C0751383[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585706	NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)	CLN3 (P429S +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 205103	NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)	CLN3 (S421F +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 205102	NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	CLN3 (G419E +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 582340	NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)	CLN3 (I414V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 421549	NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)	CLN3 (T412A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 136785	NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 205101	NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)	CLN3 (M409V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 418137	NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	CLN3 (R405W +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 128775	NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	CLN3 (H404N +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +5 more	GConflicting classifications of pathogenicity
Select item 588067	NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)	CLN3 (S401R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205100	NM_001042432.2(CLN3):c.1168G>A (p.Val390Met)	CLN3 (V390M +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GUncertain significance
Select item 194477	NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val)	CLN3 (A388V +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 423507	NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile)	CLN3 (V374I +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 502109	NM_001042432.2(CLN3):c.1087G>A (p.Val363Met)	CLN3 (V363M +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 205098	NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu)	CLN3 (D362E +4 more)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +4 more	GUncertain significance
Select item 884764	NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)	CLN3 (D284N +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 56246	NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)	CLN3 (Q352* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 318718	NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser)	CLN3 (T345S +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 205096	NM_001042432.2(CLN3):c.1028G>A (p.Arg343His)	CLN3 (R343H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 373631	NM_001042432.2(CLN3):c.1013G>A (p.Arg338His)	CLN3 (R338H +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 421563	NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys)	CLN3 (R338C +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 205095	NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)	CLN3 (V330I +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
Select item 205093	NM_001042432.2(CLN3):c.962+3A>T	CLN3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 205092	NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)	CLN3 (Q317* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 418994	NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro)	CLN3 (L313P +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 56290	NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)	CLN3 (E295* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 205083	NM_001042432.2(CLN3):c.868G>T (p.Val290Leu)	CLN3 (V290L +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 438225	NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)	CLN3 (I285V +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 318720	NM_001042432.2(CLN3):c.837+5G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GConflicting classifications of pathogenicity
Select item 136780	NM_001042432.2(CLN3):c.831G>A (p.Val277=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 3 +4 more	GConflicting classifications of pathogenicity
Select item 280317	NM_001042432.2(CLN3):c.816_817del (p.Glu273fs)	CLN3 (E195fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic
Select item 391698	NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp)	CLN3 (R272W +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 56289	NM_001042432.2(CLN3):c.790+3A>C	CLN3	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 420007	NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter)	CLN3 (K262* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic
Select item 840500	NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)	CLN3 (S161L +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +3 more	GUncertain significance
Select item 193616	NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu)	CLN3 (P259L +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +3 more	GUncertain significance
Select item 497479	NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)	CLN3 (E257D +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 205119	NM_001042432.2(CLN3):c.769G>A (p.Glu257Lys)	CLN3 (E257K +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 93505	NM_001042432.2(CLN3):c.768C>T (p.Thr256=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 3 +5 more	GConflicting classifications of pathogenicity
Select item 318721	NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr)	CLN3 (I254T +4 more)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GUncertain significance
Select item 193615	NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser)	CLN3 (P252S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 527729	NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)	CLN3 (R250W +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 205115	NM_001042432.2(CLN3):c.734_736del (p.Ala245del)	CLN3 (A245del +4 more)	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 318722	NM_001042432.2(CLN3):c.677+8G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GConflicting classifications of pathogenicity
Select item 205113	NM_001042432.2(CLN3):c.665T>A (p.Leu222Gln)	CLN3 (L222Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 205112	NM_001042432.2(CLN3):c.649C>A (p.Leu217Met)	CLN3 (L217M +4 more)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +3 more	GUncertain significance
Select item 581864	NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)	CLN3 (S215Y +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GUncertain significance
Select item 205118	NM_001042432.2(CLN3):c.616G>A (p.Gly206Ser)	CLN3 (G206S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3557	NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)	CLN3 (Y199* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 56284	NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)	CLN3 (G192E +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 457954	NM_001042432.2(CLN3):c.569dup (p.Ala191fs)	CLN3 (A113fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic
Select item 288316	NM_001042432.2(CLN3):c.537C>G (p.Ala179=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 136789	NM_001042432.2(CLN3):c.516C>T (p.Leu172=)	CLN3	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 205110	NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr)	CLN3 (A158T +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 855169	NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)	CLN3 (V101G +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 422288	NM_001042432.2(CLN3):c.461-3C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 418607	NM_001042432.2(CLN3):c.461-3C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 457953	NM_001042432.2(CLN3):c.447G>T (p.Gly149=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GLikely benign
Select item 318724	NM_001042432.2(CLN3):c.436C>T (p.His146Tyr)	CLN3 (H146Y +4 more)	Single nucleotide variant (missense variant)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +2 more	GUncertain significance
Select item 205088	NM_001042432.2(CLN3):c.418G>A (p.Val140Ile)	CLN3 (V140I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 205109	NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)	CLN3 (S131N +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 205108	NM_001042432.2(CLN3):c.380G>A (p.Arg127Gln)	CLN3 (R127Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 205107	NM_001042432.2(CLN3):c.361C>G (p.Leu121Val)	CLN3 (L121V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 434791	NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser)	CLN3 (P107S +3 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 509647	NM_001042432.2(CLN3):c.309G>A (p.Ala103=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GLikely benign
Select item 318726	NM_001042432.2(CLN3):c.308C>T (p.Ala103Val)	CLN3 (A103V +3 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 434792	NM_001042432.2(CLN3):c.290C>T (p.Thr97Met)	CLN3 (T97M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 197710	NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu)	CLN3 (F90L +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 205106	NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)	CLN3 (R89Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 197711	NM_001042432.2(CLN3):c.250C>A (p.His84Asn)	CLN3 (H84N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 205105	NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)	CLN3 (P81L +2 more)	Single nucleotide variant (missense variant +2 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GConflicting classifications of pathogenicity
Select item 265379	NM_001042432.2(CLN3):c.240del (p.Pro81fs)	CLN3 (P27fs +2 more)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 449598	NM_001042432.2(CLN3):c.239C>T (p.Thr80Met)	CLN3 (T80M +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 418136	NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)	CLN3 (T80S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 457951	NM_001042432.2(CLN3):c.222T>C (p.His74=)	CLN3 (M1T)	Single nucleotide variant (synonymous variant +2 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 884834	NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)	CLN3 (S15W +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 205104	NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu)	CLN3 (S69L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 497408	NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)	CLN3 (S51F)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 387506	NM_001042432.2(CLN3):c.125+3G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 56249	NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)	CLN3 (W35*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 205097	NM_001042432.2(CLN3):c.49G>A (p.Glu17Lys)	CLN3 (E17K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 566426	NM_001042432.2(CLN3):c.47-3C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 136783	NM_001042432.2(CLN3):c.45G>A (p.Glu15=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis +3 more	GBenign
Select item 424077	NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser)	CLN3 (F11S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 420263	NM_001042432.2(CLN3):c.-1G>T	CLN3	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 85