C5551375[trait identifier] AND "Human Genome Lab, NIMHANS, National In - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1059430	NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)	CLN6 (S104F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 2627623	NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)	CLN6 (T125K +1 more)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic