"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CLN3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 318715	NM_001042432.2(CLN3):c.*29A>G	CLN3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 418137	NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	CLN3 (R405W +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 128776	NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)	CLN3 (H404R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +5 more	GBenign/Likely benign
Select item 128775	NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	CLN3 (H404N +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +5 more	GConflicting classifications of pathogenicity
Select item 559021	NM_001042432.2(CLN3):c.1057-22dup	CLN3	Duplication (intron variant)	not provided	GBenign
Select item 3556	NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	CLN3 (E295K +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GPathogenic
Select item 56284	NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)	CLN3 (G192E +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 418607	NM_001042432.2(CLN3):c.461-3C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205106	NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)	CLN3 (R89Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 205105	NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	CLN3 (P81L +2 more)	Single nucleotide variant (missense variant +2 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GConflicting classifications of pathogenicity
Select item 205104	NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)	CLN3 (S69L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 387506	NM_001042432.2(CLN3):c.125+3G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 1120167	Single allele	CLN3	Deletion	not provided	GPathogenic