ClinVar for MedGen (Select 339667) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25774581.	NM_015102.5(NPHP4):c.1336C>T (p.Gln446Ter) GRCh37: Chr1:5987814 GRCh38: Chr1:5927754	NPHP4	Q446*	Nephronophthisis 4	Pathogenic (Mar 22, 2023)	no assertion criteria provided
Select item 25064822.	NM_015102.5(NPHP4):c.2686del (p.Arg896fs) GRCh37: Chr1:5937284 GRCh38: Chr1:5877224	NPHP4	R383fs, R384fs, R896fs	Nephronophthisis 4	Likely pathogenic (Nov 25, 2022)	criteria provided, single submitter
Select item 18052193.	NM_015102.5(NPHP4):c.1503+2dup GRCh37: Chr1:5969209-5969210 GRCh38: Chr1:5909149-5909150	NPHP4		Nephronophthisis 4	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 16706854.	NM_015102.5(NPHP4):c.3316-15G>A GRCh37: Chr1:5927971 GRCh38: Chr1:5867911	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16662045.	NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=) GRCh37: Chr1:5925237 GRCh38: Chr1:5865177	NPHP4		Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16299846.	NM_015102.5(NPHP4):c.3231+7dup GRCh37: Chr1:5934523-5934524 GRCh38: Chr1:5874463-5874464	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16271767.	NM_015102.5(NPHP4):c.1763+14C>G GRCh37: Chr1:5965678 GRCh38: Chr1:5905618	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16256718.	NM_015102.5(NPHP4):c.2280C>T (p.Ile760=) GRCh37: Chr1:5950952 GRCh38: Chr1:5890892	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16240919.	NM_015102.5(NPHP4):c.674-10A>G GRCh37: Chr1:6012906 GRCh38: Chr1:5952846	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159240610.	NM_015102.5(NPHP4):c.1504-12C>G GRCh37: Chr1:5967294 GRCh38: Chr1:5907234	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159192311.	NM_015102.5(NPHP4):c.3232-10del GRCh37: Chr1:5933405 GRCh38: Chr1:5873345	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Likely benign (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158082412.	NM_015102.5(NPHP4):c.828C>T (p.Asp276=) GRCh37: Chr1:6008294 GRCh38: Chr1:5948234	NPHP4		Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156093513.	NM_015102.5(NPHP4):c.3817-11C>T GRCh37: Chr1:5924588 GRCh38: Chr1:5864528	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Likely benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155969314.	NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=) GRCh37: Chr1:5923439 GRCh38: Chr1:5863379	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155949115.	NM_015102.5(NPHP4):c.2612-19C>T GRCh37: Chr1:5937377 GRCh38: Chr1:5877317	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154905416.	NM_015102.5(NPHP4):c.3044+11A>C GRCh37: Chr1:5934923 GRCh38: Chr1:5874863	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Likely benign (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154837617.	NM_015102.5(NPHP4):c.280-18C>G GRCh37: Chr1:6029337 GRCh38: Chr1:5969277	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152293418.	NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile) GRCh37: Chr1:5993380 GRCh38: Chr1:5933320	NPHP4	V377I	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 152209519.	NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala) GRCh37: Chr1:5925314 GRCh38: Chr1:5865254	NPHP4	P1222A, P710A, P709A	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151649420.	NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile) GRCh37: Chr1:5964814 GRCh38: Chr1:5904754	NPHP4	T157I, T156I, T669I	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151460321.	NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg) GRCh37: Chr1:5947405 GRCh38: Chr1:5887345	NPHP4	K809R, K296R, K297R	NPHP4-related condition, Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150508022.	NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr) GRCh37: Chr1:5987790 GRCh38: Chr1:5927730	NPHP4	H454Y	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150168723.	NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp) GRCh37: Chr1:5937284 GRCh38: Chr1:5877224	NPHP4	R383W, R384W, R896W	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149919724.	NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys) GRCh37: Chr1:5924418 GRCh38: Chr1:5864358	NPHP4	R814C, R1326C, R813C	not provided, Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149435825.	NM_015102.5(NPHP4):c.3816+5G>A GRCh37: Chr1:5925157 GRCh38: Chr1:5865097	NPHP4		Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149402126.	NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr) GRCh37: Chr1:5933317 GRCh38: Chr1:5873257	NPHP4	A1104T, A592T, A591T	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4, Inborn genetic diseases	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149038227.	NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val) GRCh37: Chr1:5927172 GRCh38: Chr1:5867112	NPHP4	A1159V, A646V, A647V	Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148719928.	NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys) GRCh37: Chr1:5927862 GRCh38: Chr1:5867802	NPHP4	Y625C, Y624C, Y1137C	Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148441229.	NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser) GRCh37: Chr1:5924499 GRCh38: Chr1:5864439	NPHP4	G1299S, G786S, G787S	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis, Inborn genetic diseases	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 147270930.	NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu) GRCh37: Chr1:5987711 GRCh38: Chr1:5927651	NPHP4	S480L, R25*	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147200831.	NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr) GRCh37: Chr1:5925254 GRCh38: Chr1:5865194	NPHP4	A729T, A730T, A1242T	Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147189732.	NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu) GRCh37: Chr1:5926447 GRCh38: Chr1:5866387	NPHP4	F697L, F698L, F1210L	Nephronophthisis, Inborn genetic diseases, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 146725033.	NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys) GRCh37: Chr1:5965485 GRCh38: Chr1:5905425	NPHP4	E608K, E96K, E95K	Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146614234.	NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys) GRCh37: Chr1:5950990-5950991 GRCh38: Chr1:5890930-5890931	NPHP4	Q235K, Q748K, Q236K	Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144886835.	NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp) GRCh37: Chr1:5923973 GRCh38: Chr1:5863913	NPHP4	R1373W, R860W, R861W	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144419836.	NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro) GRCh37: Chr1:6012764 GRCh38: Chr1:5952704	NPHP4	Q269P	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4, Inborn genetic diseases	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144363637.	NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp) GRCh37: Chr1:5927937 GRCh38: Chr1:5867877	NPHP4	G1112D, G599D, G600D	Nephronophthisis 4, Senior-Loken syndrome 4, Inborn genetic diseases, Nephronophthisis	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144041938.	NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys) GRCh37: Chr1:5933375 GRCh38: Chr1:5873315	NPHP4	N572K, N1084K, N571K	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143954539.	NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val) GRCh37: Chr1:5967263 GRCh38: Chr1:5907203	NPHP4	A508V	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143909040.	NM_015102.5(NPHP4):c.452+3A>G GRCh37: Chr1:6029144 GRCh38: Chr1:5969084	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143876141.	NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr) GRCh37: Chr1:5933359 GRCh38: Chr1:5873299	NPHP4	A1090T, A577T, A578T	Inborn genetic diseases, Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143303142.	NM_015102.5(NPHP4):c.2007del (p.Phe670fs) GRCh37: Chr1:5964813 GRCh38: Chr1:5904753	NPHP4	F158fs, F157fs, F670fs	Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143188443.	NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr) GRCh37: Chr1:6008307 GRCh38: Chr1:5948247	NPHP4	C272Y	Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142678144.	NM_015102.5(NPHP4):c.863G>A (p.Arg288His) GRCh37: Chr1:6008259 GRCh38: Chr1:5948199	NPHP4	R288H	Nephronophthisis, NPHP4-related condition, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Jun 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 142596145.	NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys) GRCh37: Chr1:5993341 GRCh38: Chr1:5933281	NPHP4	R390C	Inborn genetic diseases, Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142162646.	NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met) GRCh37: Chr1:5940191 GRCh38: Chr1:5880131	NPHP4	T352M, T353M, T865M	Inborn genetic diseases, Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4, NPHP4-related condition	Uncertain significance (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141905347.	NM_015102.5(NPHP4):c.910G>A (p.Val304Ile) GRCh37: Chr1:6008212 GRCh38: Chr1:5948152	NPHP4	V304I	Inborn genetic diseases, Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jun 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141393848.	NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp) GRCh37: Chr1:5934980 GRCh38: Chr1:5874920	NPHP4	N1000D, N487D, N488D	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139100149.	NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly) GRCh37: Chr1:5965746 GRCh38: Chr1:5905686	NPHP4	E57G, E58G, E570G	Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Mar 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139069850.	NM_015102.5(NPHP4):c.3996+3C>T GRCh37: Chr1:5924395 GRCh38: Chr1:5864335	NPHP4		Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis	Uncertain significance (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138957851.	NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu) GRCh37: Chr1:5947387 GRCh38: Chr1:5887327	NPHP4	S302L, S815L, S303L	Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138786752.	NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs) GRCh37: Chr1:5925202-5925205 GRCh38: Chr1:5865142-5865145	NPHP4	V745fs, V746fs, V1258fs	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Pathogenic (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138051953.	NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr) GRCh37: Chr1:5924072 GRCh38: Chr1:5864012	NPHP4	A827T, A828T, A1340T	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Apr 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136967254.	NM_015102.5(NPHP4):c.3816+4C>T GRCh37: Chr1:5925158 GRCh38: Chr1:5865098	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135614955.	NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg) GRCh37: Chr1:5935022 GRCh38: Chr1:5874962	NPHP4	G474R, G473R, G986R	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135500856.	NM_015102.5(NPHP4):c.2834G>A (p.Arg945His) GRCh37: Chr1:5935144 GRCh38: Chr1:5875084	NPHP4	R433H, R945H, R432H	Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134341257.	NM_015102.5(NPHP4):c.3920T>A (p.Leu1307Gln) GRCh37: Chr1:5924474 GRCh38: Chr1:5864414	NPHP4	L1307Q, L794Q, L795Q	Nephronophthisis 4	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 117913258.	NM_015102.5(NPHP4):c.3644+1G>T GRCh37: Chr1:5926432 GRCh38: Chr1:5866372	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Pathogenic/Likely pathogenic (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117906159.	NM_015102.5(NPHP4):c.1504-1G>A GRCh37: Chr1:5967283 GRCh38: Chr1:5907223	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 116786860.	NM_015102.5(NPHP4):c.3817-20C>T GRCh37: Chr1:5924597 GRCh38: Chr1:5864537	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Benign/Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116417261.	NM_015102.5(NPHP4):c.810+14A>C GRCh37: Chr1:6012746 GRCh38: Chr1:5952686	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115423362.	NM_015102.5(NPHP4):c.2305-20C>T GRCh37: Chr1:5947546 GRCh38: Chr1:5887486	NPHP4		Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115388263.	NM_015102.5(NPHP4):c.675C>T (p.Gly225=) GRCh37: Chr1:6012895 GRCh38: Chr1:5952835	NPHP4		Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Likely benign (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114158564.	NM_015102.5(NPHP4):c.1119+18G>A GRCh37: Chr1:6007146 GRCh38: Chr1:5947086	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111676065.	NM_015102.5(NPHP4):c.1725T>C (p.Pro575=) GRCh37: Chr1:5965730 GRCh38: Chr1:5905670	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Likely benign (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109954066.	NM_015102.5(NPHP4):c.3044+11_3044+13del GRCh37: Chr1:5934921-5934923 GRCh38: Chr1:5874861-5874863	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109234167.	NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=) GRCh37: Chr1:5934711 GRCh38: Chr1:5874651	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107886568.	NM_015102.5(NPHP4):c.1623G>T (p.Pro541=) GRCh37: Chr1:5965832 GRCh38: Chr1:5905772	NPHP4		Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107361869.	NM_015102.5(NPHP4):c.1271del (p.Lys424fs) GRCh37: Chr1:5993238 GRCh38: Chr1:5933178	NPHP4	K424fs	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Pathogenic (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107260770.	NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) GRCh37: Chr1:5935069-5935070 GRCh38: Chr1:5875009-5875010	NPHP4	L457fs, L458fs, L970fs	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Pathogenic/Likely pathogenic (Apr 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106863471.	NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) GRCh37: Chr1:5934679 GRCh38: Chr1:5874619	NPHP4	G1028fs, G515fs, G516fs	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106430472.	NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys) GRCh37: Chr1:5934559 GRCh38: Chr1:5874499	NPHP4	F1068C, F555C, F556C	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105912773.	NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg) GRCh37: Chr1:5969267 GRCh38: Chr1:5909207	NPHP4	P483R	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105597974.	NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr) GRCh37: Chr1:5935109 GRCh38: Chr1:5875049	NPHP4	A444T, A445T, A957T	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105532675.	NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser) GRCh37: Chr1:5934946 GRCh38: Chr1:5874886	NPHP4	N1011S, N498S, N499S	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105451476.	NM_015102.5(NPHP4):c.2304+6G>A GRCh37: Chr1:5950922 GRCh38: Chr1:5890862	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105423877.	NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu) GRCh37: Chr1:6021949 GRCh38: Chr1:5961889	NPHP4	P193L	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105135478.	NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp) GRCh37: Chr1:5964691 GRCh38: Chr1:5904631	NPHP4	G197D, G198D, G710D	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104694179.	NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu) GRCh37: Chr1:6027382 GRCh38: Chr1:5967322	NPHP4	P165L	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104615680.	NM_015102.5(NPHP4):c.1230G>T (p.Gln410His) GRCh37: Chr1:5993279 GRCh38: Chr1:5933219	NPHP4	Q410H	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis, Inborn genetic diseases	Uncertain significance (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 104130781.	NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met) GRCh37: Chr1:5927920 GRCh38: Chr1:5867860	NPHP4	V605M, V606M, V1118M	Inborn genetic diseases, Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104089182.	NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro) GRCh37: Chr1:6038466 GRCh38: Chr1:5978406	NPHP4	L48P	Nephronophthisis, Inborn genetic diseases, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Sep 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103892183.	NM_015102.5(NPHP4):c.2358_2360del (p.Val787del) GRCh37: Chr1:5947471-5947473 GRCh38: Chr1:5887411-5887413	NPHP4	V275del, V787del, V274del	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103546384.	NM_015102.5(NPHP4):c.2143+3G>T GRCh37: Chr1:5964674 GRCh38: Chr1:5904614	NPHP4		Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102664885.	NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys) GRCh37: Chr1:5925239 GRCh38: Chr1:5865179	NPHP4	R1247C, R734C, R735C	Senior-Loken syndrome 4, Nephronophthisis 4, Nephronophthisis	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102483886.	NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg) GRCh37: Chr1:6046241 GRCh38: Chr1:5986181	NPHP4	W37R	Inborn genetic diseases, Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101848987.	NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys) GRCh37: Chr1:5951014 GRCh38: Chr1:5890954	NPHP4	R227C, R228C, R740C	Nephronophthisis 4, Senior-Loken syndrome 4, Inborn genetic diseases, Nephronophthisis	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100831988.	NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu) GRCh37: Chr1:5927118 GRCh38: Chr1:5867058	NPHP4	P1177L, P664L, P665L	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100617489.	NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys) GRCh37: Chr1:5927093 GRCh38: Chr1:5867033	NPHP4	N1185K, N672K, N673K	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100531990.	NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met) GRCh37: Chr1:5923345 GRCh38: Chr1:5863285	NPHP4	V1421M, V908M, V909M	NPHP4-related condition, Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4	Uncertain significance (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100320391.	NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser) GRCh37: Chr1:5967275 GRCh38: Chr1:5907215	NPHP4	I504S	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100311192.	NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser) GRCh37: Chr1:5950995 GRCh38: Chr1:5890935	NPHP4	T233S, T234S, T746S	Nephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis	Uncertain significance (Dec 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99968693.	NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys) GRCh37: Chr1:5947517 GRCh38: Chr1:5887457	NPHP4	R259C, R260C, R772C	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97448594.	NM_015102.5(NPHP4):c.518-1G>C GRCh37: Chr1:6022010 GRCh38: Chr1:5961950	NPHP4		Nephronophthisis 4	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97448495.	NM_015102.5(NPHP4):c.517+1G>A GRCh37: Chr1:6027358 GRCh38: Chr1:5967298	NPHP4		Nephronophthisis 4	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97448396.	NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro) GRCh37: Chr1:5923975 GRCh38: Chr1:5863915	NPHP4	L1372P, L859P, L860P	Nephronophthisis 4	Likely pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97448297.	NM_015102.5(NPHP4):c.1956-2A>C GRCh37: Chr1:5964866 GRCh38: Chr1:5904806	NPHP4		Nephronophthisis 4	Pathogenic (Feb 1, 2020)	criteria provided, single submitter
Select item 97206398.	NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val) GRCh37: Chr1:5937200 GRCh38: Chr1:5877140	NPHP4	L924V, L412V, L411V	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97161999.	NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu) GRCh37: Chr1:5937158 GRCh38: Chr1:5877098	NPHP4	V425L, V426L, V938L	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 971187100.	NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly) GRCh37: Chr1:5937319 GRCh38: Chr1:5877259	NPHP4	D371G, D372G, D884G	Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4	Uncertain significance (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts

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