"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC130009913"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95396	NM_006493.4(CLN5):c.87C>G (p.Ala29=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GBenign/Likely benign
Select item 1163067	NM_006493.4(CLN5):c.118G>C (p.Gly40Arg)	CLN5, LOC130009913 (G40R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380156	NM_006493.4(CLN5):c.161C>T (p.Pro54Leu)	CLN5, LOC130009913 (P103L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128781	NM_006493.4(CLN5):c.173+8C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign
Select item 95397	NM_006493.4(CLN5):c.173+18C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign
Select item 558874	NM_006493.4(CLN5):c.173+30G>A	CLN5, LOC130009913	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar