"Counsyl"[submitter] AND "LOC130009913"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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