Related gene-specific medical variations for Gene (Select 1201) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250318	NM_001042432.2:c.(460+1_461-1)_(677+1_678-1)del	CLN3	Deletion	Retinal dystrophy	GPathogenic
Select item 3243310	NC_000016.9:g.(?_28493406)_(28500727_?)dup	CLN3	Duplication	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 3243309	NC_000016.9:g.(?_28498757)_(28499082_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243307	NC_000016.9:g.(?_28495875)_(28499994_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243306	NC_000016.9:g.(?_28498757)_(28503080_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243305	NC_000016.9:g.(?_28488837)_(28494013_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243304	NC_000016.9:g.(?_28493406)_(28494013_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243303	NC_000016.9:g.(?_28488837)_(28503080_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
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 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 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 2680826	NM_001042432.2(CLN3):c.467del (p.Val156fs)	CLN3 (V102fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
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 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 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 2680821	NM_001042432.2(CLN3):c.47-2del	CLN3	Deletion (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
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 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 2680818	NM_001042432.2(CLN3):c.375-2del	CLN3	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
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 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 2680815	NM_001042432.2(CLN3):c.678-1_680del	CLN3	Deletion (splice acceptor 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 2680813	NM_001042432.2(CLN3):c.379dup (p.Arg127fs)	CLN3 (R103fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely 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 2435726	NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs)	CLN3 (L119fs +3 more)	Insertion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 2431547	NC_000016.10:g.(28485964_28486930)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 1073957	NC_000016.9:g.(?_28484798)_28497560del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 997815	Single allele	CLN3	Deletion	Intellectual disability	GPathogenic
Select item 996830	NM_001042432.2(CLN3):c.1127del (p.Leu376fs)	CLN3 (L276fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 975364	NM_001042432.2(CLN3):c.913CTC[1] (p.Leu306del)	CLN3 (L206del +4 more)	Microsatellite (inframe_deletion)	Intellectual disability	GLikely benign
Select item 865890	NM_001042432.2(CLN3):c.790G>C (p.Gly264Arg)	CLN3 (G164R +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 253522	GRCh37/hg19 16p11.2(chr16:28497795-28498122)x1	CLN3	Copy number loss	See cases	GPathogenic
Select item 253417	GRCh37/hg19 16p11.2(chr16:28497795-28498182)x1	CLN3	Copy number loss	See cases	GPathogenic
Select item 56295	NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter)	CLN3 (Q327* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56294	NM_001042432.2(CLN3):c.963-1G>T	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56291	NM_001042432.2(CLN3):c.906+5G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56286	NM_001042432.2(CLN3):c.586dup (p.Ala196fs)	CLN3 (A172fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56283	NM_001042432.2(CLN3):c.569del (p.Gly190fs)	CLN3 (G136fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56281	NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)	CLN3 (G187A +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56278	NM_001042432.2(CLN3):c.533+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 56276	NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter)	CLN3 (E17*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely 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 56274	NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)	CLN3 (S161* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56273	NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)	CLN3 (A158P +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56272	NM_001042432.2(CLN3):c.461-1G>C	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56270	NM_001042432.2(CLN3):c.461-13G>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56266	NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs)	CLN3 (R49fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56263	NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro)	CLN3 (L101P +3 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56259	NM_001042432.2(CLN3):c.222+2T>G	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56256	NM_001042432.2(CLN3):c.1272del (p.Leu425fs)	CLN3 (L325fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56254	NM_001042432.2(CLN3):c.126-1G>A	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56248	NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)	CLN3 (Q352H +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 3554	NG_008654.2:g.(9848_10812)_(19800_19939)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 3553	NG_008654.2:g.(13298_14630)_(15199_19425)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis 3	GPathogenic

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Links from Gene

Items: 55