"Eurofins Ntd Llc (ga)"[submitter] AND "NPHP3-AS1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284997	NM_153240.5(NPHP3):c.393+7C>G	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 500029	NM_153240.5(NPHP3):c.370A>G (p.Lys124Glu)	NPHP3, NPHP3-ACAD11 +1 more (K124E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 597212	NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala)	NPHP3, NPHP3-ACAD11 +1 more (E108A)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 598596	NM_153240.5(NPHP3):c.312C>G (p.Ser104Arg)	NPHP3, NPHP3-ACAD11 +1 more (S104R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 513225	NM_153240.5(NPHP3):c.306C>T (p.Arg102=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 598645	NM_153240.5(NPHP3):c.284G>A (p.Arg95Lys)	LOC129937586, NPHP3 +2 more (R95K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 593900	NM_153240.5(NPHP3):c.276G>C (p.Glu92Asp)	NPHP3-ACAD11, NPHP3-AS1 +2 more (E92D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193505	NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer)	LOC129937586, NPHP3-ACAD11 +2 more	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 499619	NM_153240.5(NPHP3):c.262G>T (p.Ala88Ser)	NPHP3-AS1, LOC129937586 +2 more (A88S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 462726	NM_153240.5(NPHP3):c.255G>A (p.Glu85=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 290371	NM_153240.5(NPHP3):c.245C>A (p.Pro82Gln)	LOC129937586, NPHP3 +2 more (P82Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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)	Meckel-Gruber syndrome +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 3 +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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 597246	NM_153240.5(NPHP3):c.171C>A (p.Pro57=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 502325	NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del)	LOC129937586, NPHP3 +2 more (A53del)	Microsatellite (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 594322	NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly)	LOC129937586, NPHP3 +2 more (A53G)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
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)	Kidney disorder +6 more	GConflicting classifications of pathogenicity
Select item 498043	NM_153240.5(NPHP3):c.151_152delinsTT (p.Ala51Leu)	LOC129937586, NPHP3 +2 more (A51L)	Indel (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 498140	NM_153240.5(NPHP3):c.118C>T (p.Leu40=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193504	NM_153240.5(NPHP3):c.105G>A (p.Lys35=)	NPHP3-AS1, LOC129937586 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +6 more	GConflicting classifications of pathogenicity
Select item 497620	NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp)	NPHP3, NPHP3-ACAD11 +2 more (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 498606	NM_153240.5(NPHP3):c.81C>T (p.Ala27=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 500896	NM_153240.5(NPHP3):c.65C>T (p.Ala22Val)	NPHP3-AS1, LOC129937586 +2 more (A22V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GUncertain significance
Select item 594824	NM_153240.5(NPHP3):c.63G>A (p.Gly21=)	NPHP3, NPHP3-ACAD11 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 167369	NM_153240.5(NPHP3):c.57G>C (p.Thr19=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 595352	NM_153240.5(NPHP3):c.39G>A (p.Gly13=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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Items: 27