"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	Inborn genetic diseases +5 more	GBenign
Select item 205123	NM_006493.4(CLN5):c.-99G>C	CLN5	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GConflicting classifications of pathogenicity
Select item 95398	NM_006493.4(CLN5):c.-76A>G	CLN5	Single nucleotide variant	not specified +5 more	GBenign/Likely benign
Select item 205125	NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	CLN5 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 205127	NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	LOC130009913, CLN5 (W26R)	Single nucleotide variant (missense variant)	CLN5-related condition +5 more	GConflicting classifications of pathogenicity
Select item 95396	NM_006493.4(CLN5):c.87C>G (p.Ala29=)	LOC130009913, CLN5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 95397	NM_006493.4(CLN5):c.173+18C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 128783	NM_006493.4(CLN5):c.381T>G (p.Thr127=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 205144	NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	CLN5 (R150*)	Single nucleotide variant (nonsense)	CLN5-related condition +3 more	GPathogenic
Select item 205145	NM_006493.4(CLN5):c.459G>A (p.Met153Ile)	CLN5 (M153I)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GUncertain significance
Select item 136794	NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)	CLN5 (N193K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 128778	NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)	CLN5 (K319R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign