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

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1561661	NM_015102.5(NPHP4):c.3915C>T (p.Leu1305=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +1 more	GLikely benign
Select item 95685	NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)	NPHP4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 196032	NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)	NPHP4 (T1225M +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +5 more	GBenign/Likely benign
Select item 867163	NM_015102.5(NPHP4):c.3644+1G>A	NPHP4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 220304	NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)	NPHP4 (P1160L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 95682	NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	NPHP4 (A1110V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 95681	NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 195614	NM_015102.5(NPHP4):c.2892C>T (p.Ala964=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167373	NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	NPHP4 (R961H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +6 more	GConflicting classifications of pathogenicity
Select item 240969	NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)	NPHP4 (R959Q +2 more)	Single nucleotide variant (missense variant +1 more)	Kidney disorder +4 more	GBenign/Likely benign
Select item 95678	NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 95675	NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)	NPHP4 (R848W +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +4 more	GBenign/Likely benign
Select item 596273	NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)	NPHP4 (R775W +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +4 more	GUncertain significance
Select item 194764	NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	NPHP4 (D753N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +5 more	GConflicting classifications of pathogenicity
Select item 240967	NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	NPHP4 (R740H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1465073	NM_015102.5(NPHP4):c.2206C>T (p.Arg736Cys)	NPHP4 (R223C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 240965	NM_015102.5(NPHP4):c.1852G>A (p.Glu618Lys)	NPHP4 (E618K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +5 more	GBenign/Likely benign
Select item 260545	NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)	NPHP4 (A544G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 95672	NM_015102.5(NPHP4):c.1611+9C>T	NPHP4	Single nucleotide variant (intron variant)	Senior-Loken syndrome 4 +5 more	GBenign
Select item 598518	NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser)	NPHP4 (G529S)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 260543	NM_015102.5(NPHP4):c.1470C>T (p.Leu490=)	NPHP4	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GBenign
Select item 166893	NM_015102.5(NPHP4):c.1442-7C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +5 more	GBenign/Likely benign
Select item 297823	NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)	NPHP4 (E399G)	Single nucleotide variant (5 prime UTR variant +2 more)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 281181	NM_015102.5(NPHP4):c.1024C>T (p.Arg342Cys)	NPHP4 (R342C)	Single nucleotide variant (5 prime UTR variant +2 more)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 297830	NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)	NPHP4 (P86L)	Single nucleotide variant (5 prime UTR variant +3 more)	Senior-Loken syndrome 4 +6 more	GUncertain significance
Select item 220231	NM_015102.5(NPHP4):c.136-4del	NPHP4	Deletion (intron variant)	Renal dysplasia and retinal aplasia +4 more	GBenign/Likely benign
Select item 260561	NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)	NPHP4 (T29M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +5 more	GBenign
Select item 931168	NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)	NPHP4 (W4*)	Single nucleotide variant (5 prime UTR variant +3 more)	Senior-Loken syndrome 4 +3 more	GPathogenic/Likely pathogenic

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Items: 28