"CDKL5-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039544	NM_001323289.2(CDKL5):c.-7T>G	CDKL5	Single nucleotide variant (5 prime UTR variant)	CDKL5-related condition	GLikely benign
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 94107	NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 143789	NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln)	CDKL5 (R65Q)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 143818	NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)	CDKL5 (H127R)	Single nucleotide variant (missense variant)	CDKL5-related condition +3 more	GPathogenic
Select item 588018	NM_001323289.2(CDKL5):c.480G>C (p.Leu160=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5-related condition +4 more	GLikely benign
Select item 189592	NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)	CDKL5 (T169fs)	Microsatellite (frameshift variant)	CDKL5-related condition +2 more	GPathogenic
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 2630283	NM_001323289.2(CDKL5):c.1109A>G (p.Asn370Ser)	CDKL5 (N370S)	Single nucleotide variant (missense variant)	CDKL5-related condition	GUncertain significance
Select item 143775	NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)	CDKL5 (R444C)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 156642	NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)	CDKL5	Deletion (inframe_deletion)	CDKL5 disorder	GBenign FDA Recognized database
Select item 143778	NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)	CDKL5 (I508T)	Single nucleotide variant (missense variant)	CDKL5 disorder	GBenign FDA Recognized database
Select item 2632642	NM_001323289.2(CDKL5):c.1555T>C (p.Ser519Pro)	CDKL5 (S519P)	Single nucleotide variant (missense variant)	CDKL5-related condition	GUncertain significance
Select item 156684	NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg)	CDKL5 (G546R)	Single nucleotide variant (missense variant)	Angelman syndrome-like +2 more	GConflicting classifications of pathogenicity
Select item 533391	NM_001323289.2(CDKL5):c.1692T>C (p.His564=)	CDKL5	Single nucleotide variant (synonymous variant)	Angelman syndrome-like +3 more	GLikely benign
Select item 94106	NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)	CDKL5	Single nucleotide variant (synonymous variant)	CDKL5-related condition +4 more	GBenign
Select item 1165086	NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=)	CDKL5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
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 1648546	NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met)	CDKL5 (V732M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +3 more	GConflicting classifications of pathogenicity
Select item 377094	NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)	CDKL5 (R822H)	Single nucleotide variant (missense variant)	CDKL5 disorder	GLikely benign FDA Recognized database
Select item 156652	NM_001323289.2(CDKL5):c.2469del (p.Glu824fs)	CDKL5 (E824fs)	Deletion (frameshift variant)	CDKL5-related condition +1 more	GPathogenic
Select item 1700932	NM_001323289.2(CDKL5):c.2822A>G (p.Tyr941Cys)	CDKL5 (Y941C)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 2636030	NM_001323289.2(CDKL5):c.2847G>A (p.Met949Ile)	CDKL5 (M949I)	Single nucleotide variant (missense variant +1 more)	CDKL5-related condition	GUncertain significance
Select item 156693	NM_000330.4(RS1):c.326+1159C>G	CDKL5, RS1 (Q913H)	Single nucleotide variant (missense variant +1 more)	CDKL5 disorder	GLikely benign FDA Recognized database
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 156695	NM_000330.4(RS1):c.184+3194A>G	CDKL5, RS1 (M1003T)	Single nucleotide variant (missense variant +1 more)	CDKL5-related condition +3 more	GConflicting classifications of pathogenicity
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: 27