C0751383[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 56251	NM_001042432.2(CLN3):c.1198-1G>T	CLN3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 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 550544	NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)	CLN3 (Y372* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 550088	NM_001042432.2(CLN3):c.1067dup (p.Val357fs)	CLN3 (V303fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely 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 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 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 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 550025	NM_001042432.2(CLN3):c.963-2A>C	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 557749	NM_001042432.2(CLN3):c.963-63_963-44dup	CLN3	Duplication (intron variant)	Neuronal ceroid lipofuscinosis 3	GLikely benign
Select item 370144	NM_001042432.2(CLN3):c.962+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 3	GLikely 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 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 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 371538	NM_001042432.2(CLN3):c.791-1G>A	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	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 205114	NM_001042432.2(CLN3):c.725AAG[2] (p.Glu244del)	CLN3 (E244del +4 more)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 370233	NM_001042432.2(CLN3):c.683dup (p.Leu230fs)	CLN3 (L152fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 438235	NM_001042432.2(CLN3):c.461-279_677+384del	CLN3	Deletion (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
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 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 56285	NM_001042432.2(CLN3):c.582G>T (p.Leu194=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 56280	NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)	CLN3 (G133fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 56279	NM_001042432.2(CLN3):c.533+1G>C	CLN3	Single nucleotide variant (splice donor 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 556560	NM_001042432.2(CLN3):c.295-2A>C	CLN3	Single nucleotide variant (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 371364	NM_001042432.2(CLN3):c.281_282del (p.Ser94fs)	CLN3 (S40fs +2 more)	Microsatellite (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 56261	NM_001042432.2(CLN3):c.233dup (p.Thr80fs)	CLN3 (A5fs +2 more)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 552523	NM_001042432.2(CLN3):c.223-1G>A	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 550666	NM_001042432.2(CLN3):c.195dup (p.Lys66fs)	CLN3 (K66fs +1 more)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 551790	NM_001042432.2(CLN3):c.125+1del	CLN3	Deletion (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
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 558574	NM_001042432.2(CLN3):c.46+1G>C	CLN3	Single nucleotide variant (splice donor variant)	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 371317	NM_001042432.2(CLN3):c.2T>C (p.Met1Thr)	CLN3 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 550268	NM_001042432.2(CLN3):c.1A>G (p.Met1Val)	CLN3 (M1V)	Single nucleotide variant (missense variant +2 more)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic

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Items: 40