ClinVar for MedGen (Select 339667) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370326	NM_015102.5(NPHP4):c.3641A>G (p.Tyr1214Cys)	NPHP4 (Y1214C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GLikely pathogenic
Select item 3256581	NM_015102.5(NPHP4):c.1323_1324insTCACTCCGACTCCAGTTCTGGAACTGGA (p.Thr442fs)	NPHP4 (T442fs)	Insertion (5 prime UTR variant +2 more)	Nephronophthisis 4	GLikely pathogenic
Select item 3256580	NM_015102.5(NPHP4):c.186_189del (p.Phe62fs)	NPHP4 (F62fs)	Microsatellite (5 prime UTR variant +3 more)	Nephronophthisis 4	GLikely pathogenic
Select item 3236030	NM_015102.5(NPHP4):c.3959T>C (p.Leu1320Pro)	NPHP4 (L1320P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 3066276	NM_015102.5(NPHP4):c.793C>T (p.Gln265Ter)	NPHP4 (Q265*)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis 4	GPathogenic
Select item 3065864	NM_015102.5(NPHP4):c.1897G>A (p.Glu633Lys)	NPHP4 (E120K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 3065000	NM_015102.5(NPHP4):c.673G>T (p.Gly225Cys)	NPHP4 (G225C)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis 4	GUncertain significance
Select item 2681746	NM_015102.5(NPHP4):c.3062del (p.Gln1021fs)	NPHP4 (Q1021fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4	GLikely pathogenic
Select item 2681745	NM_015102.5(NPHP4):c.4237_4249del (p.Asp1413fs)	NPHP4 (D1413fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4	GPathogenic
Select item 2577458	NM_015102.5(NPHP4):c.1336C>T (p.Gln446Ter)	NPHP4 (Q446*)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis 4	GPathogenic
Select item 2506482	NM_015102.5(NPHP4):c.2686del (p.Arg896fs)	NPHP4 (R383fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4	GLikely pathogenic
Select item 1805219	NM_015102.5(NPHP4):c.1503+2dup	NPHP4	Duplication (intron variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 1670685	NM_015102.5(NPHP4):c.3316-15G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1666204	NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 1629984	NM_015102.5(NPHP4):c.3231+7dup	NPHP4	Duplication (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1627176	NM_015102.5(NPHP4):c.1763+14C>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1625671	NM_015102.5(NPHP4):c.2280C>T (p.Ile760=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 1624091	NM_015102.5(NPHP4):c.674-10A>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1592406	NM_015102.5(NPHP4):c.1504-12C>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1591923	NM_015102.5(NPHP4):c.3232-10del	NPHP4	Deletion (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1580824	NM_015102.5(NPHP4):c.828C>T (p.Asp276=)	NPHP4	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1560935	NM_015102.5(NPHP4):c.3817-11C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1559693	NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1559491	NM_015102.5(NPHP4):c.2612-19C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GLikely benign
Select item 1549054	NM_015102.5(NPHP4):c.3044+11A>C	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1548376	NM_015102.5(NPHP4):c.280-18C>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1522934	NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile)	NPHP4 (V377I)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 4 +2 more	GUncertain significance
Select item 1522095	NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala)	NPHP4 (P1222A +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 1516494	NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile)	NPHP4 (T157I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1514603	NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg)	NPHP4 (K809R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GUncertain significance
Select item 1505080	NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr)	NPHP4 (H454Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1501687	NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp)	NPHP4 (R383W +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +2 more	GUncertain significance
Select item 1499197	NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys)	NPHP4 (R814C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1494358	NM_015102.5(NPHP4):c.3816+5G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GUncertain significance
Select item 1494021	NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr)	NPHP4 (A1104T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1490382	NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val)	NPHP4 (A1159V +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +2 more	GUncertain significance
Select item 1487199	NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys)	NPHP4 (Y625C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1484412	NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser)	NPHP4 (G1299S +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 1472709	NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu)	NPHP4 (S480L +1 more)	Single nucleotide variant (nonsense +2 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1472008	NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr)	NPHP4 (A729T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1471897	NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu)	NPHP4 (F697L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1467250	NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys)	NPHP4 (E608K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1466142	NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys)	NPHP4 (Q235K +2 more)	Indel (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1448868	NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp)	NPHP4 (R1373W +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1444198	NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro)	NPHP4 (Q269P)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1443636	NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp)	NPHP4 (G1112D +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1440419	NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys)	NPHP4 (N572K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1439545	NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val)	NPHP4 (A508V)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1439090	NM_015102.5(NPHP4):c.452+3A>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GUncertain significance
Select item 1438761	NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr)	NPHP4 (A1090T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1433031	NM_015102.5(NPHP4):c.2007del (p.Phe670fs)	NPHP4 (F158fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 4 +2 more	GPathogenic/Likely pathogenic
Select item 1431884	NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr)	NPHP4 (C272Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1426781	NM_015102.5(NPHP4):c.863G>A (p.Arg288His)	NPHP4 (R288H)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1425961	NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys)	NPHP4 (R390C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1421626	NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met)	NPHP4 (T352M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1419053	NM_015102.5(NPHP4):c.910G>A (p.Val304Ile)	NPHP4 (V304I)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 1413938	NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp)	NPHP4 (N1000D +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1404085	NM_015102.5(NPHP4):c.2734C>T (p.Arg912Cys)	NPHP4 (R399C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GUncertain significance
Select item 1391001	NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly)	NPHP4 (E57G +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +2 more	GUncertain significance
Select item 1390698	NM_015102.5(NPHP4):c.3996+3C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GUncertain significance
Select item 1389578	NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu)	NPHP4 (S302L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1387867	NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs)	NPHP4 (V745fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis +2 more	GPathogenic
Select item 1382268	NM_015102.5(NPHP4):c.3458G>A (p.Trp1153Ter)	NPHP4 (W640* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 4 +1 more	GPathogenic/Likely pathogenic
Select item 1380519	NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr)	NPHP4 (A827T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +2 more	GUncertain significance
Select item 1369672	NM_015102.5(NPHP4):c.3816+4C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GUncertain significance
Select item 1356149	NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg)	NPHP4 (G474R +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +2 more	GUncertain significance
Select item 1355008	NM_015102.5(NPHP4):c.2834G>A (p.Arg945His)	NPHP4 (R433H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +2 more	GUncertain significance
Select item 1343412	NM_015102.5(NPHP4):c.3920T>A (p.Leu1307Gln)	NPHP4 (L1307Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 1179132	NM_015102.5(NPHP4):c.3644+1G>T	NPHP4	Single nucleotide variant (splice donor variant)	Nephronophthisis +2 more	GPathogenic/Likely pathogenic
Select item 1179061	NM_015102.5(NPHP4):c.1504-1G>A	NPHP4	Single nucleotide variant (intron variant +1 more)	Nephronophthisis 4 +1 more	GLikely pathogenic
Select item 1167868	NM_015102.5(NPHP4):c.3817-20C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GBenign/Likely benign
Select item 1164172	NM_015102.5(NPHP4):c.810+14A>C	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GBenign/Likely benign
Select item 1154233	NM_015102.5(NPHP4):c.2305-20C>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1153882	NM_015102.5(NPHP4):c.675C>T (p.Gly225=)	NPHP4	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis +2 more	GLikely benign
Select item 1141585	NM_015102.5(NPHP4):c.1119+18G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1116760	NM_015102.5(NPHP4):c.1725T>C (p.Pro575=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 4 +2 more	GLikely benign
Select item 1099540	NM_015102.5(NPHP4):c.3044+11_3044+13del	NPHP4	Deletion (intron variant)	Senior-Loken syndrome 4 +2 more	GLikely benign
Select item 1092341	NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +2 more	GLikely benign
Select item 1078865	NM_015102.5(NPHP4):c.1623G>T (p.Pro541=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 4 +2 more	GLikely benign
Select item 1073618	NM_015102.5(NPHP4):c.1271del (p.Lys424fs)	NPHP4 (K424fs)	Deletion (5 prime UTR variant +2 more)	Nephronophthisis 4 +2 more	GPathogenic
Select item 1072607	NM_015102.5(NPHP4):c.2908dup (p.Leu970fs)	NPHP4 (L457fs +2 more)	Duplication (frameshift variant +1 more)	Nephronophthisis +2 more	GPathogenic/Likely pathogenic
Select item 1068634	NM_015102.5(NPHP4):c.3083del (p.Gly1028fs)	NPHP4 (G1028fs +2 more)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 1064304	NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys)	NPHP4 (F1068C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GUncertain significance
Select item 1059127	NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg)	NPHP4 (P483R)	Single nucleotide variant (intron variant +2 more)	Senior-Loken syndrome 4 +2 more	GUncertain significance
Select item 1056125	NM_015102.5(NPHP4):c.3706G>A (p.Val1236Met)	NPHP4 (V1236M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1055979	NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr)	NPHP4 (A444T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1055326	NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser)	NPHP4 (N1011S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1054514	NM_015102.5(NPHP4):c.2304+6G>A	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis +2 more	GUncertain significance
Select item 1054238	NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)	NPHP4 (P193L)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 4 +2 more	GUncertain significance
Select item 1051354	NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp)	NPHP4 (G197D +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +2 more	GUncertain significance
Select item 1046941	NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu)	NPHP4 (P165L)	Single nucleotide variant (5 prime UTR variant +2 more)	Senior-Loken syndrome 4 +2 more	GUncertain significance
Select item 1046156	NM_015102.5(NPHP4):c.1230G>T (p.Gln410His)	NPHP4 (Q410H)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1041307	NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met)	NPHP4 (V605M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1040891	NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro)	NPHP4 (L48P)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1038921	NM_015102.5(NPHP4):c.2358_2360del (p.Val787del)	NPHP4 (V275del +2 more)	Deletion (inframe_deletion +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1035463	NM_015102.5(NPHP4):c.2143+3G>T	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +2 more	GUncertain significance
Select item 1026648	NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys)	NPHP4 (R1247C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +2 more	GUncertain significance
Select item 1024838	NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg)	NPHP4 (W37R)	Single nucleotide variant (5 prime UTR variant +3 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 1022837	NM_015102.5(NPHP4):c.1169G>A (p.Arg390His)	NPHP4 (R390H)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 1018489	NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys)	NPHP4 (R227C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GUncertain significance

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