"Baylor Genetics"[submitter] AND "CLN5"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813489	NM_006493.4(CLN5):c.-97del	CLN5	Deletion	Neuronal ceroid lipofuscinosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 2680834	NM_006493.4(CLN5):c.34G>T (p.Glu12Ter)	CLN5, LOC130009913 (E12* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 553399	NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)	CLN5, LOC130009913 (W26*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GPathogenic
Select item 451600	NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	CLN5, LOC130009913 (W28*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 205142	NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)	CLN5, LOC130009913 (A36P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2680835	NM_006493.4(CLN5):c.114_124dup (p.Ser42fs)	CLN5, LOC130009913 (S42fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 370084	NM_006493.4(CLN5):c.133_134del (p.Ser45fs)	CLN5, LOC130009913 (S45fs)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 285012	NM_006493.4(CLN5):c.152G>A (p.Arg51His)	CLN5, LOC130009913 (R51H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2680838	NM_006493.4(CLN5):c.173+1G>A	CLN5, LOC130009913	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 929174	NM_006493.4(CLN5):c.174-2A>G	CLN5	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2567	NM_006493.4(CLN5):c.188G>A (p.Arg63His)	CLN5 (R63H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1075843	NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)	CLN5	Deletion (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 56534	NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)	CLN5 (R96*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2680839	NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)	CLN5 (W102* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2043193	NM_006493.4(CLN5):c.340-52_365delinsTAACGGG	CLN5	Indel (splice acceptor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 2680830	NM_006493.4(CLN5):c.342_346dup (p.Met116fs)	CLN5 (M116fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680833	NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)	CLN5 (E134* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 1425365	NM_006493.4(CLN5):c.404G>A (p.Trp135Ter)	CLN5 (W135*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 196438	NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)	CLN5 (F139L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 56539	NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	CLN5 (N143S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 2680836	NM_006493.4(CLN5):c.431_432del (p.Cys144fs)	CLN5 (C144fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2866615	NM_006493.4(CLN5):c.441_442dup (p.His148fs)	CLN5 (H148fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 205144	NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	CLN5 (R150*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic
Select item 2680831	NM_006493.4(CLN5):c.474del (p.Trp158fs)	CLN5 (W158fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 56543	NM_006493.4(CLN5):c.522dup (p.Trp175fs)	CLN5 (W175fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 128784	NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	CLN5	Deletion (nonsense)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 56544	NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	CLN5 (W175*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 3241178	NM_006493.4(CLN5):c.609del (p.Asn203fs)	CLN5 (N203fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 56545	NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)	CLN5 (Y209D)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GLikely pathogenic
Select item 2680829	NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)	CLN5 (Y209* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3241179	NM_006493.4(CLN5):c.655G>T (p.Glu219Ter)	CLN5 (E219* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680828	NM_006493.4(CLN5):c.717dup (p.Asn240Ter)	CLN5 (N240*)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 56546	NM_006493.4(CLN5):c.772del (p.Arg258fs)	CLN5 (R258fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 189038	NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	CLN5 (F260fs)	Microsatellite (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 371570	NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)	CLN5 (E265*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 56547	NM_006493.4(CLN5):c.808_823del (p.Gly270fs)	CLN5 (G270fs)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 968752	NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)	CLN5 (G280*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 2568	NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)	CLN5 (E303*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 56526	NM_006493.4(CLN5):c.924_925del (p.Leu309fs)	CLN5 (L309fs)	Microsatellite (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic
Select item 56528	NM_006493.4(CLN5):c.936del (p.Phe312fs)	CLN5 (F312fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic
Select item 56529	NM_006493.4(CLN5):c.956_959del (p.Lys319fs)	CLN5 (K319fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +2 more	GPathogenic
Select item 858697	NM_006493.4(CLN5):c.965_968del (p.Tyr322fs)	CLN5 (Y322fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 2680837	NM_006493.4(CLN5):c.969_972del (p.Leu323fs)	CLN5 (L323fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3241177	NM_006493.4(CLN5):c.968T>A (p.Leu323Ter)	CLN5 (L323* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2570	NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	CLN5 (Y325C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1454025	NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)	CLN5 (Y329*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 1072711	NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)	CLN5 (W330*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 56530	NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)	CLN5 (W330C)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 2564	NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)	CLN5	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic

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Items: 49