"Ambry Genetics"[submitter] AND "CLN8"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195348	NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	CLN8 (A4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 205200	NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)	CLN8 (D6G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 967435	NM_018941.4(CLN8):c.39T>G (p.Ile13Met)	CLN8 (I13M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205201	NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)	CLN8 (D17G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 205203	NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)	CLN8 (S20C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1764012	NM_018941.4(CLN8):c.85G>T (p.Val29Phe)	CLN8 (V29F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 521986	NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)	CLN8 (G31D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 195346	NM_018941.4(CLN8):c.94T>G (p.Phe32Val)	CLN8 (F32V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 588215	NM_018941.4(CLN8):c.111C>T (p.Gly37=)	CLN8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 420346	NM_018941.4(CLN8):c.112G>A (p.Val38Ile)	CLN8 (V38I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 568611	NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)	CLN8 (S47F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1773945	NM_018941.4(CLN8):c.149A>G (p.Asn50Ser)	CLN8 (N50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585708	NM_018941.4(CLN8):c.161G>A (p.Arg54His)	CLN8 (R54H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 195345	NM_018941.4(CLN8):c.200C>T (p.Ala67Val)	CLN8 (A67V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 853006	NM_018941.4(CLN8):c.206C>T (p.Thr69Met)	CLN8 (T69M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 261062	NM_018941.4(CLN8):c.207G>A (p.Thr69=)	CLN8	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 56704	NM_018941.4(CLN8):c.209G>A (p.Arg70His)	CLN8 (R70H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1007358	NM_018941.4(CLN8):c.238G>A (p.Ala80Thr)	CLN8 (A80T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 136806	NM_018941.4(CLN8):c.246G>A (p.Leu82=)	CLN8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 128788	NM_018941.4(CLN8):c.274C>T (p.His92Tyr)	CLN8 (H92Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 969154	NM_018941.4(CLN8):c.280G>A (p.Asp94Asn)	CLN8 (D94N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 136807	NM_018941.4(CLN8):c.290G>A (p.Arg97His)	CLN8 (R97H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 377699	NM_018941.4(CLN8):c.318C>T (p.His106=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign/Likely benign
Select item 944418	NM_018941.4(CLN8):c.323C>T (p.Thr108Met)	CLN8 (T108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 698268	NM_018941.4(CLN8):c.333G>A (p.Thr111=)	CLN8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2539035	NM_018941.4(CLN8):c.353A>G (p.Asn118Ser)	CLN8 (N118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 205207	NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)	CLN8 (N125S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +5 more	GConflicting classifications of pathogenicity
Select item 195344	NM_018941.4(CLN8):c.385C>T (p.Arg129Trp)	CLN8 (R129W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205208	NM_018941.4(CLN8):c.406G>T (p.Val136Phe)	CLN8 (V136F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1051820	NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)	CLN8 (N152S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 56710	NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	CLN8 (Y158C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 205194	NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	CLN8 (E167*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 499264	NM_018941.4(CLN8):c.510G>A (p.Thr170=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 386111	NM_018941.4(CLN8):c.513C>G (p.Pro171=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 205190	NM_018941.4(CLN8):c.522C>T (p.Cys174=)	CLN8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2285052	NM_018941.4(CLN8):c.544-6A>T	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 450759	NM_018941.4(CLN8):c.545C>T (p.Ala182Val)	CLN8 (A182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 205186	NM_018941.4(CLN8):c.546G>A (p.Ala182=)	CLN8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 451285	NM_018941.4(CLN8):c.619C>G (p.Leu207Val)	CLN8 (L207V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 282074	NM_018941.4(CLN8):c.648C>T (p.Phe216=)	CLN8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 457978	NM_018941.4(CLN8):c.666G>A (p.Leu222=)	CLN8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 95924	NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)	CLN8	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign
Select item 527744	NM_018941.4(CLN8):c.697C>G (p.Leu233Val)	CLN8 (L233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 590039	NM_018941.4(CLN8):c.700T>A (p.Phe234Ile)	CLN8 (F234I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 457979	NM_018941.4(CLN8):c.703del (p.Val236fs)	CLN8 (V236fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 949717	NM_018941.4(CLN8):c.716C>T (p.Ala239Val)	CLN8 (A239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205210	NM_018941.4(CLN8):c.776A>G (p.Asn259Ser)	CLN8 (N259S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 136803	NM_018941.4(CLN8):c.777T>C (p.Asn259=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +5 more	GBenign/Likely benign
Select item 205196	NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)	CLN8 (P260L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 589953	NM_018941.4(CLN8):c.780G>A (p.Pro260=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 424331	NM_018941.4(CLN8):c.796G>A (p.Ala266Thr)	CLN8 (A266T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2560281	NM_018941.4(CLN8):c.801G>T (p.Gln267His)	CLN8 (Q267H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 196493	NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	CLN8 (E269V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 377701	NM_018941.4(CLN8):c.843G>A (p.Leu281=)	CLN8	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign

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Items: 54