ClinVar for MedGen (Select 1663579) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338396	NM_001323289.2(CDKL5):c.827A>G (p.Asn276Ser)	CDKL5 (N276S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 3336621	NM_001323289.2(CDKL5):c.1037_1038delinsCAGATCTAA (p.Ile346fs)	CDKL5 (I346fs)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3255612	NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)	CDKL5 (T472fs)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3254616	NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)	CDKL5 (P654L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 3244366	NC_000023.10:g.(?_18534398)_(18600033_?)del	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3244354	NC_000023.10:g.(?_18525053)_(18623008_?)dup	CDKL5	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3244343	NC_000023.10:g.(?_18660124)_(18690188_?)dup	CDKL5, RS1	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3244334	NC_000023.10:g.(?_18599991)_(18600090_?)dup	CDKL5	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3244325	NC_000023.10:g.(?_18525053)_(18671664_?)dup	CDKL5, RS1	Duplication	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3244315	NC_000023.10:g.(?_18593454)_(18598108_?)del	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3244304	NC_000023.10:g.(?_18593454)_(18690188_?)del	CDKL5, RS1	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3244293	NC_000023.10:g.(?_18582577)_(18598108_?)del	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3244282	NC_000023.10:g.(?_18525053)_(18662765_?)del	CDKL5, RS1	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3244271	NC_000023.10:g.(?_18626911)_(18643387_?)del	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3244260	NC_000023.10:g.(?_18525053)_(18525300_?)del	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Intellectual disability, X-linked 19 +5 more	GPathogenic
Select item 3235042	NM_001323289.2(CDKL5):c.1744del (p.Ser582fs)	CDKL5 (S582fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3065134	NM_003159.2(CDKL5):c.464_484del	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3062268	NM_000330.4(RS1):c.326+1111del	CDKL5, RS1 (E930fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 2953997	NM_001323289.2(CDKL5):c.2099A>G (p.Asn700Ser)	CDKL5 (N700S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2953942	NM_001323289.2(CDKL5):c.1463G>C (p.Ser488Thr)	CDKL5 (S488T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2953907	NM_001323289.2(CDKL5):c.1314C>A (p.Ser438Arg)	CDKL5 (S438R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2953794	NM_001323289.2(CDKL5):c.1164C>T (p.Ser388=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2953640	NM_001323289.2(CDKL5):c.1339T>C (p.Phe447Leu)	CDKL5 (F447L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2953238	NM_000330.4(RS1):c.185-3209T>C	CDKL5, RS1 (T977A)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2953180	NM_001323289.2(CDKL5):c.1330_1342del (p.Arg444fs)	CDKL5 (R444fs)	Deletion (frameshift variant)	Angelman syndrome-like +1 more	GPathogenic
Select item 2953179	NM_001323289.2(CDKL5):c.1328A>T (p.Asn443Ile)	CDKL5 (N443I)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2953048	NM_001323289.2(CDKL5):c.1613C>A (p.Thr538Lys)	CDKL5 (T538K)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2953034	NM_001323289.2(CDKL5):c.2047-15T>A	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2952939	NM_000330.4(RS1):c.326+1095C>A	CDKL5, RS1	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2952563	NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)	CDKL5 (K751fs)	Duplication (frameshift variant)	Angelman syndrome-like +1 more	GPathogenic
Select item 2952557	NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)	CDKL5 (R563S)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GBenign
Select item 2952556	NM_000330.4(RS1):c.185-3159C>T	CDKL5, RS1 (S960N)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2951623	NM_001323289.2(CDKL5):c.2570C>G (p.Pro857Arg)	CDKL5 (P857R)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2951612	NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)	CDKL5 (E21K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2951544	NM_001323289.2(CDKL5):c.2129G>A (p.Arg710Lys)	CDKL5 (R710K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2951292	NM_001323289.2(CDKL5):c.1741del (p.His581fs)	CDKL5 (H581fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2951012	NM_001323289.2(CDKL5):c.2152+9A>T	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2950722	NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)	CDKL5	Insertion (nonsense +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2950640	NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)	CDKL5 (V172G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2950636	NM_001323289.2(CDKL5):c.440A>T (p.Asp147Val)	CDKL5 (D147V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2950136	NM_001323289.2(CDKL5):c.1297T>C (p.Tyr433His)	CDKL5 (Y433H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2950048	NM_001323289.2(CDKL5):c.555-19C>A	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2949339	NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)	CDKL5 (W195C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely pathogenic
Select item 2949237	NM_001323289.2(CDKL5):c.404-6C>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2949148	NM_001323289.2(CDKL5):c.2496+16A>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2948998	NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)	CDKL5 (Y168*)	Duplication (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2948947	NM_001323289.2(CDKL5):c.283-8A>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2948779	NM_001323289.2(CDKL5):c.1166A>T (p.Gln389Leu)	CDKL5 (Q389L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2948293	NM_001323289.2(CDKL5):c.907C>T (p.Leu303=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2948100	NM_001323289.2(CDKL5):c.2296A>T (p.Ser766Cys)	CDKL5 (S766C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2947902	NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)	CDKL5 (P209T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely pathogenic
Select item 2947814	NM_001323289.2(CDKL5):c.1540A>G (p.Ser514Gly)	CDKL5 (S514G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2947097	NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)	CDKL5 (R822fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2946311	NM_001323289.2(CDKL5):c.728G>A (p.Arg243His)	CDKL5 (R243H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2946218	NM_000330.4(RS1):c.185-3120G>T	CDKL5, RS1 (P947Q)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2946090	NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)	CDKL5 (Y86*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2946007	NM_001323289.2(CDKL5):c.179A>G (p.Glu60Gly)	CDKL5 (E60G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2945903	NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)	CDKL5 (D800fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2945837	NM_001323289.2(CDKL5):c.463+16A>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2945233	NM_001323289.2(CDKL5):c.2704C>A (p.Gln902Lys)	CDKL5 (Q902K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2945099	NM_001323289.2(CDKL5):c.2529dup (p.His844fs)	CDKL5 (H844fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2945065	NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)	CDKL5 (R261fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2944977	NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)	CDKL5 (E55*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2944760	NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)	CDKL5 (S394fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2944551	NM_000330.4(RS1):c.185-3203A>T	CDKL5, RS1 (C975S)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2944504	NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)	CDKL5 (K485fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2944102	NM_001323289.2(CDKL5):c.146-16A>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2943904	NM_001323289.2(CDKL5):c.2655G>A (p.Gly885=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2943160	NM_001323289.2(CDKL5):c.2276+1G>T	CDKL5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2942911	NM_001323289.2(CDKL5):c.282+15G>A	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2942811	NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)	CDKL5 (G25V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2942696	NM_001323289.2(CDKL5):c.1552C>T (p.Pro518Ser)	CDKL5 (P518S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2942583	NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)	CDKL5 (E139A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2942250	NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)	CDKL5 (R175K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely pathogenic
Select item 2942111	NM_001323289.2(CDKL5):c.46del (p.Val18fs)	CDKL5 (V18fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2942042	NM_001323289.2(CDKL5):c.317G>A (p.Gly106Glu)	CDKL5 (G106E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2942012	NM_001323289.2(CDKL5):c.767A>G (p.Gln256Arg)	CDKL5 (Q256R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2941992	NM_000330.4(RS1):c.185-3103T>C	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome-like +1 more	GLikely benign
Select item 2941902	NM_001323289.2(CDKL5):c.2695C>G (p.Pro899Ala)	CDKL5 (P899A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2941767	NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)	CDKL5 (K789del)	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 2 +1 more	GBenign
Select item 2941715	NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)	CDKL5 (W759*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 2941587	NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)	CDKL5 (H133Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely pathogenic
Select item 2941518	NM_001323289.2(CDKL5):c.2555C>G (p.Pro852Arg)	CDKL5 (P852R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2941377	NM_001323289.2(CDKL5):c.678G>T (p.Val226=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2940685	NM_001323289.2(CDKL5):c.2376+11G>T	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2940104	NM_001323289.2(CDKL5):c.1821T>C (p.Arg607=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2940079	NM_001323289.2(CDKL5):c.1837A>G (p.Met613Val)	CDKL5 (M613V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 2939964	NM_001323289.2(CDKL5):c.282+18A>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2939760	NM_001323289.2(CDKL5):c.745-20C>A	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 2939578	NM_001323289.2(CDKL5):c.2530C>A (p.His844Asn)	CDKL5 (H844N)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2939318	NM_000330.4(RS1):c.184+3232C>G	CDKL5, RS1	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2939142	NM_001323289.2(CDKL5):c.1554A>G (p.Pro518=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2938887	NM_001323289.2(CDKL5):c.532C>A (p.Arg178=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2938835	NM_001323289.2(CDKL5):c.2193T>C (p.Asn731=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2938600	NM_001323289.2(CDKL5):c.2153-10C>G	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2938134	NM_001323289.2(CDKL5):c.1387A>G (p.Lys463Glu)	CDKL5 (K463E)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2938033	NM_001323289.2(CDKL5):c.2153-20C>A	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2937974	NM_001323289.2(CDKL5):c.2685G>A (p.Pro895=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2937852	NM_000330.4(RS1):c.185-3120G>A	CDKL5, RS1 (P947L)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance

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