"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188351	NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)	NPHP3, NPHP3-ACAD11 (S1314T)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +5 more	GBenign/Likely benign
Select item 262710	NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GBenign
Select item 195996	NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)	NPHP3, NPHP3-ACAD11 (S1252R)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related condition +5 more	GConflicting classifications of pathogenicity
Select item 262704	NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 289555	NM_153240.5(NPHP3):c.2769C>T (p.Phe923=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 220868	NM_153240.5(NPHP3):c.2694-2_2694-1del	NPHP3, NPHP3-ACAD11	Deletion (splice acceptor variant)	Nephronophthisis 3 +5 more	GPathogenic/Likely pathogenic
Select item 262699	NM_153240.5(NPHP3):c.2693+17A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	NPHP3-related Meckel-like syndrome +4 more	GBenign/Likely benign
Select item 194799	NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 2640	NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	NPHP3, NPHP3-ACAD11 (R702*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GPathogenic
Select item 578257	NM_153240.5(NPHP3):c.1903A>G (p.Met635Val)	NPHP3, NPHP3-ACAD11 (M635V)	Single nucleotide variant (missense variant)	Nephronophthisis	GUncertain significance
Select item 262693	NM_153240.5(NPHP3):c.1887+6G>A	NPHP3-ACAD11, NPHP3	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 167380	NM_153240.5(NPHP3):c.450G>A (p.Ala150=)	NPHP3-ACAD11, NPHP3	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder +5 more	GBenign/Likely benign
Select item 241998	NM_153240.5(NPHP3):c.449C>T (p.Ala150Val)	NPHP3, NPHP3-ACAD11 (A150V)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder +5 more	GBenign/Likely benign
Select item 96509	NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)	LOC129937586, NPHP3 +2 more (A52T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +6 more	GConflicting classifications of pathogenicity
Select item 193504	NM_153240.5(NPHP3):c.105G>A (p.Lys35=)	NPHP3-ACAD11, NPHP3-AS1 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder +6 more	GConflicting classifications of pathogenicity