"Illumina Laboratory Services, Illumina"[submitter] AND "NPHP3-AS1"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343391	NM_153240.5(NPHP3):c.384C>G (p.Ala128=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 343392	NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe)	NPHP3-AS1, NPHP3 +1 more (S111F)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GUncertain significance
Select item 343393	NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly)	LOC129937586, NPHP3 +2 more (A87G)	Single nucleotide variant (missense variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +2 more	GUncertain significance
Select item 291105	NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)	LOC129937586, NPHP3 +2 more (G78V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GUncertain significance
Select item 343394	NM_153240.5(NPHP3):c.208C>T (p.Leu70=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 262694	NM_153240.5(NPHP3):c.189G>C (p.Gly63=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
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
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
Select item 343395	NM_153240.4(NPHP3):c.-69A>G	NPHP3, NPHP3-ACAD11 +2 more	Single nucleotide variant (non-coding transcript variant)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GBenign
Select item 343396	NM_153240.4(NPHP3):c.-70C>T	LOC129937587, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant)	Renal-hepatic-pancreatic dysplasia 1 +2 more	GUncertain significance