"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +5 more	GBenign
Select item 95398	NM_006493.4(CLN5):c.-76A>G	CLN5	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GBenign/Likely benign
Select item 95396	NM_006493.4(CLN5):c.87C>G (p.Ala29=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +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 1334850	NM_006493.4(CLN5):c.298C>A (p.Pro100Thr)	CLN5 (P100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1334851	NM_006493.4(CLN5):c.409G>A (p.Glu137Lys)	CLN5 (E137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56541	NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)	CLN5 (P156S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 434793	NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)	CLN5 (D172fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GPathogenic/Likely pathogenic
Select item 128784	NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	CLN5	Deletion (nonsense)	Neuronal ceroid lipofuscinosis 5 +3 more	GPathogenic/Likely pathogenic
Select item 128778	NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)	CLN5 (K319R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +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
Select item 128780	NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)	CLN5 (P349S)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GUncertain significance