"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLN5"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166884	NM_006493.4(CLN5):c.-146T>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +4 more	GConflicting classifications of pathogenicity
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GBenign
Select item 193342	NM_006493.4(CLN5):c.-87C>T	CLN5	Single nucleotide variant	not specified +5 more	GBenign/Likely benign
Select item 95398	NM_006493.4(CLN5):c.-76A>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +5 more	GBenign/Likely benign
Select item 422252	NM_006493.4(CLN5):c.13G>A (p.Val5Ile)	CLN5 (V5I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 205127	NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	CLN5, LOC130009913 (W26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 95396	NM_006493.4(CLN5):c.87C>G (p.Ala29=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 128781	NM_006493.4(CLN5):c.173+8C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GBenign
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)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic
Select item 580614	NM_006493.4(CLN5):c.486C>T (p.Gly162=)	CLN5	Single nucleotide variant (synonymous variant)	CLN5-related disorder +1 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)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GBenign/Likely benign
Select item 128779	NM_006493.4(CLN5):c.1041T>C (p.Pro347=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GBenign/Likely benign