"Baylor Genetics"[submitter] AND "CLN3"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56252	NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)	CLN3 (D416G +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
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 1908122	NM_001042432.2(CLN3):c.1197+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 56250	NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)	CLN3 (E399* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2012105	NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)	CLN3 (V274fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 975016	NM_001042432.2(CLN3):c.1075del (p.Leu359fs)	CLN3 (L259fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 370675	NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)	CLN3 (C353* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 56247	NM_001042432.2(CLN3):c.1056+3A>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 2680820	NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)	CLN3 (C253fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
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 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 56244	NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)	CLN3 (R334H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 56243	NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)	CLN3 (R334C +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 1075948	NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)	CLN3 (F307fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 56296	NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)	CLN3 (V330F +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GLikely pathogenic
Select item 370667	NM_001042432.2(CLN3):c.963-1G>A	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 56293	NM_001042432.2(CLN3):c.954_962+18del	CLN3	Deletion (splice donor variant)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 56292	NM_001042432.2(CLN3):c.944dup (p.His315fs)	CLN3 (H315fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis +1 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 3241174	NM_001042432.2(CLN3):c.936_937del (p.Leu313fs)	CLN3 (L213fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680814	NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)	CLN3	Deletion (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 813031	NM_001042432.2(CLN3):c.922_923del (p.Phe308fs)	CLN3 (F208fs +4 more)	Deletion (frameshift variant)	Cone-rod dystrophy +2 more	GPathogenic
Select item 2680819	NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)	CLN3 (E204* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 370455	NM_001042432.2(CLN3):c.906+2T>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
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 3556	NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)	CLN3 (E295K +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GPathogenic
Select item 2680817	NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)	CLN3 (W183* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2131001	NM_001042432.2(CLN3):c.790+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 552706	NM_001042432.2(CLN3):c.790+1del	CLN3	Deletion (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 866297	NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)	CLN3 (Q251* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 2769845	NM_001042432.2(CLN3):c.729del (p.Glu244fs)	CLN3 (E244fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2680815	NM_001042432.2(CLN3):c.678-1_680del	CLN3	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 3241175	NM_001042432.2(CLN3):c.677+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 371459	NM_001042432.2(CLN3):c.677+1G>T	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
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 1378760	NM_001042432.2(CLN3):c.639del (p.Leu214fs)	CLN3 (L114fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 56288	NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)	CLN3 (Q211* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 56287	NM_001042432.2(CLN3):c.622dup (p.Ser208fs)	CLN3 (S130fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic
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 650372	NM_001042432.2(CLN3):c.565G>A (p.Gly189Arg)	CLN3 (G111R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 56282	NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)	CLN3 (G189R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2680812	NM_001042432.2(CLN3):c.555del (p.Ser186fs)	CLN3 (S108fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2032700	NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)	CLN3 (W160* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2417180	NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)	CLN3 (W106* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 948224	NM_001042432.2(CLN3):c.534-2A>G	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 56275	NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)	CLN3 (S162* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 2680826	NM_001042432.2(CLN3):c.467del (p.Val156fs)	CLN3 (V102fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 655836	NM_001042432.2(CLN3):c.461-1G>T	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
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 56269	NM_001042432.2(CLN3):c.424del (p.Val142fs)	CLN3 (V88fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 2680825	NM_001042432.2(CLN3):c.419del (p.Val140fs)	CLN3 (V116fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680813	NM_001042432.2(CLN3):c.379dup (p.Arg127fs)	CLN3 (R103fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680818	NM_001042432.2(CLN3):c.375-2del	CLN3	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680822	NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)	CLN3 (Y100* +3 more)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56264	NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)	CLN3 (Y100fs +3 more)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2680816	NM_001042432.2(CLN3):c.363dup (p.Leu122fs)	CLN3 (L122fs +3 more)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56262	NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)	CLN3 (R89* +1 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2680827	NM_001042432.2(CLN3):c.250del (p.His84fs)	CLN3 (H30fs +2 more)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56258	NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)	CLN3 (Q72* +1 more)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
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 950856	NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	CLN3 (A5T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2201536	NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)	CLN3 (W42*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 56253	NM_001042432.2(CLN3):c.125+5G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2680824	NM_001042432.2(CLN3):c.125+2T>C	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 953100	NM_001042432.2(CLN3):c.125+1G>C	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 554608	NM_001042432.2(CLN3):c.47-1G>A	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 2680821	NM_001042432.2(CLN3):c.47-2del	CLN3	Deletion (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 370243	NM_001042432.2(CLN3):c.46+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 2001596	NM_001042432.2(CLN3):c.18del (p.Ser7fs)	CLN3 (S7fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic

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Items: 69