ClinVar for MedGen (Select 462538) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24284771.	NM_178170.3(NEK8):c.1931G>A (p.Arg644Gln) GRCh37: Chr17:27068470 GRCh38: Chr17:28741452	NEK8	R644Q	Nephronophthisis 9	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 24193182.	NM_178170.3(NEK8):c.1593C>T (p.His531=) GRCh37: Chr17:27067864 GRCh38: Chr17:28740846	LOC130060573, NEK8		Nephronophthisis 9	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 24183393.	NM_178170.3(NEK8):c.287G>T (p.Cys96Phe) GRCh37: Chr17:27061823 GRCh38: Chr17:28734805	NEK8	C96F	Nephronophthisis 9	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 24146354.	NM_178170.3(NEK8):c.1049C>T (p.Ser350Phe) GRCh37: Chr17:27064996 GRCh38: Chr17:28737978	NEK8	S350F	Nephronophthisis 9	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 21944255.	NM_178170.3(NEK8):c.1044G>A (p.Thr348=) GRCh37: Chr17:27064991 GRCh38: Chr17:28737973	NEK8		Nephronophthisis 9	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 21943546.	NM_178170.3(NEK8):c.1891+9_1891+10del GRCh37: Chr17:27068263-27068264 GRCh38: Chr17:28741245-28741246	LOC130060574, NEK8		Nephronophthisis 9	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 21943427.	NM_178170.3(NEK8):c.284G>A (p.Arg95His) GRCh37: Chr17:27061820 GRCh38: Chr17:28734802	NEK8	R95H	Nephronophthisis 9	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 21939768.	NM_178170.3(NEK8):c.1454G>A (p.Cys485Tyr) GRCh37: Chr17:27067517 GRCh38: Chr17:28740499	NEK8	C485Y	Nephronophthisis 9	Uncertain significance (Dec 26, 2021)	criteria provided, single submitter
Select item 21855579.	NM_178170.3(NEK8):c.1732+13T>G GRCh37: Chr17:27068016 GRCh38: Chr17:28740998	NEK8		Nephronophthisis 9	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 216782810.	NM_178170.3(NEK8):c.478G>T (p.Ala160Ser) GRCh37: Chr17:27062014 GRCh38: Chr17:28734996	NEK8	A160S	Nephronophthisis 9	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 214849011.	NM_178170.3(NEK8):c.47+17G>A GRCh37: Chr17:27055895 GRCh38: Chr17:28728877	NEK8		Nephronophthisis 9	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 214717012.	NM_178170.3(NEK8):c.312C>A (p.Thr104=) GRCh37: Chr17:27061848 GRCh38: Chr17:28734830	NEK8		Nephronophthisis 9	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 214374313.	NM_178170.3(NEK8):c.1086T>A (p.Gly362=) GRCh37: Chr17:27065127 GRCh38: Chr17:28738109	NEK8		Nephronophthisis 9	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 214215514.	NM_178170.3(NEK8):c.1701C>T (p.Asp567=) GRCh37: Chr17:27067972 GRCh38: Chr17:28740954	NEK8		Nephronophthisis 9	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 214185515.	NM_178170.3(NEK8):c.1084G>C (p.Gly362Arg) GRCh37: Chr17:27065125 GRCh38: Chr17:28738107	NEK8	G362R	Nephronophthisis 9	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 212095116.	NM_178170.3(NEK8):c.906T>C (p.Pro302=) GRCh37: Chr17:27064853 GRCh38: Chr17:28737835	NEK8		Nephronophthisis 9	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 211168417.	NM_178170.3(NEK8):c.1222+11G>C GRCh37: Chr17:27065274 GRCh38: Chr17:28738256	LOC130060569, NEK8		Nephronophthisis 9	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 209330818.	NM_178170.3(NEK8):c.1892-20C>T GRCh37: Chr17:27068411 GRCh38: Chr17:28741393	NEK8		Nephronophthisis 9	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 208633419.	NM_178170.3(NEK8):c.768C>G (p.Pro256=) GRCh37: Chr17:27064473 GRCh38: Chr17:28737455	NEK8		Nephronophthisis 9	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 208307920.	NM_178170.3(NEK8):c.328G>A (p.Val110Met) GRCh37: Chr17:27061864 GRCh38: Chr17:28734846	NEK8	V110M	Nephronophthisis 9	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 207499921.	NM_178170.3(NEK8):c.1923G>A (p.Ala641=) GRCh37: Chr17:27068462 GRCh38: Chr17:28741444	NEK8		Nephronophthisis 9	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 207499822.	NM_178170.3(NEK8):c.486+11A>G GRCh37: Chr17:27062033 GRCh38: Chr17:28735015	NEK8, LOC130060567		Nephronophthisis 9	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 207265623.	NM_178170.3(NEK8):c.1496G>A (p.Arg499Gln) GRCh37: Chr17:27067559 GRCh38: Chr17:28740541	NEK8	R499Q	Nephronophthisis 9	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 206999524.	NM_178170.3(NEK8):c.1568+14C>T GRCh37: Chr17:27067645 GRCh38: Chr17:28740627	NEK8		Nephronophthisis 9	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 206896025.	NM_178170.3(NEK8):c.1316C>T (p.Ala439Val) GRCh37: Chr17:27066118 GRCh38: Chr17:28739100	NEK8	A439V	Nephronophthisis 9	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 206721526.	NM_178170.3(NEK8):c.234C>T (p.Ile78=) GRCh37: Chr17:27061187 GRCh38: Chr17:28734169	NEK8		Nephronophthisis 9	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 206500627.	NM_178170.3(NEK8):c.1696A>G (p.Ile566Val) GRCh37: Chr17:27067967 GRCh38: Chr17:28740949	NEK8	I566V	Nephronophthisis 9	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 206395128.	NM_178170.3(NEK8):c.1072-16C>A GRCh37: Chr17:27065097 GRCh38: Chr17:28738079	NEK8		Nephronophthisis 9	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 206266329.	NM_178170.3(NEK8):c.988C>T (p.Leu330Phe) GRCh37: Chr17:27064935 GRCh38: Chr17:28737917	NEK8	L330F	Nephronophthisis 9	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 206065230.	NM_178170.3(NEK8):c.1439G>C (p.Arg480Thr) GRCh37: Chr17:27067502 GRCh38: Chr17:28740484	NEK8	R480T	Nephronophthisis 9	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 205841831.	NM_178170.3(NEK8):c.1928G>A (p.Gly643Asp) GRCh37: Chr17:27068467 GRCh38: Chr17:28741449	NEK8	G643D	Nephronophthisis 9	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 205348932.	NM_178170.3(NEK8):c.1924C>T (p.Arg642Ter) GRCh37: Chr17:27068463 GRCh38: Chr17:28741445	NEK8	R642*	Nephronophthisis 9	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 204673533.	NM_178170.3(NEK8):c.248C>T (p.Ala83Val) GRCh37: Chr17:27061201 GRCh38: Chr17:28734183	NEK8	A83V	Nephronophthisis 9	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 204252734.	NM_178170.3(NEK8):c.300G>A (p.Leu100=) GRCh37: Chr17:27061836 GRCh38: Chr17:28734818	NEK8		Nephronophthisis 9	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 204111235.	NM_178170.3(NEK8):c.779G>A (p.Arg260His) GRCh37: Chr17:27064484 GRCh38: Chr17:28737466	NEK8	R260H	Nephronophthisis 9, Inborn genetic diseases	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204097836.	NM_178170.3(NEK8):c.886A>G (p.Arg296Gly) GRCh37: Chr17:27064751 GRCh38: Chr17:28737733	NEK8	R296G	Nephronophthisis 9	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 204007837.	NM_178170.3(NEK8):c.198C>T (p.Tyr66=) GRCh37: Chr17:27061151 GRCh38: Chr17:28734133	NEK8		Nephronophthisis 9	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 203866138.	NM_178170.3(NEK8):c.650G>C (p.Ser217Thr) GRCh37: Chr17:27064355 GRCh38: Chr17:28737337	NEK8	S217T	Nephronophthisis 9	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 203813639.	NM_178170.3(NEK8):c.2075C>G (p.Pro692Arg) GRCh37: Chr17:27069001 GRCh38: Chr17:28741983	NEK8	P692R	Nephronophthisis 9	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 197237040.	NM_178170.3(NEK8):c.255C>T (p.Gly85=) GRCh37: Chr17:27061791 GRCh38: Chr17:28734773	NEK8		Nephronophthisis 9	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 196225541.	NM_178170.3(NEK8):c.841G>A (p.Val281Met) GRCh37: Chr17:27064706 GRCh38: Chr17:28737688	NEK8	V281M	Nephronophthisis 9	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 196098442.	NM_178170.3(NEK8):c.609C>T (p.Phe203=) GRCh37: Chr17:27062380 GRCh38: Chr17:28735362	NEK8		Nephronophthisis 9	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 194950143.	NM_178170.3(NEK8):c.1204T>C (p.Phe402Leu) GRCh37: Chr17:27065245 GRCh38: Chr17:28738227	NEK8	F402L	Nephronophthisis 9	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 191627044.	NM_178170.3(NEK8):c.1710T>C (p.Thr570=) GRCh37: Chr17:27067981 GRCh38: Chr17:28740963	NEK8		Nephronophthisis 9	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 191549245.	NM_178170.3(NEK8):c.1071+17G>T GRCh37: Chr17:27065035 GRCh38: Chr17:28738017	NEK8		Nephronophthisis 9	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 190440446.	NM_178170.3(NEK8):c.1965T>G (p.Pro655=) GRCh37: Chr17:27068504 GRCh38: Chr17:28741486	NEK8		Nephronophthisis 9	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 189696747.	NM_178170.3(NEK8):c.1411G>A (p.Asp471Asn) GRCh37: Chr17:27066213 GRCh38: Chr17:28739195	NEK8	D471N	Nephronophthisis 9	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 164059348.	NM_178170.3(NEK8):c.1071+13G>C GRCh37: Chr17:27065031 GRCh38: Chr17:28738013	NEK8		Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9, Nephronophthisis 9	Likely benign (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162379649.	NM_178170.3(NEK8):c.984A>G (p.Pro328=) GRCh37: Chr17:27064931 GRCh38: Chr17:28737913	NEK8		Nephronophthisis 9	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 161900150.	NM_178170.3(NEK8):c.1035C>T (p.Ala345=) GRCh37: Chr17:27064982 GRCh38: Chr17:28737964	NEK8		Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161013851.	NM_178170.3(NEK8):c.385C>T (p.Leu129Phe) GRCh37: Chr17:27061921 GRCh38: Chr17:28734903	NEK8	L129F	Nephronophthisis 9	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 160624852.	NM_178170.3(NEK8):c.827+20G>A GRCh37: Chr17:27064552 GRCh38: Chr17:28737534	NEK8		Nephronophthisis 9	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 158837353.	NM_178170.3(NEK8):c.889+17C>T GRCh37: Chr17:27064771 GRCh38: Chr17:28737753	NEK8		Nephronophthisis 9, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157864754.	NM_178170.3(NEK8):c.1732+19C>A GRCh37: Chr17:27068022 GRCh38: Chr17:28741004	NEK8		Nephronophthisis 9	Benign (Jul 11, 2022)	criteria provided, single submitter
Select item 157039655.	NM_178170.3(NEK8):c.1773A>G (p.Gly591=) GRCh37: Chr17:27068136 GRCh38: Chr17:28741118	NEK8		Nephronophthisis 9	Likely benign (Oct 15, 2021)	criteria provided, single submitter
Select item 155884356.	NM_178170.3(NEK8):c.889+18G>A GRCh37: Chr17:27064772 GRCh38: Chr17:28737754	NEK8		Nephronophthisis 9, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148057557.	NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu) GRCh37: Chr17:27068099 GRCh38: Chr17:28741081	NEK8	S579L	Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9, Nephronophthisis 9, Inborn genetic diseases	Uncertain significance (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147835658.	NM_178170.3(NEK8):c.1045C>T (p.Arg349Cys) GRCh37: Chr17:27064992 GRCh38: Chr17:28737974	NEK8	R349C	Nephronophthisis 9	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 147226459.	NM_178170.3(NEK8):c.269A>G (p.Glu90Gly) GRCh37: Chr17:27061805 GRCh38: Chr17:28734787	NEK8	E90G	Nephronophthisis 9, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146810260.	NM_178170.3(NEK8):c.186T>A (p.Asn62Lys) GRCh37: Chr17:27061139 GRCh38: Chr17:28734121	NEK8	N62K	Nephronophthisis 9	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 145078661.	NM_178170.3(NEK8):c.2050+3G>A GRCh37: Chr17:27068592 GRCh38: Chr17:28741574	NEK8		Nephronophthisis 9	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 144652762.	NM_178170.3(NEK8):c.437G>T (p.Gly146Val) GRCh37: Chr17:27061973 GRCh38: Chr17:28734955	NEK8	G146V	Nephronophthisis 9	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 143672463.	NM_178170.3(NEK8):c.857C>G (p.Thr286Arg) GRCh37: Chr17:27064722 GRCh38: Chr17:28737704	NEK8	T286R	Inborn genetic diseases, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9, Nephronophthisis 9	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143030664.	NM_178170.3(NEK8):c.1359_1360del (p.His454fs) GRCh37: Chr17:27066158-27066159 GRCh38: Chr17:28739140-28739141	NEK8	H454fs	Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9	Pathogenic/Likely pathogenic (Dec 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142631365.	NM_178170.3(NEK8):c.882_885del (p.Cys295fs) GRCh37: Chr17:27064747-27064750 GRCh38: Chr17:28737729-28737732	NEK8	C295fs	Nephronophthisis 9	Pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 141341666.	NM_178170.3(NEK8):c.1997dup (p.Tyr666Ter) GRCh37: Chr17:27068535-27068536 GRCh38: Chr17:28741517-28741518	NEK8	Y666*	Nephronophthisis 9	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 140364467.	NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser) GRCh37: Chr17:27065119 GRCh38: Chr17:28738101	NEK8	P360S	Nephronophthisis 9, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2	Uncertain significance (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 136678868.	NM_178170.3(NEK8):c.2066C>T (p.Pro689Leu) GRCh37: Chr17:27068992 GRCh38: Chr17:28741974	NEK8	P689L	Nephronophthisis 9	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 135434969.	NM_178170.3(NEK8):c.1158G>A (p.Glu386=) GRCh37: Chr17:27065199 GRCh38: Chr17:28738181	NEK8		Nephronophthisis 9	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 116492570.	NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro) GRCh37: Chr17:27067552 GRCh38: Chr17:28740534	NEK8	A497P	Nephronophthisis 9	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 116010371.	NM_178170.3(NEK8):c.1092C>T (p.Gly364=) GRCh37: Chr17:27065133 GRCh38: Chr17:28738115	NEK8		Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9	Likely benign (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115636772.	NM_178170.3(NEK8):c.579C>T (p.Leu193=) GRCh37: Chr17:27062350 GRCh38: Chr17:28735332	NEK8		Nephronophthisis 9	Likely benign (May 6, 2020)	criteria provided, single submitter
Select item 114939773.	NM_178170.3(NEK8):c.444C>T (p.Phe148=) GRCh37: Chr17:27061980 GRCh38: Chr17:28734962	NEK8		Nephronophthisis 9	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 111197674.	NM_178170.3(NEK8):c.2073C>G (p.Pro691=) GRCh37: Chr17:27068999 GRCh38: Chr17:28741981	NEK8		Nephronophthisis 9	Likely benign (Oct 14, 2019)	criteria provided, single submitter
Select item 110077075.	NM_178170.3(NEK8):c.1956C>A (p.Ala652=) GRCh37: Chr17:27068495 GRCh38: Chr17:28741477	NEK8		Nephronophthisis 9	Likely benign (Apr 19, 2019)	criteria provided, single submitter
Select item 109942376.	NM_178170.3(NEK8):c.1485G>A (p.Gln495=) GRCh37: Chr17:27067548 GRCh38: Chr17:28740530	NEK8		Nephronophthisis 9	Likely benign (Sep 6, 2019)	criteria provided, single submitter
Select item 103667477.	NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg) GRCh37: Chr17:27068134 GRCh38: Chr17:28741116	NEK8	G591R	Nephronophthisis 9	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103666278.	NM_178170.3(NEK8):c.907G>A (p.Val303Met) GRCh37: Chr17:27064854 GRCh38: Chr17:28737836	NEK8	V303M	Nephronophthisis 9	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 103175479.	NM_178170.3(NEK8):c.972C>G (p.Pro324=) GRCh37: Chr17:27064919 GRCh38: Chr17:28737901	NEK8		Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9	Conflicting interpretations of pathogenicity (May 3, 2022)	criteria provided, conflicting interpretations
Select item 103130580.	NM_178170.3(NEK8):c.506A>G (p.Tyr169Cys) GRCh37: Chr17:27062277 GRCh38: Chr17:28735259	NEK8	Y169C	Nephronophthisis 9	Uncertain significance (Dec 6, 2019)	criteria provided, single submitter
Select item 102693481.	NM_178170.3(NEK8):c.2000C>T (p.Thr667Met) GRCh37: Chr17:27068539 GRCh38: Chr17:28741521	NEK8	T667M	Inborn genetic diseases, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101065982.	NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu) GRCh37: Chr17:27068998 GRCh38: Chr17:28741980	NEK8	P691L	Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9, Inborn genetic diseases	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100874383.	NM_178170.3(NEK8):c.673G>C (p.Asp225His) GRCh37: Chr17:27064378 GRCh38: Chr17:28737360	NEK8	D225H	Nephronophthisis 9	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 100417484.	NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) GRCh37: Chr17:27069003 GRCh38: Chr17:28741985	NEK8		Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100264685.	NM_178170.3(NEK8):c.1523T>A (p.Met508Lys) GRCh37: Chr17:27067586 GRCh38: Chr17:28740568	NEK8	M508K	Nephronophthisis 9	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 97169186.	NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) GRCh37: Chr17:27065207 GRCh38: Chr17:28738189	NEK8	S389L	Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96944987.	NM_178170.3(NEK8):c.737G>A (p.Arg246Gln) GRCh37: Chr17:27064442 GRCh38: Chr17:28737424	NEK8	R246Q	Nephronophthisis 9	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 96593288.	NM_178170.3(NEK8):c.881G>A (p.Arg294His) GRCh37: Chr17:27064746 GRCh38: Chr17:28737728	NEK8	R294H	Inborn genetic diseases, not provided, Nephronophthisis 9	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96545589.	NM_178170.3(NEK8):c.1406G>A (p.Arg469His) GRCh37: Chr17:27066208 GRCh38: Chr17:28739190	NEK8	R469H	Nephronophthisis 9	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 95128490.	NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln) GRCh37: Chr17:27068454 GRCh38: Chr17:28741436	NEK8	K639Q	Nephronophthisis 9	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 94693091.	NM_178170.3(NEK8):c.1177A>G (p.Ile393Val) GRCh37: Chr17:27065218 GRCh38: Chr17:28738200	NEK8	I393V	Nephronophthisis 9	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94302592.	NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) GRCh37: Chr17:27055853 GRCh38: Chr17:28728835	NEK8	R8G	Nephronophthisis 9, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89250193.	NM_178170.3(NEK8):c.*574A>C GRCh37: Chr17:27069579 GRCh38: Chr17:28742561	NEK8		Nephronophthisis 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89250094.	NM_178170.3(NEK8):c.*526A>G GRCh37: Chr17:27069531 GRCh38: Chr17:28742513	NEK8		Nephronophthisis 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89249995.	NM_178170.3(NEK8):c.*523C>T GRCh37: Chr17:27069528 GRCh38: Chr17:28742510	NEK8		Nephronophthisis 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89249896.	NM_178170.3(NEK8):c.*474G>A GRCh37: Chr17:27069479 GRCh38: Chr17:28742461	NEK8		Nephronophthisis 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89244897.	NM_178170.3(NEK8):c.1300-13C>A GRCh37: Chr17:27066089 GRCh38: Chr17:28739071	NEK8		Nephronophthisis 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89244798.	NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser) GRCh37: Chr17:27065718 GRCh38: Chr17:28738700	NEK8	G418S	Inborn genetic diseases, Nephronophthisis 9, Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2	Uncertain significance (Mar 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89244699.	NM_178170.3(NEK8):c.1232T>A (p.Ile411Asn) GRCh37: Chr17:27065698 GRCh38: Chr17:28738680	NEK8	I411N	Nephronophthisis 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 891304100.	NM_178170.3(NEK8):c.*382G>A GRCh37: Chr17:27069387 GRCh38: Chr17:28742369	NEK8		Nephronophthisis 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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