"GeneDx"[submitter] AND "CLN6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 886012	NM_017882.3(CLN6):c.*393G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1193056	NM_017882.3(CLN6):c.*141GT[14]	CLN6	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 316986	NM_017882.3(CLN6):c.*141GT[13]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 316985	NM_017882.3(CLN6):c.*141GT[12]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 316984	NM_017882.3(CLN6):c.*141GT[11]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 1200549	NM_017882.3(CLN6):c.*141GT[9]	CLN6	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 316987	NM_017882.3(CLN6):c.*141GT[8]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 887015	NM_017882.3(CLN6):c.*42T>G	CLN6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1181938	NM_017882.3(CLN6):c.*38A>G	CLN6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1215116	NM_017882.3(CLN6):c.*30T>G	CLN6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 198573	NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	CLN6 (S308T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +7 more	GConflicting classifications of pathogenicity
Select item 511333	NM_017882.3(CLN6):c.918C>T (p.His306=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 423701	NM_017882.3(CLN6):c.902C>G (p.Ala301Gly)	CLN6 (A301G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512167	NM_017882.3(CLN6):c.876T>C (p.Gly292=)	CLN6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1303625	NM_017882.3(CLN6):c.875G>A (p.Gly292Asp)	CLN6 (G292D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384955	NM_017882.3(CLN6):c.873G>A (p.Pro291=)	CLN6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 514534	NM_017882.3(CLN6):c.870C>T (p.Tyr290=)	CLN6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1707855	NM_017882.3(CLN6):c.866A>G (p.Lys289Arg)	CLN6 (K289R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 663907	NM_017882.3(CLN6):c.850C>T (p.Pro284Ser)	CLN6 (P284S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2580702	NM_017882.3(CLN6):c.843G>C (p.Trp281Cys)	CLN6 (W281C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 415533	NM_017882.3(CLN6):c.840G>A (p.Leu280=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 700209	NM_017882.3(CLN6):c.831C>T (p.Val277=)	CLN6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 136801	NM_017882.3(CLN6):c.822G>A (p.Ala274=)	CLN6	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 420394	NM_017882.3(CLN6):c.821C>T (p.Ala274Val)	CLN6 (A274V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 377696	NM_017882.3(CLN6):c.810C>G (p.Leu270=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 205178	NM_017882.3(CLN6):c.809T>C (p.Leu270Pro)	CLN6 (L270P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205157	NM_017882.3(CLN6):c.799G>A (p.Ala267Thr)	CLN6 (A267T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 423031	NM_017882.3(CLN6):c.797T>C (p.Phe266Ser)	CLN6 (F266S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205182	NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	CLN6 (S265del)	Microsatellite (inframe_deletion)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 961382	NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)	CLN6 (G259S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 512240	NM_017882.3(CLN6):c.774C>T (p.Asn258=)	CLN6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 136800	NM_017882.3(CLN6):c.769A>G (p.Ser257Gly)	CLN6 (S257G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GBenign/Likely benign
Select item 1072427	NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)	CLN6 (D256E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 205177	NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)	CLN6 (D256G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 721748	NM_017882.3(CLN6):c.763C>T (p.Leu255=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 205176	NM_017882.3(CLN6):c.755G>A (p.Arg252His)	CLN6 (R252H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205175	NM_017882.3(CLN6):c.749G>A (p.Arg250His)	CLN6 (R250H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 420301	NM_017882.3(CLN6):c.748C>G (p.Arg250Gly)	CLN6 (R250G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381121	NM_017882.3(CLN6):c.741C>T (p.His247=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 205174	NM_017882.3(CLN6):c.728C>T (p.Ala243Val)	CLN6 (A243V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 431958	NM_017882.3(CLN6):c.722T>C (p.Met241Thr)	CLN6 (M241T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 420280	NM_017882.3(CLN6):c.718G>A (p.Ala240Thr)	CLN6 (A240T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205173	NM_017882.3(CLN6):c.706T>G (p.Phe236Val)	CLN6 (F236V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 668516	NM_017882.3(CLN6):c.684C>A (p.Gly228=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
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 682179	NM_017882.3(CLN6):c.678C>T (p.Thr226=)	CLN6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 510644	NM_017882.3(CLN6):c.666-20C>T	CLN6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1254621	NM_017882.3(CLN6):c.666-45C>T	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668098	NM_017882.3(CLN6):c.665+265G>A	CLN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 205171	NM_017882.3(CLN6):c.665+1G>A	CLN6	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 421376	NM_017882.3(CLN6):c.640G>T (p.Val214Leu)	CLN6 (V214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341047	NM_017882.3(CLN6):c.635T>C (p.Leu212Pro)	CLN6 (L212P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420559	NM_017882.3(CLN6):c.625C>T (p.Pro209Ser)	CLN6 (P209S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1310767	NM_017882.3(CLN6):c.622G>C (p.Gly208Arg)	CLN6 (G208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136799	NM_017882.3(CLN6):c.585C>T (p.Gly195=)	CLN6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 664484	NM_017882.3(CLN6):c.583G>A (p.Gly195Ser)	CLN6 (G195S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1082458	NM_017882.3(CLN6):c.582C>T (p.Ser194=)	CLN6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 422300	NM_017882.3(CLN6):c.581G>T (p.Ser194Ile)	CLN6 (S194I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 422698	NM_017882.3(CLN6):c.563T>C (p.Ile188Thr)	CLN6 (I188T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1218078	NM_017882.3(CLN6):c.543-303G>A	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677325	NM_017882.3(CLN6):c.542+212C>T	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187336	NM_017882.3(CLN6):c.542+165C>T	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223867	NM_017882.3(CLN6):c.542+33G>A	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 518120	NM_017882.3(CLN6):c.542+8A>G	CLN6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 696670	NM_017882.3(CLN6):c.487-8T>C	CLN6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 316993	NM_017882.3(CLN6):c.487-12T>A	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 380421	NM_017882.3(CLN6):c.487-13G>A	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 136798	NM_017882.3(CLN6):c.487-15C>T	CLN6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 506710	NM_017882.3(CLN6):c.487-20C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 673507	NM_017882.3(CLN6):c.487-39C>T	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209065	NM_017882.3(CLN6):c.487-140G>A	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673218	NM_017882.3(CLN6):c.486+51C>T	CLN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516352	NM_017882.3(CLN6):c.486+8C>A	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 128786	NM_017882.3(CLN6):c.486+8C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 205170	NM_017882.3(CLN6):c.486+2T>C	CLN6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 452272	NM_017882.3(CLN6):c.482C>T (p.Thr161Met)	CLN6 (T161M)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +5 more	GUncertain significance
Select item 377695	NM_017882.3(CLN6):c.477G>A (p.Pro159=)	CLN6	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 68096	NM_017882.3(CLN6):c.446G>A (p.Arg149His)	CLN6 (R149H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
Select item 4082	NM_017882.3(CLN6):c.395_396del (p.Ser132fs)	CLN6 (S132fs)	Microsatellite (frameshift variant)	See cases +4 more	GPathogenic
Select item 4079	NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)	CLN6 (G123D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 205168	NM_017882.3(CLN6):c.363C>G (p.Ile121Met)	CLN6 (I121M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205167	NM_017882.3(CLN6):c.357C>G (p.Ile119Met)	CLN6 (I119M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512501	NM_017882.3(CLN6):c.354C>T (p.Ile118=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1216210	NM_017882.3(CLN6):c.343G>A (p.Val115Met)	CLN6 (V115M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 839438	NM_017882.3(CLN6):c.340T>C (p.Tyr114His)	CLN6 (Y114H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 136797	NM_017882.3(CLN6):c.339G>A (p.Thr113=)	CLN6	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1311554	NM_017882.3(CLN6):c.329G>T (p.Arg110Leu)	CLN6 (R110L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449157	NM_017882.3(CLN6):c.325C>T (p.Pro109Ser)	CLN6 (P109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205166	NM_017882.3(CLN6):c.322C>G (p.Leu108Val)	CLN6 (L108V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 197315	NM_017882.3(CLN6):c.316C>T (p.Arg106Cys)	CLN6 (R106C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 205165	NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)	CLN6 (E102K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 429681	NM_017882.3(CLN6):c.301A>G (p.Ile101Val)	CLN6 (I101V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 128785	NM_017882.3(CLN6):c.298-6C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 316995	NM_017882.3(CLN6):c.298-15C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 677645	NM_017882.3(CLN6):c.298-168C>T	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679916	NM_017882.3(CLN6):c.298-196A>G	CLN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679915	NM_017882.3(CLN6):c.298-248G>A	CLN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201910	NM_017882.3(CLN6):c.297+158C>T	CLN6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 205156	NM_017882.3(CLN6):c.297+19del	CLN6	Deletion (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GBenign
Select item 205164	NM_017882.3(CLN6):c.297+1G>A	CLN6	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic

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