ClinVar for MedGen (Select 811458) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678457	NM_000330.4(RS1):c.184+2T>C	RS1	Single nucleotide variant (splice donor variant)	Juvenile retinoschisis	GLikely pathogenic
Select item 2637975	NM_000330.4(RS1):c.377A>G (p.Asp126Gly)	CDKL5, RS1 (D126G)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GPathogenic
Select item 1805017	NM_000330.4(RS1):c.103C>T (p.Gln35Ter)	RS1 (Q35*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1726095	NM_000330.4(RS1):c.60_64del (p.Leu20fs)	RS1 (L20fs)	Deletion (frameshift variant)	Juvenile retinoschisis	GLikely pathogenic
Select item 1705523	NM_000330.4(RS1):c.455del (p.Ser152fs)	CDKL5, RS1 (S152fs)	Deletion (frameshift variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1705489	NM_000330.4(RS1):c.184+1G>A	RS1	Single nucleotide variant (splice donor variant)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 1705356	NM_000330.4(RS1):c.101dup (p.Tyr34Ter)	RS1 (Y34*)	Duplication (nonsense)	Juvenile retinoschisis	GLikely pathogenic
Select item 1697265	NM_000330.4(RS1):c.578C>A (p.Pro193His)	CDKL5, RS1 (P193H)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1694473	NM_000330.4(RS1):c.41T>C (p.Phe14Ser)	RS1 (F14S)	Single nucleotide variant (missense variant)	Juvenile retinoschisis	GUncertain significance
Select item 1687609	NM_000330.4(RS1):c.531T>G (p.Tyr177Ter)	CDKL5, RS1 (Y177*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687568	NM_000330.4(RS1):c.131dup (p.Gly45fs)	RS1 (G45fs)	Duplication (frameshift variant)	Juvenile retinoschisis	GLikely pathogenic
Select item 1687470	NM_000330.4(RS1):c.488G>A (p.Trp163Ter)	CDKL5, RS1 (W163*)	Single nucleotide variant (nonsense +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1687404	NM_000330.4(RS1):c.327-14_410del	CDKL5, RS1	Deletion (intron variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1517929	NM_000330.4(RS1):c.187T>C (p.Cys63Arg)	CDKL5, RS1 (C63R)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GConflicting classifications of pathogenicity
Select item 1511070	NM_000330.4(RS1):c.460C>G (p.Gln154Glu)	CDKL5, RS1 (Q154E)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GConflicting classifications of pathogenicity
Select item 1459515	NM_000330.4(RS1):c.461A>G (p.Gln154Arg)	CDKL5, RS1 (Q154R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1343823	NM_000330.4(RS1):c.327-6C>A	CDKL5, RS1	Single nucleotide variant (intron variant)	Juvenile retinoschisis	GUncertain significance
Select item 1338796	NM_000330.4(RS1):c.439T>C (p.Trp147Arg)	CDKL5, RS1 (W147R)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GUncertain significance
Select item 1301833	NM_000330.4(RS1):c.52+3A>G	RS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1234213	NM_000330.4(RS1):c.184+35T>C	RS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184473	NM_000330.4(RS1):c.287G>A (p.Trp96Ter)	CDKL5, RS1 (W96*)	Single nucleotide variant (nonsense +1 more)	Juvenile retinoschisis	GPathogenic
Select item 1126370	NM_000330.4(RS1):c.213C>T (p.Phe71=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1048173	NM_000330.4(RS1):c.150G>A (p.Trp50Ter)	RS1 (W50*)	Single nucleotide variant (nonsense)	Juvenile retinoschisis	GLikely pathogenic
Select item 1048161	NM_000330.4(RS1):c.53-713_78+266del	RS1	Deletion (splice acceptor variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1023915	NM_000330.4(RS1):c.409C>T (p.Leu137Phe)	CDKL5, RS1 (L137F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1011347	NM_000330.4(RS1):c.320G>A (p.Gly107Asp)	CDKL5, RS1 (G107D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992968	NM_000330.4(RS1):c.215A>G (p.Glu72Gly)	CDKL5, RS1 (E72G)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 978505	NM_000330.4(RS1):c.523-10A>C	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 971861	NM_000330.4(RS1):c.257C>T (p.Pro86Leu)	CDKL5, RS1 (P86L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 965598	NM_000330.4(RS1):c.521G>A (p.Arg174Gln)	CDKL5, RS1 (R174Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 938640	NM_000330.4(RS1):c.572G>A (p.Arg191Gln)	CDKL5, RS1 (R191Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 931958	NM_000330.4(RS1):c.649del (p.Leu217fs)	CDKL5, RS1 (L217fs)	Deletion (frameshift variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 930876	NM_000330.4(RS1):c.320G>T (p.Gly107Val)	CDKL5, RS1 (G107V)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GUncertain significance
Select item 866919	NM_000330.4(RS1):c.53-1G>A	RS1	Single nucleotide variant (splice acceptor variant)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 840240	NM_000330.4(RS1):c.523-10_523-7del	CDKL5, RS1	Deletion (intron variant)	not provided	GLikely benign
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 797944	NM_000330.4(RS1):c.471C>T (p.Thr157=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 793986	NM_000330.4(RS1):c.326+8G>C	CDKL5, RS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791378	NM_000330.4(RS1):c.258G>A (p.Pro86=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 757382	NM_000330.4(RS1):c.7C>G (p.Arg3Gly)	RS1 (R3G)	Single nucleotide variant (missense variant)	RS1-related condition +1 more	GBenign
Select item 755144	NM_000330.4(RS1):c.184+9C>T	RS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741219	NM_000330.4(RS1):c.76G>A (p.Glu26Lys)	RS1 (E26K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 738705	NM_000330.4(RS1):c.285G>A (p.Ser95=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 730036	NM_000330.4(RS1):c.264G>C (p.Gln88His)	CDKL5, RS1 (Q88H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 722780	NM_000330.4(RS1):c.88G>A (p.Glu30Lys)	RS1 (E30K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710170	NM_000330.4(RS1):c.295A>G (p.Asn99Asp)	CDKL5, RS1 (N99D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 547067	NM_000330.4(RS1):c.366G>A (p.Trp122Ter)	CDKL5, RS1 (W122*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372496	NM_000330.4(RS1):c.208G>A (p.Gly70Ser)	CDKL5, RS1 (G70S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 371642	NM_000330.4(RS1):c.673T>C (p.Ter225Arg)	CDKL5, RS1	Single nucleotide variant (stop lost +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 370754	NM_000330.4(RS1):c.498C>A (p.Tyr166Ter)	CDKL5, RS1 (Y166*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 285377	NM_000330.4(RS1):c.234G>A (p.Pro78=)	CDKL5, RS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99009	NM_000330.4(RS1):c.637C>T (p.Arg213Trp)	CDKL5, RS1 (R213W)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99000	NM_000330.4(RS1):c.598C>T (p.Arg200Cys)	CDKL5, RS1 (R200C)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 98997	NM_000330.4(RS1):c.590G>A (p.Arg197His)	CDKL5, RS1 (R197H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 98996	NM_000330.4(RS1):c.589C>T (p.Arg197Cys)	CDKL5, RS1 (R197C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 98995	NM_000330.4(RS1):c.579dup (p.Ile194fs)	CDKL5, RS1 (I194fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 98990	NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	CDKL5, RS1 (P192S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 98986	NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	CDKL5, RS1 (R182C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 98979	NM_000330.4(RS1):c.522+1G>A	CDKL5, RS1	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 98960	NM_000330.4(RS1):c.422G>A (p.Arg141His)	CDKL5, RS1 (R141H)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	not provided +1 more	GPathogenic
Select item 98957	NM_000330.4(RS1):c.419G>A (p.Gly140Glu)	CDKL5, RS1 (G140E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 98923	NM_000330.4(RS1):c.266A>G (p.Tyr89Cys)	CDKL5, RS1 (Y89C)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GPathogenic/Likely pathogenic
Select item 98916	NM_000330.4(RS1):c.214G>C (p.Glu72Gln)	CDKL5, RS1 (E72Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 98915	NM_000330.4(RS1):c.209G>A (p.Gly70Asp)	CDKL5, RS1 (G70D)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 98910	NM_000330.4(RS1):c.185-1G>C	CDKL5, RS1	Single nucleotide variant (intron variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic
Select item 98906	NM_000330.4(RS1):c.160_163dup (p.Thr55fs)	RS1 (T55fs)	Duplication (frameshift variant)	Juvenile retinoschisis	GPathogenic
Select item 68076	NM_000330.4(RS1):c.579del (p.Ile194fs)	CDKL5, RS1 (I194fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 68072	NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	CDKL5, RS1 (Q117*)	Single nucleotide variant (nonsense +1 more)	Juvenile retinoschisis	GPathogenic
Select item 9896	NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	CDKL5, RS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	RS1-related condition +3 more	GPathogenic
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 9893	NM_000330.4(RS1):c.667T>C (p.Cys223Arg)	CDKL5, RS1 (C223R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 9892	NM_000330.4(RS1):c.38T>C (p.Leu13Pro)	RS1 (L13P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9891	NM_000330.4(RS1):c.325G>C (p.Gly109Arg)	CDKL5, RS1 (G109R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 9890	NM_000330.4(RS1):c.221G>T (p.Gly74Val)	CDKL5, RS1 (G74V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 9889	NM_000330.4(RS1):c.216G>C (p.Glu72Asp)	CDKL5, RS1 (E72D)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis	GPathogenic
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 9887	NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	CDKL5, RS1 (R102W)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +1 more	GPathogenic/Likely pathogenic
Select item 9886	NM_000330.4(RS1):c.286T>C (p.Trp96Arg)	CDKL5, RS1 (W96R)	Single nucleotide variant (missense variant +1 more)	Juvenile retinoschisis +2 more	GPathogenic

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Items: 81