C1858392[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188351	NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)	NPHP3-ACAD11, NPHP3 (S1314T)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +5 more	GBenign/Likely benign
Select item 951359	NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser)	NPHP3, NPHP3-ACAD11 (P1303S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 598130	NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln)	NPHP3, NPHP3-ACAD11 (K1301Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 1512935	NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg)	NPHP3, NPHP3-ACAD11 (G1300R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 291194	NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)	NPHP3, NPHP3-ACAD11 (G1299D)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 1056181	NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val)	NPHP3, NPHP3-ACAD11 (E1278V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 2632	NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)	NPHP3, NPHP3-ACAD11 (G1275del)	Microsatellite (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1104909	NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GLikely benign
Select item 1164133	NM_153240.5(NPHP3):c.3813-10T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	NPHP3-related Meckel-like syndrome +3 more	GBenign/Likely benign
Select item 1624399	NM_153240.5(NPHP3):c.3812+16A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis 3 +3 more	GLikely benign
Select item 195995	NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro)	NPHP3, NPHP3-ACAD11 (L1270P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 942300	NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met)	NPHP3, NPHP3-ACAD11 (V1269M)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 1454640	NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)	NPHP3-ACAD11, NPHP3 (R1259*)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GPathogenic/Likely pathogenic
Select item 219480	NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)	NPHP3, NPHP3-ACAD11 (R1255W)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1077017	NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)	NPHP3, NPHP3-ACAD11 (L1253V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +2 more	GLikely pathogenic
Select item 938396	NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser)	NPHP3, NPHP3-ACAD11 (L1241S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1569431	NM_153240.5(NPHP3):c.3696+20C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 262707	NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +6 more	GBenign/Likely benign
Select item 288174	NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val)	NPHP3-ACAD11, NPHP3 (A1221V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 849600	NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg)	NPHP3, NPHP3-ACAD11 (S1217R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 262706	NM_153240.5(NPHP3):c.3570+9G>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1447087	NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1037758	NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu)	NPHP3, NPHP3-ACAD11 (P1174L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 580774	NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys)	NPHP3, NPHP3-ACAD11 (R1167C)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 281413	NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)	NPHP3, NPHP3-ACAD11 (R1165Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1403726	NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg)	NPHP3, NPHP3-ACAD11 (C1145R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 1606566	NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GLikely benign
Select item 1046137	NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln)	NPHP3, NPHP3-ACAD11 (R1125Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 96516	NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)	NPHP3, NPHP3-ACAD11 (R1125*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic
Select item 946581	NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg)	NPHP3, NPHP3-ACAD11 (L1109R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
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 1497093	NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser)	NPHP3, NPHP3-ACAD11 (N1097S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 901257	NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe)	NPHP3, NPHP3-ACAD11 (L1096F)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +2 more	GUncertain significance
Select item 499991	NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His)	NPHP3, NPHP3-ACAD11 (Q1079H)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +4 more	GUncertain significance
Select item 1183890	NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg)	NPHP3, NPHP3-ACAD11 (G1069R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 1656898	NM_153240.5(NPHP3):c.3201+11A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 262703	NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +6 more	GBenign/Likely benign
Select item 1004075	NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly)	NPHP3, NPHP3-ACAD11 (A1046G)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 700294	NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GLikely benign
Select item 1160704	NM_153240.5(NPHP3):c.3126-4T>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	NPHP3-related Meckel-like syndrome +3 more	GLikely benign
Select item 695505	NM_153240.5(NPHP3):c.3126-8T>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GBenign/Likely benign
Select item 1563967	NM_153240.5(NPHP3):c.3126-17T>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely 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)	Renal-hepatic-pancreatic dysplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 497878	NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 286995	NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val)	NPHP3, NPHP3-ACAD11 (A1021V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 498330	NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp)	NPHP3, NPHP3-ACAD11 (G1020D)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 1377505	NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp)	NPHP3, NPHP3-ACAD11 (E1013D)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
Select item 499254	NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val)	NPHP3, NPHP3-ACAD11 (A1011V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GUncertain significance
Select item 1515837	NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln)	NPHP3, NPHP3-ACAD11 (K999Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 531625	NM_153240.5(NPHP3):c.2986G>A (p.Val996Met)	NPHP3, NPHP3-ACAD11 (V996M)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +5 more	GUncertain significance
Select item 998934	NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu)	NPHP3, NPHP3-ACAD11 (P979L)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
Select item 385384	NM_153240.5(NPHP3):c.2931A>G (p.Leu977=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +4 more	GLikely benign
Select item 1546785	NM_153240.5(NPHP3):c.2884-4C>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 1088035	NM_153240.5(NPHP3):c.2884-8C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GLikely benign
Select item 1588564	NM_153240.5(NPHP3):c.2883+16C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 343382	NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)	NPHP3, NPHP3-ACAD11 (Q961E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GUncertain significance
Select item 936828	NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)	NPHP3-ACAD11, NPHP3 (R951*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GPathogenic/Likely pathogenic
Select item 598128	NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile)	NPHP3, NPHP3-ACAD11 (M939I)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 343383	NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg)	NPHP3, NPHP3-ACAD11 (Q928R)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GUncertain significance
Select item 836036	NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn)	NPHP3, NPHP3-ACAD11 (D924N)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 220868	NM_153240.5(NPHP3):c.2694-2_2694-1del	NPHP3, NPHP3-ACAD11	Deletion (splice acceptor variant)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GPathogenic/Likely pathogenic
Select item 262699	NM_153240.5(NPHP3):c.2693+17A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GBenign/Likely benign
Select item 962339	NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro)	NPHP3, NPHP3-ACAD11 (L889P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 289736	NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr)	NPHP3-ACAD11, NPHP3 (H883Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
Select item 571559	NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)	NPHP3, NPHP3-ACAD11 (Q855*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 646548	NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys)	NPHP3, NPHP3-ACAD11 (Y844C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 999580	NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln)	NPHP3, NPHP3-ACAD11 (E833Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GUncertain significance
Select item 1140860	NM_153240.5(NPHP3):c.2395T>C (p.Leu799=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GLikely benign
Select item 500644	NM_153240.5(NPHP3):c.2346G>A (p.Val782=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GConflicting classifications of pathogenicity
Select item 1349972	NM_153240.5(NPHP3):c.2311A>G (p.Ile771Val)	NPHP3, NPHP3-ACAD11 (I771V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 499565	NM_153240.5(NPHP3):c.2311-2A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 262698	NM_153240.5(NPHP3):c.2311-6A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GLikely benign
Select item 1483690	NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu)	NPHP3, NPHP3-ACAD11 (M768L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 498139	NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp)	NPHP3, NPHP3-ACAD11 (R756W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1404988	NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val)	NPHP3, NPHP3-ACAD11 (I755V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 845023	NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu)	NPHP3, NPHP3-ACAD11 (I755L)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GUncertain significance
Select item 1081474	NM_153240.5(NPHP3):c.2259C>T (p.His753=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GLikely benign
Select item 933967	NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr)	NPHP3, NPHP3-ACAD11 (C741Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 194681	NM_153240.5(NPHP3):c.2172-4A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 1347165	NM_153240.5(NPHP3):c.2171+1G>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (splice donor variant)	Nephronophthisis +3 more	GLikely pathogenic
Select item 1417499	NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys)	NPHP3, NPHP3-ACAD11 (R724C)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 954988	NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser)	NPHP3, NPHP3-ACAD11 (G719S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GUncertain significance
Select item 1054954	NM_153240.5(NPHP3):c.2109C>G (p.His703Gln)	NPHP3, NPHP3-ACAD11 (H703Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
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)	NPHP3-related Meckel-like syndrome +5 more	GPathogenic
Select item 499325	NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu)	NPHP3, NPHP3-ACAD11 (K694E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 462725	NM_153240.5(NPHP3):c.1985+1G>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (splice donor variant)	Nephronophthisis +3 more	GPathogenic/Likely pathogenic
Select item 900220	NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile)	NPHP3, NPHP3-ACAD11 (V631I)	Single nucleotide variant (missense variant)	Nephronophthisis +3 more	GUncertain significance
Select item 1533891	NM_153240.5(NPHP3):c.1887+17del	NPHP3, NPHP3-ACAD11	Deletion (intron variant)	NPHP3-related Meckel-like syndrome +3 more	GLikely benign
Select item 1026108	NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val)	NPHP3-ACAD11, NPHP3 (I625V)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
Select item 850966	NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met)	NPHP3, NPHP3-ACAD11 (I619M)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 216136	NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)	NPHP3, NPHP3-ACAD11 (W606*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GPathogenic/Likely pathogenic
Select item 343387	NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)	NPHP3, NPHP3-ACAD11 (R605C)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +6 more	GUncertain significance
Select item 846397	NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala)	NPHP3, NPHP3-ACAD11 (T593A)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 901926	NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys)	NPHP3, NPHP3-ACAD11 (S586C)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
Select item 291053	NM_153240.5(NPHP3):c.1533A>T (p.Gln511His)	NPHP3, NPHP3-ACAD11 (Q511H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GUncertain significance
Select item 960492	NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His)	NPHP3, NPHP3-ACAD11 (Y509H)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 954456	NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg)	NPHP3, NPHP3-ACAD11 (G505R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1046216	NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp)	NPHP3, NPHP3-ACAD11 (E492D)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 501362	NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu)	NPHP3, NPHP3-ACAD11 (M491L)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
Select item 641403	NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val)	NPHP3, NPHP3-ACAD11 (I471V)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance

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