Related gene-specific medical variations for Gene (Select 54982) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243742	NC_000015.9:g.(?_68503591)_(68506736_?)del	CLN6	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243741	NC_000015.9:g.(?_68510854)_(68511008_?)del	CLN6	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3065628	NM_017882.3(CLN6):c.843G>A (p.Trp281Ter)	CLN6 (W281* +1 more)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 3065115	NM_017882.3(CLN6):c.934T>C (p.Ter312Arg)	CLN6	Single nucleotide variant (stop lost)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 2688794	NM_017882.3(CLN6):c.310T>C (p.Ser104Pro)	CLN6 (S104P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440146	NM_017882.3(CLN6):c.142T>A (p.Trp48Arg)	CLN6 (W48R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440145	NM_017882.3(CLN6):c.700T>C (p.Phe234Leu)	CLN6 (F234L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429422	NM_017882.3(CLN6):c.298-346G>T	CLN6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1322096	NM_017882.3(CLN6):c.144G>A (p.Trp48Ter)	CLN6 (W48*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 376954	NM_017882.3(CLN6):c.682G>A (p.Gly228Ser)	CLN6 (G228S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242581	NC_000015.9:g.68500577_68500585delCCAGGCGAC	CLN6	Deletion (inframe_deletion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 68097	NM_017882.3(CLN6):c.712T>A (p.Phe238Ile)	CLN6 (F238I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68095	NM_017882.3(CLN6):c.231C>G (p.Asn77Lys)	CLN6 (N77K)	Single nucleotide variant (missense variant)	not provided	Gnot provided