(KCNH5):c.2662A>G (p.Ser888Gly)	KCNH5 (S888G)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3021652	NM_001032221.6(STXBP1):c.1702+12T>C	STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3021238	NM_001130438.3(SPTAN1):c.3864+10C>A	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3021233	NM_001130438.3(SPTAN1):c.1323+3A>T	SPTAN1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3021007	NM_172107.4(KCNQ2):c.837C>G (p.Gly279=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3020842	NM_006030.4(CACNA2D2):c.3195G>A (p.Gln1065=)	CACNA2D2, LOC127898564	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3020661	NM_001165963.4(SCN1A):c.5378C>T (p.Thr1793Ile)	LOC102724058, SCN1A (T1781I +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3020445	NM_021072.4(HCN1):c.99C>T (p.Ala33=)	HCN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3020193	NM_001330260.2(SCN8A):c.4068C>T (p.Cys1356=)	SCN8A	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3019945	NM_001165963.4(SCN1A):c.87T>G (p.Ile29Met)	SCN1A (I29M)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3019463	NM_001165963.4(SCN1A):c.2044-6_2044-5dup	SCN1A	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 3018995	NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)	SPTAN1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3018882	NM_001032221.6(STXBP1):c.1111-11G>A	STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3018697	NM_001130438.3(SPTAN1):c.5867T>A (p.Met1956Lys)	SPTAN1 (M1951K +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3018038	NM_139318.5(KCNH5):c.1671G>A (p.Gly557=)	KCNH5	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign

<< First< Prev

Page of 10