C0751383[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 588067	NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)	CLN3 (S401R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +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 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 509384	NM_001042432.2(CLN3):c.870A>G (p.Val290=)	CLN3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 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 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 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 511038	NM_001042432.2(CLN3):c.615C>T (p.Ala205=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
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 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 136788	NM_001042432.2(CLN3):c.318C>T (p.Leu106=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
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 418136	NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)	CLN3 (T80S +2 more)	Single nucleotide variant (missense variant +1 more)	CLN3-related disorder +4 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 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 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