"Baylor Genetics"[submitter] AND "LOC130009913"[gene] - ClinVar - NCBI

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Items: 8

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