C2748910[trait identifier] AND "RettBASE"[submitter] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189604	NM_003159.2(CDKL5):c.-440G>T	CDKL5, LOC121853052	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 189581	NM_003159.2(CDKL5):c.-253_99+?del	CDKL5, LOC130067999	Deletion	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 189578	NM_003159.2(CDKL5):c.-253_64+?del	LOC130067999, CDKL5	Deletion	Atypical Rett syndrome	GPathogenic
Select item 189576	NM_003159.2(CDKL5):c.(?_-253)_-162-27968del	CDKL5, LOC130067999	Deletion	Atypical Rett syndrome	GPathogenic
Select item 189602	NM_001323289.2(CDKL5):c.-189C>T	CDKL5	Single nucleotide variant (5 prime UTR variant)	CDKL5 disorder	GUncertain significance
Select item 11502	NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)	CDKL5 (A40V)	Single nucleotide variant (missense variant)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 156074	NM_001323289.2(CDKL5):c.145+2T>C	CDKL5	Single nucleotide variant (splice donor variant)	CDKL5 disorder	GPathogenic
Select item 143779	NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)	CDKL5 (E55fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 2 +2 more	GPathogenic/Likely pathogenic
Select item 143783	NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)	CDKL5 (R59*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +3 more	GPathogenic
Select item 143785	NM_001323289.2(CDKL5):c.183del (p.Met63fs)	CDKL5 (M63fs)	Deletion (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 156591	NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp)	CDKL5 (N71D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 143797	NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn)	CDKL5 (I72N)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely pathogenic
Select item 189585	NM_001323289.2(CDKL5):c.283-3_290del	CDKL5	Deletion (splice acceptor variant)	CDKL5 disorder	GPathogenic
Select item 143817	NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter)	CDKL5 (Q118*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 143818	NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)	CDKL5 (H127R)	Single nucleotide variant (missense variant)	Angelman syndrome-like +4 more	GPathogenic
Select item 189586	NM_001323289.2(CDKL5):c.403+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic
Select item 11496	NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)	CDKL5 (C152F)	Single nucleotide variant (missense variant)	CDKL5 disorder +1 more	GLikely pathogenic
Select item 156088	NM_001323289.2(CDKL5):c.463+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	CDKL5 disorder +2 more	GPathogenic
Select item 189591	NM_001323289.2(CDKL5):c.464-1G>A	CDKL5	Single nucleotide variant (splice acceptor variant)	CDKL5 disorder	GPathogenic
Select item 189593	NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs)	CDKL5 (Y171fs)	Duplication (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 11497	NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)	CDKL5 (R175S)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely pathogenic
Select item 189595	NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys)	CDKL5 (W176C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +2 more	GPathogenic
Select item 143823	NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)	CDKL5 (R178W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 143829	NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter)	CDKL5 (E203*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GPathogenic
Select item 189549	NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro)	CDKL5 (Q219P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 189597	NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs)	CDKL5 (T222fs)	Duplication (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 143834	NM_001323289.2(CDKL5):c.838_847del (p.Asp281fs)	CDKL5 (D281fs)	Deletion (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 189600	NM_001323289.2(CDKL5):c.942del (p.Lys314fs)	CDKL5 (K314fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 189553	NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter)	CDKL5 (E364*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GLikely pathogenic
Select item 143770	NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr)	CDKL5 (N399T)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 189601	NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu)	CDKL5 (D422E)	Single nucleotide variant (missense variant)	CDKL5 disorder	GUncertain significance
Select item 143774	NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs)	CDKL5 (S438fs)	Duplication (frameshift variant)	CDKL5 disorder	GPathogenic FDA Recognized database
Select item 189555	NM_001323289.2(CDKL5):c.1341del (p.Phe447fs)	CDKL5 (F447fs)	Deletion (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 189556	NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)	CDKL5 (Q459*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +2 more	GPathogenic
Select item 189557	NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs)	CDKL5 (I473fs)	Duplication (frameshift variant)	CDKL5 disorder	GLikely pathogenic
Select item 189560	NM_001323289.2(CDKL5):c.1550del (p.Phe517fs)	CDKL5 (F517fs)	Deletion (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 143780	NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	CDKL5 (R550*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 143781	NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	CDKL5 (R559*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 143782	NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter)	CDKL5 (E570*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GLikely pathogenic
Select item 189567	NM_001323289.2(CDKL5):c.1854del (p.Asp618fs)	CDKL5 (D618fs)	Deletion (frameshift variant)	CDKL5 disorder	GPathogenic
Select item 143787	NM_001323289.2(CDKL5):c.1892_1893dup (p.Gly632Ter)	CDKL5 (G632*)	Duplication (nonsense)	CDKL5 disorder	GPathogenic
Select item 143794	NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)	CDKL5	Indel	Atypical Rett syndrome	GPathogenic
Select item 189568	NM_001323289.2(CDKL5):c.2046+1G>A	CDKL5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 2 +3 more	GPathogenic
Select item 156077	NM_001323289.2(CDKL5):c.2047-1G>A	CDKL5	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 2 +2 more	GPathogenic
Select item 143801	NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)	CDKL5 (R781fs)	Deletion (frameshift variant)	Angelman syndrome-like +1 more	GPathogenic
Select item 156082	NM_001323289.2(CDKL5):c.2376+5G>A	CDKL5	Single nucleotide variant (intron variant)	CDKL5 disorder	GLikely pathogenic
Select item 11500	NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	CDKL5 (Q834*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +2 more	GConflicting classifications of pathogenicity
Select item 143809	NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)	CDKL5 (L879fs)	Deletion (frameshift variant)	CDKL5 disorder +3 more	GPathogenic/Likely pathogenic
Select item 189583	NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter)	CDKL5 (Q902*)	Single nucleotide variant (nonsense)	CDKL5 disorder	GLikely pathogenic
Select item 189603	NM_000330.4(RS1):c.326+1231G>A	CDKL5, RS1	Single nucleotide variant (intron variant)	CDKL5 disorder	GUncertain significance
Select item 143812	NM_000330.4(RS1):c.185-3188G>A	CDKL5, RS1 (R970*)	Single nucleotide variant (nonsense +1 more)	CDKL5 disorder	GBenign FDA Recognized database
Select item 189662	NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs)	MECP2 (P387fs +3 more)	Deletion (frameshift variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 11833	NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)	MECP2 (Y141* +2 more)	Single nucleotide variant (nonsense +1 more)	Rett syndrome +3 more	GPathogenic
Select item 189587	NM_003159.2(CDKL5):c.404-?_554+?del	CDKL5	Deletion	Atypical Rett syndrome	GPathogenic
Select item 189564	NM_003159.2(CDKL5):c.-162-?_99+?del	CDKL5	Deletion	Atypical Rett syndrome +1 more	GPathogenic

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Items: 55