C1850442[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554902	NC_000013.11:g.76991952A>C	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 553182	NM_006493.2(CLN5):c.1A>G (p.Met1Val)	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 205134	NC_000013.11:g.76991953T>A	CLN5	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193342	NM_006493.4(CLN5):c.-87C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +4 more	GBenign/Likely benign
Select item 552009	NM_006493.4(CLN5):c.-7C>A	CLN5	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 550105	NM_006493.4(CLN5):c.18del (p.Asp6fs)	CLN5 (D6fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 556290	NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup)	CLN5, LOC130009913	Duplication (inframe_insertion)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 205126	NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])	CLN5, LOC130009913	Microsatellite (inframe_insertion)	Neuronal ceroid lipofuscinosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 370851	NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs)	CLN5, LOC130009913 (S25fs)	Indel (frameshift variant)	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 2565	NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)	CLN5, LOC130009913 (W26*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	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 556473	NM_006493.4(CLN5):c.119del (p.Gly40fs)	CLN5, LOC130009913 (G40fs)	Deletion (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 371261	NM_006493.4(CLN5):c.155_167del (p.His52fs)	CLN5, LOC130009913 (H52fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 190222	NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	CLN5 (R63C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 558491	NM_006493.4(CLN5):c.191del (p.Pro64fs)	CLN5 (P64fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely 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 370310	NM_006493.4(CLN5):c.340-1del	CLN5	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 56536	NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)	CLN5 (L126*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 558089	NM_006493.4(CLN5):c.438del (p.His148fs)	CLN5 (H148fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 205144	NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	CLN5 (R150*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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)	not provided +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 553559	NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)	CLN5	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 555423	NM_006493.4(CLN5):c.565+2dup	CLN5	Duplication (splice donor variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 554629	NM_006493.4(CLN5):c.565+1G>A	CLN5	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 558707	NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)	CLN5 (W225fs)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 558374	NM_006493.4(CLN5):c.705_706del (p.Leu236fs)	CLN5 (L236fs)	Microsatellite (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 552578	NM_006493.4(CLN5):c.713_720del (p.Thr238fs)	CLN5 (T238fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +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 555601	NM_006493.4(CLN5):c.838_841del (p.Gly280fs)	CLN5 (G280fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 556757	NM_006493.4(CLN5):c.906del (p.Glu303fs)	CLN5 (E303fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely 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 558456	NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)	CLN5	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 370765	NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)	CLN5 (Q320*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely 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 553044	NM_006493.4(CLN5):c.995del (p.Leu332fs)	CLN5 (L332fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 552565	NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs)	CLN5 (P347fs)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 557487	NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs)	CLN5 (R351fs)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GUncertain significance

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Items: 42