"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712471	NM_153240.5(NPHP3):c.*108G>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Kidney disorder	GUncertain significance
Select item 262714	NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)	NPHP3, NPHP3-ACAD11 (F1324S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 218850	NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)	NPHP3, NPHP3-ACAD11 (R1305C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 262707	NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)	NPHP3-ACAD11, NPHP3	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +6 more	GBenign/Likely benign
Select item 262706	NM_153240.5(NPHP3):c.3570+9G>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 262705	NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)	NPHP3, NPHP3-ACAD11 (R1167H)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 598704	NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys)	NPHP3, NPHP3-ACAD11 (Y1104C)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder +5 more	GUncertain significance
Select item 262703	NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +6 more	GBenign/Likely benign
Select item 262701	NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1712346	NM_153240.5(NPHP3):c.2670T>G (p.Phe890Leu)	NPHP3, NPHP3-ACAD11 (F890L)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder	GUncertain significance
Select item 96512	NM_153240.5(NPHP3):c.2571-7T>C	NPHP3-ACAD11, NPHP3	Single nucleotide variant (intron variant)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 697112	NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)	NPHP3, NPHP3-ACAD11 (N711S)	Single nucleotide variant (non-coding transcript variant +1 more)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1712429	NM_153240.5(NPHP3):c.2042T>G (p.Ile681Arg)	NPHP3-ACAD11, NPHP3 (I681R)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder	GUncertain significance
Select item 1712430	NM_153240.5(NPHP3):c.1958A>G (p.Asn653Ser)	NPHP3-ACAD11, NPHP3 (N653S)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 197881	NM_153240.5(NPHP3):c.864T>A (p.Thr288=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder +5 more	GBenign/Likely benign
Select item 1712360	NM_153240.5(NPHP3):c.713G>C (p.Gly238Ala)	NPHP3-ACAD11, NPHP3 (G238A)	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder	GUncertain significance
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=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 167369	NM_153240.5(NPHP3):c.57G>C (p.Thr19=)	NPHP3-ACAD11, NPHP3-AS1 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Kidney disorder +5 more	GBenign/Likely benign

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Items: 21