"Eurofins Ntd Llc (ga)"[submitter] AND "CDKL5"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94115	NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 136709	NM_001323289.2(CDKL5):c.145+17A>G	CDKL5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 2 +3 more	GBenign/Likely benign
Select item 94107	NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 286056	NM_001323289.2(CDKL5):c.212del (p.Asn71fs)	CDKL5 (N71fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 11503	NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)	CDKL5 (I72T)	Single nucleotide variant (missense variant)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 593574	NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val)	CDKL5 (D135V)	Single nucleotide variant (missense variant)	Angelman syndrome-like +2 more	GUncertain significance
Select item 282071	NM_001323289.2(CDKL5):c.463+5G>T	CDKL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 94113	NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)	CDKL5 (R178Q)	Single nucleotide variant (missense variant)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 198783	NM_001323289.2(CDKL5):c.541G>A (p.Glu181Lys)	CDKL5 (E181K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488478	NM_001323289.2(CDKL5):c.554+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic/Likely pathogenic
Select item 94114	NM_001323289.2(CDKL5):c.555-19C>G	CDKL5	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 501058	NM_001323289.2(CDKL5):c.713del (p.Phe238fs)	CDKL5 (F238fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 193651	NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser)	CDKL5 (N267S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 210642	NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 287828	NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs)	CDKL5 (N370fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 502250	NM_001323289.2(CDKL5):c.1111del (p.Ala372fs)	CDKL5 (A372fs)	Deletion (frameshift variant)	CDKL5 disorder +1 more	GPathogenic
Select item 194049	NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter)	CDKL5 (Y384*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 136711	NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +4 more	GBenign/Likely benign
Select item 288260	NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +3 more	GBenign/Likely benign
Select item 290315	NM_001323289.2(CDKL5):c.1365_1366insA (p.Gly456fs)	CDKL5 (G456fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 136712	NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +5 more	GBenign/Likely benign
Select item 284540	NM_001323289.2(CDKL5):c.1553del (p.Pro518fs)	CDKL5 (P518fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 94106	NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +3 more	GBenign
Select item 194048	NM_001323289.2(CDKL5):c.1891_1916del (p.Ile631fs)	CDKL5 (I631fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 143786	NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)	CDKL5 (I631T)	Single nucleotide variant (missense variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 286706	NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GLikely pathogenic FDA Recognized database
Select item 287225	NM_001323289.2(CDKL5):c.2152+10C>G	CDKL5	Single nucleotide variant (intron variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 496927	NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=)	CDKL5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 94108	NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)	CDKL5 (T734A)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 194499	NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)	CDKL5 (N748S)	Single nucleotide variant (missense variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 166820	NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=)	CDKL5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 136713	NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)	CDKL5 (Q791P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +5 more	GBenign
Select item 166821	NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 136714	NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=)	CDKL5	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 287145	NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 94109	NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)	CDKL5 (G885R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 189534	NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)	CDKL5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 2 +4 more	GBenign/Likely benign
Select item 598449	NM_003159.3(CDKL5):c.2797+10G>C	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 283858	NM_003159.3(CDKL5):c.2797+12G>T	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 285377	NM_000330.4(RS1):c.234G>A (p.Pro78=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 386178	NM_003159.3(CDKL5):c.2867G>A (p.Arg956His)	CDKL5, RS1 (R956H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 136716	NM_003159.3(CDKL5):c.2994C>T (p.Phe998=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 2 +4 more	GBenign
Select item 94110	NM_000330.4(RS1):c.184+3207C>T	CDKL5, RS1 (V999M)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 94111	NM_000330.4(RS1):c.184+3199G>A	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	CDKL5 disorder	GBenign FDA Recognized database
Select item 166822	NM_000330.4(RS1):c.184+3171C>T	CDKL5, RS1 (A1011T)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 500991	NM_003159.3(CDKL5):c.3074C>T (p.Ala1025Val)	CDKL5, RS1 (A1025V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 94112	NM_000330.4(RS1):c.184+3118C>T	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	CDKL5 disorder	GBenign FDA Recognized database

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Items: 47