ClinVar for MedGen (Select 811626) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 249

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585009	NM_153240.5(NPHP3):c.176C>T (p.Ser59Leu)	LOC129937586, NPHP3 +2 more (S59L)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GUncertain significance
Select item 2584826	NM_153240.5(NPHP3):c.3466G>T (p.Glu1156Ter)	NPHP3, NPHP3-ACAD11 (E1156*)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GLikely pathogenic
Select item 1706521	NM_153240.5(NPHP3):c.69del (p.Gly24fs)	LOC129937586, NPHP3 +2 more (G24fs)	Deletion (frameshift variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GPathogenic
Select item 1705947	NM_153240.5(NPHP3):c.1761G>A (p.Trp587Ter)	NPHP3, NPHP3-ACAD11 (W587*)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GLikely pathogenic
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 1624803	NM_153240.5(NPHP3):c.237G>A (p.Ser79=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GLikely 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 1619787	NM_153240.5(NPHP3):c.1245T>G (p.Val415=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GLikely benign
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 1588564	NM_153240.5(NPHP3):c.2883+16C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
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 1563967	NM_153240.5(NPHP3):c.3126-17T>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 1556158	NM_153240.5(NPHP3):c.671-14C>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GLikely benign
Select item 1547081	NM_153240.5(NPHP3):c.1068A>G (p.Glu356=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 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 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 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 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 1500050	NM_153240.5(NPHP3):c.155C>T (p.Ala52Val)	NPHP3-ACAD11, NPHP3-AS1 +2 more (A52V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 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 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 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 1454636	NM_153240.5(NPHP3):c.469del (p.Arg157fs)	NPHP3, NPHP3-ACAD11 (R157fs)	Deletion (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GPathogenic
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 1421374	NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg)	LOC129937586, NPHP3 +2 more (K75R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1418125	NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr)	NPHP3, NPHP3-ACAD11 (D320Y)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +3 more	GUncertain significance
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 1408555	NM_153240.5(NPHP3):c.1dup (p.Met1fs)	NPHP3, NPHP3-ACAD11 +1 more (M1fs)	Duplication (non-coding transcript variant +2 more)	Nephronophthisis +3 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 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 1398189	NM_153240.5(NPHP3):c.185G>A (p.Arg62His)	LOC129937586, NPHP3 +2 more (R62H)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1386222	NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys)	LOC129937586, NPHP3 +2 more (E26K)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 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 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 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 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 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 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 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 1137633	NM_153240.5(NPHP3):c.1308A>G (p.Gly436=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GLikely benign
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 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 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 1078520	NM_153240.5(NPHP3):c.1404G>A (p.Glu468=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GLikely benign
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 1057389	NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu)	LOC129937586, NPHP3 +2 more (G54E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
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 1055654	NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr)	NPHP3-ACAD11, NPHP3 (I343T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 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 1046540	NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys)	NPHP3, NPHP3-ACAD11 +1 more (E116K)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +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 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 1045056	NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu)	NPHP3, NPHP3-ACAD11 (Q286E)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1039978	NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys)	NPHP3, NPHP3-ACAD11 (Y441C)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GUncertain significance
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 1034512	NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro)	LOC129937586, NPHP3 +2 more (L70P)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GUncertain significance
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 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 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 999142	NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu)	NPHP3-ACAD11, NPHP3-AS1 +2 more (R39L)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder +4 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 996537	NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder +2 more	GPathogenic/Likely pathogenic
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 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 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 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 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 949984	NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu)	LOC129937586, NPHP3 +2 more (G63E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GUncertain significance
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 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 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 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 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 903616	NM_153240.5(NPHP3):c.*141T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 903615	NM_153240.5(NPHP3):c.*178T>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 3 +2 more	GUncertain significance
Select item 903379	NM_153240.5(NPHP3):c.*1184A>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Renal-hepatic-pancreatic dysplasia 1 +2 more	GUncertain significance
Select item 903378	NM_153240.5(NPHP3):c.*1188A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 3 +2 more	GUncertain significance
Select item 902831	NM_153240.5(NPHP3):c.1524+11G>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis 3 +2 more	GUncertain significance
Select item 902644	NM_153240.5(NPHP3):c.3697-7T>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	NPHP3-related Meckel-like syndrome +3 more	GUncertain significance
Select item 902587	NM_153240.5(NPHP3):c.*852C>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Renal-hepatic-pancreatic dysplasia 1 +2 more	GUncertain significance
Select item 902586	NM_153240.5(NPHP3):c.*926C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Renal-hepatic-pancreatic dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 901991	NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr)	NPHP3, NPHP3-ACAD11 (K167T)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +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 901547	NM_153240.5(NPHP3):c.*351A>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 3 +2 more	GUncertain significance
Select item 901430	NM_153240.5(NPHP3):c.1118+11A>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Renal-hepatic-pancreatic dysplasia 1 +3 more	GConflicting classifications of pathogenicity
Select item 901375	NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser)	NPHP3, NPHP3-ACAD11 (I618S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +2 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 900990	NM_153240.5(NPHP3):c.*437C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 3 +2 more	GUncertain significance
Select item 900989	NM_153240.5(NPHP3):c.*626C>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Renal-hepatic-pancreatic dysplasia 1 +2 more	GUncertain significance
Select item 900923	NM_153240.5(NPHP3):c.*1094A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	Renal-hepatic-pancreatic dysplasia 1 +2 more	GUncertain significance
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 900219	NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu)	NPHP3-ACAD11, NPHP3 (P659L)	Single nucleotide variant (missense variant)	Nephronophthisis +4 more	GUncertain significance
Select item 863223	NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu)	NPHP3, NPHP3-ACAD11 (D344E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 858100	NM_153240.5(NPHP3):c.146C>T (p.Ala49Val)	LOC129937586, NPHP3 +2 more (A49V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +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 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 848816	NM_153240.5(NPHP3):c.958-2A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
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 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 839634	NM_153240.5(NPHP3):c.1190G>A (p.Arg397His)	NPHP3, NPHP3-ACAD11 (R397H)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +4 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3