C1850442[trait identifier] AND "Juha Muilu Group; Institute for Molecu - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56532	NM_006493.4(CLN5):c.144dup (p.Ser49fs)	CLN5, LOC130009913 (S49fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 56533	NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)	CLN5 (R63P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
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 56535	NM_006493.4(CLN5):c.339+5G>C	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 56536	NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)	CLN5 (L126*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 56537	NM_006493.4(CLN5):c.380_381insA (p.Gly128fs)	CLN5 (G128fs)	Insertion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 56538	NM_006493.4(CLN5):c.418C>T (p.Gln140Ter)	CLN5 (Q140*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 56539	NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	CLN5 (N143S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 56540	NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)	CLN5 (L149P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 56541	NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)	CLN5 (P156S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 56542	NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)	CLN5 (W158S)	Single nucleotide variant (missense 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 56544	NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	CLN5 (W175*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely 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 +1 more	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	GPathogenic
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 56525	NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter)	CLN5 (Y293*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely 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 +2 more	GPathogenic
Select item 56527	NM_006493.4(CLN5):c.925_926del (p.Leu309fs)	CLN5 (L309fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 56528	NM_006493.4(CLN5):c.936del (p.Phe312fs)	CLN5 (F312fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 56529	NM_006493.4(CLN5):c.956_959del (p.Lys319fs)	CLN5 (K319fs)	Deletion (3 prime UTR variant +1 more)	not provided +2 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)	not provided +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: 23