"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3249908	NC_000023.11:g.(?_18642003)_(18647333_18656652)del	CDKL5, RS1	Deletion	Retinal dystrophy	GPathogenic
Select item 99015	NM_000330.4(RS1):c.655T>C (p.Cys219Arg)	CDKL5, RS1 (C219R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99013	NM_000330.4(RS1):c.643G>C (p.Glu215Gln)	CDKL5, RS1 (E215Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 99010	NM_000330.4(RS1):c.638G>A (p.Arg213Gln)	CDKL5, RS1 (R213Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 1381863	NM_000330.4(RS1):c.637del (p.Arg213fs)	CDKL5, RS1 (R213fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 99009	NM_000330.4(RS1):c.637C>T (p.Arg213Trp)	CDKL5, RS1 (R213W)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic
Select item 99007	NM_000330.4(RS1):c.626G>A (p.Arg209His)	CDKL5, RS1 (R209H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 99006	NM_000330.4(RS1):c.625C>T (p.Arg209Cys)	CDKL5, RS1 (R209C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic/Likely pathogenic
Select item 99003	NM_000330.4(RS1):c.618G>A (p.Trp206Ter)	CDKL5, RS1 (W206*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 3249909	NM_000330.4(RS1):c.617G>A (p.Trp206Ter)	CDKL5, RS1 (W206*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GPathogenic
Select item 1486943	NM_000330.4(RS1):c.617G>C (p.Trp206Ser)	CDKL5, RS1 (W206S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 9895	NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	CDKL5, RS1 (P203L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3249819	NM_000330.4(RS1):c.602T>G (p.Leu201Arg)	CDKL5, RS1 (L201R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 99001	NM_000330.4(RS1):c.599G>A (p.Arg200His)	CDKL5, RS1 (R200H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 99000	NM_000330.4(RS1):c.598C>T (p.Arg200Cys)	CDKL5, RS1 (R200C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic/Likely pathogenic
Select item 3249806	NM_000330.4(RS1):c.590G>T (p.Arg197Leu)	CDKL5, RS1 (R197L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 98997	NM_000330.4(RS1):c.590G>A (p.Arg197His)	CDKL5, RS1 (R197H)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic/Likely pathogenic
Select item 3249761	NM_000330.4(RS1):c.589C>G (p.Arg197Gly)	CDKL5, RS1 (R197G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98996	NM_000330.4(RS1):c.589C>T (p.Arg197Cys)	CDKL5, RS1 (R197C)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 3249946	NM_000330.4(RS1):c.587C>T (p.Ser196Phe)	CDKL5, RS1 (S196F)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 98995	NM_000330.4(RS1):c.579dup (p.Ile194fs)	CDKL5, RS1 (I194fs)	Duplication (frameshift variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic/Likely pathogenic
Select item 68076	NM_000330.4(RS1):c.579del (p.Ile194fs)	CDKL5, RS1 (I194fs)	Deletion (frameshift variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic
Select item 98994	NM_000330.4(RS1):c.578C>T (p.Pro193Leu)	CDKL5, RS1 (P193L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 3249913	NM_000330.4(RS1):c.567_576dup (p.Pro193fs)	CDKL5, RS1 (P193fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98990	NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	CDKL5, RS1 (P192S)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic
Select item 98989	NM_000330.4(RS1):c.574C>A (p.Pro192Thr)	CDKL5, RS1 (P192T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 3249756	NM_000330.4(RS1):c.566dup (p.Leu190fs)	CDKL5, RS1 (L190fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249769	NM_000330.4(RS1):c.559C>T (p.Gln187Ter)	CDKL5, RS1 (Q187*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GPathogenic
Select item 736967	NM_000330.4(RS1):c.548C>T (p.Thr183Ile)	CDKL5, RS1 (T183I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 98986	NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	CDKL5, RS1 (R182C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic/Likely pathogenic
Select item 3249916	NM_000330.4(RS1):c.538T>C (p.Ser180Pro)	CDKL5, RS1 (S180P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98984	NM_000330.4(RS1):c.535A>G (p.Asn179Asp)	CDKL5, RS1 (N179D)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249931	NM_000330.4(RS1):c.527_528insA (p.Phe176fs)	CDKL5, RS1 (F176fs)	Insertion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98981	NM_000330.4(RS1):c.522+5G>A	CDKL5, RS1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 98980	NM_000330.4(RS1):c.522+1G>T	CDKL5, RS1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic
Select item 3249890	NM_000330.4(RS1):c.518del (p.Asn173fs)	CDKL5, RS1 (N173fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249895	NM_000330.4(RS1):c.491_494dup (p.Tyr166fs)	CDKL5, RS1 (Y166fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249759	NM_000330.4(RS1):c.467_469del (p.Arg156del)	CDKL5, RS1 (R156del)	Deletion (inframe_deletion +1 more)	Retinal dystrophy	GPathogenic
Select item 1439617	NM_000330.4(RS1):c.466A>G (p.Arg156Gly)	CDKL5, RS1 (R156G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 3249900	NM_000330.4(RS1):c.458T>C (p.Val153Ala)	CDKL5, RS1 (V153A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249940	NM_000330.4(RS1):c.449A>C (p.Lys150Thr)	CDKL5, RS1 (K150T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249874	NM_000330.4(RS1):c.428A>C (p.Asp143Ala)	CDKL5, RS1 (D143A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249880	NM_000330.4(RS1):c.424T>C (p.Cys142Arg)	CDKL5, RS1 (C142R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98960	NM_000330.4(RS1):c.422G>A (p.Arg141His)	CDKL5, RS1 (R141H)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic/Likely pathogenic
Select item 98959	NM_000330.4(RS1):c.421C>T (p.Arg141Cys)	CDKL5, RS1 (R141C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic
Select item 98956	NM_000330.4(RS1):c.418G>A (p.Gly140Arg)	CDKL5, RS1 (G140R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 3249818	NM_000330.4(RS1):c.410T>C (p.Leu137Pro)	CDKL5, RS1 (L137P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249881	NM_000330.4(RS1):c.380T>G (p.Leu127Arg)	CDKL5, RS1 (L127R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249794	NM_000330.4(RS1):c.378_380del (p.Asp126_Leu127delinsGlu)	CDKL5, RS1	Deletion (inframe_indel +1 more)	Retinal dystrophy	GPathogenic
Select item 3249801	NM_000330.4(RS1):c.375_377delinsC (p.Asp126fs)	CDKL5, RS1 (D126fs)	Indel (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 2637975	NM_000330.4(RS1):c.377A>G (p.Asp126Gly)	CDKL5, RS1 (D126G)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 3249947	NM_000330.4(RS1):c.370del (p.Gln124fs)	CDKL5, RS1 (Q124fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98943	NM_000330.4(RS1):c.337C>T (p.Leu113Phe)	CDKL5, RS1 (L113F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453240	NM_000330.4(RS1):c.332C>T (p.Ala111Val)	CDKL5, RS1 (A111V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3249937	NM_000330.4(RS1):c.328T>G (p.Cys110Gly)	CDKL5, RS1 (C110G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3249892	NM_000330.4(RS1):c.322_326+6del	CDKL5, RS1	Deletion (intron variant +1 more)	Retinal dystrophy	GPathogenic
Select item 1503381	NM_000330.4(RS1):c.326G>C (p.Gly109Ala)	CDKL5, RS1 (G109A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 98934	NM_000330.4(RS1):c.323T>G (p.Phe108Cys)	CDKL5, RS1 (F108C)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98933	NM_000330.4(RS1):c.318dup (p.Gly107fs)	CDKL5, RS1 (G107fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1019831	NM_000330.4(RS1):c.311A>C (p.Asn104Thr)	CDKL5, RS1 (N104T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 9896	NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	CDKL5, RS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 9887	NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	CDKL5, RS1 (R102W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 98927	NM_000330.4(RS1):c.293C>A (p.Ala98Glu)	CDKL5, RS1 (A98E)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 3249918	NM_000330.4(RS1):c.286T>G (p.Trp96Gly)	CDKL5, RS1 (W96G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 9886	NM_000330.4(RS1):c.286T>C (p.Trp96Arg)	CDKL5, RS1 (W96R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 98925	NM_000330.4(RS1):c.276G>C (p.Trp92Cys)	CDKL5, RS1 (W92C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 3249883	NM_000330.4(RS1):c.275G>C (p.Trp92Ser)	CDKL5, RS1 (W92S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 98921	NM_000330.4(RS1):c.253_255del (p.Asn85del)	CDKL5, RS1 (N85del)	Deletion (inframe_indel +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 98920	NM_000330.4(RS1):c.242T>A (p.Ile81Asn)	CDKL5, RS1 (I81N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 9890	NM_000330.4(RS1):c.221G>T (p.Gly74Val)	CDKL5, RS1 (G74V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 98916	NM_000330.4(RS1):c.214G>C (p.Glu72Gln)	CDKL5, RS1 (E72Q)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic/Likely pathogenic
Select item 9888	NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	CDKL5, RS1 (E72K)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +3 more	GPathogenic/Likely pathogenic
Select item 2007231	NM_000330.4(RS1):c.208G>T (p.Gly70Cys)	CDKL5, RS1 (G70C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 813235	NM_000330.4(RS1):c.199_206dup (p.Gly70fs)	CDKL5, RS1 (G70fs)	Duplication (frameshift variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic
Select item 3249744	NM_000330.4(RS1):c.206T>C (p.Leu69Pro)	CDKL5, RS1 (L69P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3249812	NM_000330.4(RS1):c.183_184+12del	RS1	Deletion (splice donor variant)	Retinal dystrophy	GPathogenic
Select item 866404	NM_000330.4(RS1):c.176G>A (p.Cys59Tyr)	RS1 (C59Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic/Likely pathogenic
Select item 98908	NM_000330.4(RS1):c.175T>A (p.Cys59Ser)	RS1 (C59S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 1164535	NM_000330.4(RS1):c.150G>T (p.Trp50Cys)	RS1 (W50C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3249784	NM_000330.4(RS1):c.124del (p.Cys42fs)	RS1 (C42fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 98905	NM_000330.4(RS1):c.120C>A (p.Cys40Ter)	RS1 (C40*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 2138482	NM_000330.4(RS1):c.97del (p.Trp33fs)	RS1 (W33fs)	Deletion (frameshift variant)	Juvenile retinoschisis +2 more	GPathogenic
Select item 3249711	NC_000023.11:g.(18656759_18657639)_(18672069_?)del	RS1	Deletion	Retinal dystrophy	GPathogenic
Select item 3249914	NC_000023.11:g.(18657666_18672016)_(18672069_?)del	RS1	Deletion	Retinal dystrophy	GPathogenic
Select item 98944	NM_000330.4(RS1):c.33_36del (p.Leu11fs)	RS1 (L11fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 959905	NM_000330.4(RS1):c.3G>A (p.Met1Ile)	RS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 3250265	NC_000023.11:g.(18657652_18672110)_(18672110_?)del	RS1	Deletion	Retinal dystrophy	GPathogenic
Select item 3250229	NC_000023.11:g.(?_18641623)_(18641623_18644.669)del	RS1	Deletion	Retinal dystrophy	GPathogenic
Select item 3250194	NM_000330.4:c.(78+1_79-1)_(184+1_185-1)del	RS1	Deletion	Retinal dystrophy	GPathogenic
Select item 3249949	NM_000330.4:c.(184+1_185-1)_(522+1_523-1)del	RS1	Deletion	Retinal dystrophy	GPathogenic
Select item 3249747	NM_000330.4:c.(52+1_53-1)_(184+1_185-1)del	RS1	Deletion	Retinal dystrophy	GPathogenic

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Items: 91