ClinVar for Gene (Select 6247) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378172	NM_003159.3(CDKL5):c.2999G>A (p.Arg1000Lys)	CDKL5, RS1 (R1000K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3363888	NM_000330.4(RS1):c.184+3146A>T	CDKL5, RS1 (L1019Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342270	NM_000330.4(RS1):c.375_389del (p.Asp126_Ile130del)	CDKL5, RS1	Deletion (inframe_deletion +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 3339552	NM_000330.4(RS1):c.365G>A (p.Trp122Ter)	CDKL5, RS1 (W122*)	Single nucleotide variant (intron variant +1 more)	Juvenile retinoschisis	GPathogenic
Select item 3336578	NM_000330.4(RS1):c.583A>G (p.Ile195Val)	CDKL5, RS1 (I195V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315494	NM_000330.4(RS1):c.140A>G (p.Asn47Ser)	RS1 (N47S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3315493	NM_000330.4(RS1):c.14T>C (p.Ile5Thr)	RS1 (I5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265535	NM_003159.3(CDKL5):c.2972A>G (p.Gln991Arg)	CDKL5, RS1 (Q991R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3245777	NC_000023.10:g.(?_18662530)_(18665472_?)del	CDKL5, RS1	Deletion	not provided	GPathogenic
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3244343	NC_000023.10:g.(?_18660124)_(18690188_?)dup	CDKL5, RS1	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244325	NC_000023.10:g.(?_18525053)_(18671664_?)dup	CDKL5, RS1	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244304	NC_000023.10:g.(?_18593454)_(18690188_?)del	CDKL5, RS1	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244282	NC_000023.10:g.(?_18525053)_(18662765_?)del	CDKL5, RS1	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3220934	NM_000330.4(RS1):c.395T>G (p.Val132Gly)	CDKL5, RS1 (V132G)	Single nucleotide variant (missense variant +1 more)	Retinoschisis	GLikely pathogenic
Select item 3156568	NM_000330.4(RS1):c.125G>A (p.Cys42Tyr)	RS1 (C42Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069001	NC_000023.10:g.(18668713_18671551)_(18671750_?)del	CDKL5, RS1	Deletion	not specified	GUncertain significance
Select item 3062524	GRCh37/hg19 Xp22.13(chrX:18660647-18876579)	CDKL5, PPEF1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3062268	NM_001037343.2(CDKL5):c.2787del (p.Glu930fs)	CDKL5, RS1 (E930fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3035108	NM_000330.4(RS1):c.*2G>T	CDKL5, RS1	Single nucleotide variant (3 prime UTR variant +1 more)	RS1-related disorder	GLikely benign
Select item 3026827	NM_003159.3(CDKL5):c.3034C>T (p.Gln1012Ter)	CDKL5, RS1 (Q1012*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3021833	NM_000330.4(RS1):c.52+18A>G	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017518	NM_000330.4(RS1):c.523-4C>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016887	NM_000330.4(RS1):c.519C>T (p.Asn173=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016839	NM_000330.4(RS1):c.621C>A (p.His207Gln)	CDKL5, RS1 (H207Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3014742	NM_000330.4(RS1):c.53-13C>T	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014221	NM_000330.4(RS1):c.423C>A (p.Arg141=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003973	NM_000330.4(RS1):c.629T>C (p.Ile210Thr)	CDKL5, RS1 (I210T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2997443	NM_000330.4(RS1):c.523-20G>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993743	NM_000330.4(RS1):c.522+11C>G	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993324	NM_000330.4(RS1):c.297C>T (p.Asn99=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982444	NM_000330.4(RS1):c.52+6T>A	RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2982432	NM_000330.4(RS1):c.505C>T (p.Gln169Ter)	CDKL5, RS1 (Q169*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2981859	NM_000330.4(RS1):c.327-17C>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966159	NM_000330.4(RS1):c.78+11G>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957598	NM_000330.4(RS1):c.268G>C (p.Val90Leu)	CDKL5, RS1 (V90L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2953238	NC_000023.11:g.18650541A>G	CDKL5, RS1 (T977A)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2952939	NC_000023.11:g.18646096G>T	CDKL5, RS1	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2952556	NC_000023.11:g.18650491G>A	CDKL5, RS1 (S960N)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2946218	NC_000023.11:g.18650452C>A	CDKL5, RS1 (P947Q)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2944551	NC_000023.11:g.18650535T>A	CDKL5, RS1 (C975S)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2941992	NC_000023.11:g.18650435A>G	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome-like +1 more	GLikely benign
Select item 2939318	NC_000023.11:g.18653421G>C	CDKL5, RS1	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 2937852	NC_000023.11:g.18650452C>T	CDKL5, RS1 (P947L)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2936727	NM_003159.3(CDKL5):c.2741_2742del (p.Arg914fs)	CDKL5, RS1 (R914fs)	Microsatellite (frameshift variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2934711	NC_000023.11:g.18650467G>A	CDKL5, RS1 (R952Q)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2934592	NC_000023.11:g.18653536G>A	CDKL5, RS1 (G1029S)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GLikely benign
Select item 2934175	NC_000023.11:g.18646036C>T	CDKL5, RS1 (H915Y)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2931193	NC_000023.11:g.18653508G>C	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome-like +1 more	GLikely benign
Select item 2931117	NC_000023.11:g.18653492A>G	CDKL5, RS1 (N1014S)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2928682	NC_000023.11:g.18653413G>A	CDKL5, RS1	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GBenign
Select item 2925149	NC_000023.11:g.18650489C>T	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome-like +1 more	GLikely benign
Select item 2922765	NC_000023.11:g.18650457G>A	CDKL5, RS1 (V949I)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GLikely benign
Select item 2921875	NC_000023.11:g.18650499C>G	CDKL5, RS1 (P963A)	Single nucleotide variant (missense variant +1 more)	Angelman syndrome-like +1 more	GUncertain significance
Select item 2921813	NC_000023.11:g.18646086A>G	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Angelman syndrome-like +1 more	GLikely benign
Select item 2914229	NM_000330.4(RS1):c.326+13C>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913698	NM_000330.4(RS1):c.185-29_185-17del	CDKL5, RS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2908572	NM_000330.4(RS1):c.522+18C>G	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905317	NM_000330.4(RS1):c.171G>A (p.Leu57=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904640	NM_000330.4(RS1):c.326+19T>A	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901748	NM_000330.4(RS1):c.251C>G (p.Ser84Cys)	CDKL5, RS1 (S84C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2896584	NM_000330.4(RS1):c.132A>G (p.Gly44=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893056	NM_000330.4(RS1):c.435T>C (p.Asp145=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893048	NM_000330.4(RS1):c.522+17C>G	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889273	NM_000330.4(RS1):c.523-11T>C	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884410	NM_000330.4(RS1):c.420G>A (p.Gly140=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878558	NM_000330.4(RS1):c.552C>T (p.Ser184=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866389	NM_000330.4(RS1):c.617G>T (p.Trp206Leu)	CDKL5, RS1 (W206L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2864545	NM_000330.4(RS1):c.53-18C>T	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863942	NM_000330.4(RS1):c.185-4C>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854626	NM_000330.4(RS1):c.327-5G>C	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852799	NM_000330.4(RS1):c.534C>G (p.Gly178=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848490	NM_000330.4(RS1):c.185-17T>A	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842378	NM_000330.4(RS1):c.79-7G>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839285	NM_000330.4(RS1):c.327-5G>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839277	NM_000330.4(RS1):c.399T>C (p.Ile133=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2837704	NM_000330.4(RS1):c.565C>T (p.Leu189=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832889	NM_000330.4(RS1):c.475G>A (p.Glu159Lys)	CDKL5, RS1 (E159K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2827585	NM_000330.4(RS1):c.651G>A (p.Leu217=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820497	NM_000330.4(RS1):c.369A>G (p.Leu123=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820417	NM_000330.4(RS1):c.79-18C>A	RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819736	NM_000330.4(RS1):c.108A>G (p.Lys36=)	RS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819487	NM_000330.4(RS1):c.327-2_337del	CDKL5, RS1	Deletion (intron variant +1 more)	not provided	GPathogenic
Select item 2809793	NM_000330.4(RS1):c.398T>C (p.Ile133Thr)	CDKL5, RS1 (I133T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2803819	NM_000330.4(RS1):c.192A>G (p.Pro64=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798410	NM_000330.4(RS1):c.222G>A (p.Gly74=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796028	NM_000330.4(RS1):c.326+14G>C	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787230	NM_000330.4(RS1):c.389T>A (p.Ile130Asn)	CDKL5, RS1 (I130N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2785684	NM_000330.4(RS1):c.37C>G (p.Leu13Val)	RS1 (L13V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2775673	NM_000330.4(RS1):c.619C>A (p.His207Asn)	CDKL5, RS1 (H207N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2771556	NM_000330.4(RS1):c.326+13C>A	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765788	NM_000330.4(RS1):c.53-8T>A	RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2763394	NM_000330.4(RS1):c.201G>A (p.Lys67=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762795	NM_000330.4(RS1):c.522+10G>A	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756107	NM_000330.4(RS1):c.315T>C (p.Ser105=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2755295	NM_000330.4(RS1):c.326+11C>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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