ClinVar for MedGen (Select 1663579) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3776087	NM_001323289.2(CDKL5):c.100-31T>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 3776027	NM_003159.3(CDKL5):c.2927dup (p.Thr977fs)	CDKL5, RS1 (T977fs)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3776008	NM_001323289.2(CDKL5):c.415_416dup (p.Asn140fs)	CDKL5 (N140fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3773736	NM_001323289.2(CDKL5):c.52dup (p.Val18fs)	CDKL5 (V18fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3773729	NM_001323289.2(CDKL5):c.2668del (p.Arg890fs)	CDKL5 (R890fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3764575	NM_001037343.2(CDKL5):c.3034del (p.Gln1012fs)	CDKL5, RS1 (Q1012fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3764554	NM_001323289.2(CDKL5):c.529T>C (p.Tyr177His)	CDKL5 (Y177H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3764096	NM_001323289.2(CDKL5):c.2152+1G>C	CDKL5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3763585	NC_000023.11:g.18650527C>T	CDKL5, RS1 (T972I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3762855	NM_001323289.2(CDKL5):c.2032C>T (p.Arg678Cys)	CDKL5 (R678C)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 3762768	NM_001323289.2(CDKL5):c.2218C>G (p.Pro740Ala)	CDKL5 (P740A)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3762311	NM_001323289.2(CDKL5):c.660T>C (p.Leu220=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3762028	NC_000023.11:g.18650548A>G	CDKL5, RS1 (Q979R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3761510	NC_000023.11:g.18653433G>T	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3761307	NM_001323289.2(CDKL5):c.615C>T (p.Ser205=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3760548	NM_001323289.2(CDKL5):c.2053G>A (p.Val685Met)	CDKL5 (V685M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3760484	NC_000023.11:g.18653514C>T	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3760316	NM_001323289.2(CDKL5):c.2034C>T (p.Arg678=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3760284	NM_001323289.2(CDKL5):c.1065G>A (p.Arg355=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3759887	NM_001323289.2(CDKL5):c.1106del (p.Gly369fs)	CDKL5 (G369fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3759865	NM_001323289.2(CDKL5):c.1209A>G (p.Pro403=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3759863	NM_001323289.2(CDKL5):c.2153-17A>C	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3759485	NM_001323289.2(CDKL5):c.1425G>A (p.Gln475=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3759407	NM_001323289.2(CDKL5):c.2497-3C>T	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GBenign
Select item 3759264	NM_001323289.2(CDKL5):c.658del (p.Leu220fs)	CDKL5 (L220fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3759215	NC_000023.11:g.18650488C>G	CDKL5, RS1 (S959C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3759182	NM_001323289.2(CDKL5):c.2466C>T (p.Arg822=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3758729	NM_001323289.2(CDKL5):c.2027A>G (p.His676Arg)	CDKL5 (H676R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3758276	NM_001323289.2(CDKL5):c.1988C>T (p.Ser663Leu)	CDKL5 (S663L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3756965	NM_001323289.2(CDKL5):c.825+10A>G	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3756908	NM_001323289.2(CDKL5):c.105A>G (p.Thr35=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3756726	NM_001323289.2(CDKL5):c.2496+18C>G	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3756395	NM_001323289.2(CDKL5):c.2325_2326dup (p.Lys776fs)	CDKL5 (K776fs)	Microsatellite (frameshift variant)	Angelman syndrome-like +1 more	GPathogenic
Select item 3756339	NM_001323289.2(CDKL5):c.758del (p.Asn253fs)	CDKL5 (N253fs)	Deletion (frameshift variant)	Angelman syndrome-like +1 more	GPathogenic
Select item 3756301	NC_000023.11:g.18619867del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3755110	NM_001323289.2(CDKL5):c.554+7_554+12del	CDKL5	Deletion (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3754381	NM_001323289.2(CDKL5):c.145+5AT[9]	CDKL5	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3753781	NM_001323289.2(CDKL5):c.2711C>T (p.Pro904Leu)	CDKL5 (P904L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753780	NM_001323289.2(CDKL5):c.2706G>C (p.Gln902His)	CDKL5 (Q902H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753779	NM_001323289.2(CDKL5):c.2111A>G (p.Tyr704Cys)	CDKL5 (Y704C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753778	NM_001323289.2(CDKL5):c.2089C>G (p.Pro697Ala)	CDKL5 (P697A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3753777	NM_001323289.2(CDKL5):c.1772C>A (p.Ser591Tyr)	CDKL5 (S591Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753776	NM_001323289.2(CDKL5):c.1767C>A (p.His589Gln)	CDKL5 (H589Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753775	NM_001323289.2(CDKL5):c.1669T>C (p.Ser557Pro)	CDKL5 (S557P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753774	NM_001323289.2(CDKL5):c.1640G>A (p.Arg547Lys)	CDKL5 (R547K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753773	NM_001323289.2(CDKL5):c.1075G>A (p.Gly359Ser)	CDKL5 (G359S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753772	NM_001323289.2(CDKL5):c.544C>T (p.Leu182Phe)	CDKL5 (L182F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely pathogenic
Select item 3753771	NM_001323289.2(CDKL5):c.79G>T (p.Val27Leu)	CDKL5 (V27L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3753525	NM_001323289.2(CDKL5):c.301G>T (p.Glu101Ter)	CDKL5 (E101*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3753504	NM_001323289.2(CDKL5):c.351T>G (p.Tyr117Ter)	CDKL5 (Y117*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3752448	NC_000023.11:g.18653537G>T	CDKL5, RS1 (G1029V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3750726	NM_001323289.2(CDKL5):c.555-9A>G	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3750503	NC_000023.11:g.18650581C>T	CDKL5, RS1 (T990I)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3750317	NM_001323289.2(CDKL5):c.2180T>C (p.Phe727Ser)	CDKL5 (F727S)	Single nucleotide variant (missense variant)	Angelman syndrome-like +1 more	GUncertain significance
Select item 3750013	NM_001323289.2(CDKL5):c.404-15dup	CDKL5	Duplication (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3749963	NM_001323289.2(CDKL5):c.2153-10C>A	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3749678	NM_001323289.2(CDKL5):c.1152C>T (p.Tyr384=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3749584	NM_001323289.2(CDKL5):c.978-14T>C	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3749486	NM_001323289.2(CDKL5):c.2277-8T>C	CDKL5	Single nucleotide variant (intron variant)	Angelman syndrome-like +1 more	GLikely benign
Select item 3749216	NM_001323289.2(CDKL5):c.327T>A (p.Pro109=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3748474	NM_001323289.2(CDKL5):c.2668C>T (p.Arg890Trp)	CDKL5 (R890W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3748223	NC_000023.11:g.18650592G>T	CDKL5, RS1 (G994W)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
Select item 3748022	NM_001323289.2(CDKL5):c.2046+19T>C	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +1 more	GLikely benign
Select item 3629450	NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)	CDKL5 (Q219*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3602047	NM_001323289.2(CDKL5):c.1153C>T (p.Gln385Ter)	CDKL5 (Q385*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 3600953	NM_001323289.2(CDKL5):c.1952A>G (p.Glu651Gly)	CDKL5 (E651G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3489606	NM_001323289.2(CDKL5):c.1414A>G (p.Thr472Ala)	CDKL5 (T472A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +2 more	GUncertain significance
Select item 3391122	NM_001323289.2(CDKL5):c.1464_1488del (p.His489fs)	CDKL5 (H489fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3390063	NM_001323289.2(CDKL5):c.1969A>G (p.Met657Val)	CDKL5 (M657V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3384225	NM_001323289.2(CDKL5):c.2530del (p.His844fs)	CDKL5 (H844fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 3384179	Single allele	CDKL5	Deletion	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3382547	NM_001323289.2(CDKL5):c.1337C>G (p.Ser446Ter)	CDKL5 (S446*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 3381752	NM_001323289.2(CDKL5):c.873T>G (p.Cys291Trp)	CDKL5 (C291W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3377329	NM_001323289.2(CDKL5):c.2120C>G (p.Pro707Arg)	CDKL5 (P707R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GUncertain significance
Select item 3344011	NM_001323289.2(CDKL5):c.536C>T (p.Ser179Phe)	CDKL5 (S179F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance
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 3265535	NM_003159.3(CDKL5):c.2972A>G (p.Gln991Arg)	CDKL5, RS1 (Q991R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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	Angelman syndrome-like +1 more	GPathogenic
Select item 3244354	NC_000023.10:g.(?_18525053)_(18623008_?)dup	CDKL5	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244343	NC_000023.10:g.(?_18660124)_(18690188_?)dup	CDKL5, RS1	Duplication	Angelman syndrome-like +1 more	GUncertain significance
Select item 3244334	NC_000023.10:g.(?_18599991)_(18600090_?)dup	CDKL5	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 3244315	NC_000023.10:g.(?_18593454)_(18598108_?)del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244304	NC_000023.10:g.(?_18593454)_(18690188_?)del	CDKL5, RS1	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244293	NC_000023.10:g.(?_18582577)_(18598108_?)del	CDKL5	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 3244271	NC_000023.10:g.(?_18626911)_(18643387_?)del	CDKL5	Deletion	Angelman syndrome-like +1 more	GPathogenic
Select item 3244260	NC_000023.10:g.(?_18525053)_(18525300_?)del	CDKL5	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 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_001037343.2(CDKL5):c.2787del (p.Glu930fs)	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)	Angelman syndrome-like +1 more	GBenign
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	NC_000023.11:g.18650541A>G	CDKL5, RS1 (T977A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 2 +1 more	GUncertain significance

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