6296[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	ARFGAP1, BHLHE23 +102 more	Duplication	not provided	GUncertain significance
Select item 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 221549	GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1	ARFGAP1, BIRC7 +15 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1341868	NC_000020.11:g.63255263_63498365del	ARFGAP1, CHRNA4 +19 more	Deletion	Seizure	GLikely pathogenic
Select item 42118	nsv1197577	KCNQ2, LOC125387319	Deletion	Seizures, benign familial neonatal, 1	GPathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 2652527	NM_172107.4(KCNQ2):c.*5965A>G	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3255266	NM_172107.4(KCNQ2):c.*5962G>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2571140	NM_172107.4(KCNQ2):c.*5949G>A	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1695020	NM_172107.4(KCNQ2):c.*5930C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2652528	NM_172107.4(KCNQ2):c.*5915C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2578911	NM_172107.4(KCNQ2):c.*5904C>G	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 369809	NM_172107.2(KCNQ2):c.1764-?_(*455_?)del	KCNQ2	Deletion	Seizures, benign familial neonatal, 1	Gnot provided
Select item 369792	NM_172107.2(KCNQ2):c.1248-?_(*455_?)del	KCNQ2, LOC125387319	Deletion	Seizures, benign familial neonatal, 1	Gnot provided
Select item 339325	NM_172107.4(KCNQ2):c.*295C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259970	NM_172107.4(KCNQ2):c.*248C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260705	NM_172107.4(KCNQ2):c.*29C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1252361	NM_172107.4(KCNQ2):c.*23C>A	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 641559	NC_000020.11:g.(?_63406624)_(63472483_?)del	KCNQ2, KCNQ2-AS1 +2 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 461211	NC_000020.11:g.(?_63406624)_(63439728_?)del	KCNQ2, LOC125387319	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 461210	NC_000020.11:g.(?_63406624)_(63407395_?)del	KCNQ2	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1214389	NM_172107.4(KCNQ2):c.*6C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 1220829	NM_172107.4(KCNQ2):c.*3C>T	KCNQ2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2652529	NM_172107.4(KCNQ2):c.2618G>A (p.Ter873=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729556	NM_172107.4(KCNQ2):c.2616G>C (p.Lys872Asn)	KCNQ2 (K844N +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 129343	NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)	KCNQ2 (R871S +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 1039409	NM_172107.4(KCNQ2):c.2612G>A (p.Arg871Lys)	KCNQ2 (R843K +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1391453	NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly)	KCNQ2 (R889G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 21782	NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs)	KCNQ2 (R853fs +4 more)	Microsatellite (frameshift variant)	Seizures, benign familial neonatal, 1	GPathogenic
Select item 1923511	NM_172107.4(KCNQ2):c.2608C>T (p.Pro870Ser)	KCNQ2 (P852S +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2815256	NM_172107.4(KCNQ2):c.2607del (p.Arg871fs)	KCNQ2 (R843fs +4 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2032930	NM_172107.4(KCNQ2):c.2607G>C (p.Gly869=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2194673	NM_172107.4(KCNQ2):c.2605G>A (p.Gly869Arg)	KCNQ2 (G838R +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 378032	NM_172107.4(KCNQ2):c.2604C>T (p.Ala868=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 369815	NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs)	KCNQ2 (R843fs +4 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 452658	NM_172107.4(KCNQ2):c.2602G>C (p.Ala868Pro)	KCNQ2 (A868P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672259	NM_172107.4(KCNQ2):c.2599T>C (p.Trp867Arg)	KCNQ2 (W836R +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 7	GUncertain significance
Select item 21781	NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)	KCNQ2 (G838fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2064162	NM_172107.4(KCNQ2):c.2594T>G (p.Val865Gly)	KCNQ2 (V865G +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1981183	NM_172107.4(KCNQ2):c.2593G>A (p.Val865Met)	KCNQ2 (V837M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 995136	NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 205938	NM_172107.4(KCNQ2):c.2584T>C (p.Phe862Leu)	KCNQ2 (F862L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911007	NM_172107.4(KCNQ2):c.2583C>G (p.Pro861=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 809266	NM_172107.4(KCNQ2):c.2583C>A (p.Pro861=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719135	NM_172107.4(KCNQ2):c.2578G>C (p.Gly860Arg)	KCNQ2 (G829R +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 743556	NM_172107.4(KCNQ2):c.2577G>A (p.Glu859=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2984335	NM_172107.4(KCNQ2):c.2575G>A (p.Glu859Lys)	KCNQ2 (E859K +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1069909	NM_172107.4(KCNQ2):c.2568_2574del (p.Thr857fs)	KCNQ2 (T826fs +4 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 696177	NM_172107.4(KCNQ2):c.2574C>T (p.Gly858=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2779903	NM_172107.4(KCNQ2):c.2572G>C (p.Gly858Arg)	KCNQ2 (G840R +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 205937	NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)	KCNQ2 (G858S +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 205853	NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2417655	NM_172107.4(KCNQ2):c.2570C>T (p.Thr857Ile)	KCNQ2 (T826I +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1793174	NM_172107.4(KCNQ2):c.2566G>C (p.Ala856Pro)	KCNQ2 (A874P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1503469	NM_172107.4(KCNQ2):c.2566G>T (p.Ala856Ser)	KCNQ2 (A856S +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1037023	NM_172107.4(KCNQ2):c.2536_2565del (p.Cys846_Ser855del)	KCNQ2	Deletion (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 954884	NM_172107.4(KCNQ2):c.2565G>A (p.Ser855=)	KCNQ2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 21780	NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)	KCNQ2 (S855L +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2888280	NM_172107.4(KCNQ2):c.2561G>A (p.Arg854His)	KCNQ2 (R823H +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1412675	NM_172107.4(KCNQ2):c.2561G>T (p.Arg854Leu)	KCNQ2 (R836L +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 1895747	NM_172107.4(KCNQ2):c.2555dup (p.Pro853fs)	KCNQ2 (P822fs +4 more)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 138034	NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=)	KCNQ2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 418594	NM_172107.4(KCNQ2):c.2555del (p.Pro852fs)	KCNQ2 (P824fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 205936	NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu)	KCNQ2 (P852L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 598657	NM_172107.4(KCNQ2):c.2553C>T (p.Pro851=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3372007	NM_172107.4(KCNQ2):c.2551C>A (p.Pro851Thr)	KCNQ2 (P820T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855255	NM_172107.4(KCNQ2):c.2548G>A (p.Gly850Arg)	KCNQ2 (G822R +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2418576	NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1358807	NM_172107.4(KCNQ2):c.2546G>T (p.Cys849Phe)	KCNQ2 (C849F +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 138033	NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 205935	NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu)	KCNQ2 (P848L +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1401641	NM_172107.4(KCNQ2):c.2536T>C (p.Cys846Arg)	KCNQ2 (C815R +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1046700	NM_172107.4(KCNQ2):c.2536T>G (p.Cys846Gly)	KCNQ2 (C828G +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 1393417	NM_172107.4(KCNQ2):c.2533del (p.Leu845fs)	KCNQ2 (L817fs +4 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2753430	NM_172107.4(KCNQ2):c.2531A>G (p.Asp844Gly)	KCNQ2 (D844G +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 138032	NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=)	KCNQ2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2831017	NM_172107.4(KCNQ2):c.2524G>C (p.Asp842His)	KCNQ2 (D814H +4 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 705552	NM_172107.4(KCNQ2):c.2523C>T (p.Thr841=)	KCNQ2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1036650	NM_172107.4(KCNQ2):c.2516C>A (p.Ser839Ter)	KCNQ2 (S811* +4 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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