ClinVar for MedGen (Select 369409) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15207231.	NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) GRCh37: Chr16:4387425 GRCh38: Chr16:4337424	GLIS2	T492M	Inborn genetic diseases, Nephronophthisis, Nephronophthisis 7	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13678952.	NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) GRCh37: Chr16:4387079 GRCh38: Chr16:4337078	GLIS2	G377S	Nephronophthisis, Nephronophthisis 7	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12997033.	NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del) GRCh37: Chr16:4385098-4385112 GRCh38: Chr16:4335097-4335111	GLIS2		Nephronophthisis 7	Pathogenic (Oct 2, 2021)	no assertion criteria provided
Select item 10289644.	NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu) GRCh37: Chr16:4387194 GRCh38: Chr16:4337193	GLIS2	P415L	Nephronophthisis 7	Uncertain significance (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10252515.	NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) GRCh37: Chr16:4387509 GRCh38: Chr16:4337508	GLIS2	P520L	Nephronophthisis, Nephronophthisis 7	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9765216.	NM_032575.3(GLIS2):c.234C>G (p.Leu78=) GRCh37: Chr16:4383409 GRCh38: Chr16:4333408	GLIS2		not provided, Nephronophthisis 7	Likely benign (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8877947.	NM_032575.3(GLIS2):c.*1710C>A GRCh37: Chr16:4389235 GRCh38: Chr16:4339234	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8877938.	NM_032575.3(GLIS2):c.*1553G>A GRCh37: Chr16:4389078 GRCh38: Chr16:4339077	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8877339.	NM_032575.3(GLIS2):c.*516C>T GRCh37: Chr16:4388041 GRCh38: Chr16:4338040	GLIS2		Nephronophthisis 7	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88773210.	NM_032575.3(GLIS2):c.*204G>A GRCh37: Chr16:4387729 GRCh38: Chr16:4337728	GLIS2		Nephronophthisis 7	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 88773111.	NM_032575.3(GLIS2):c.*199G>A GRCh37: Chr16:4387724 GRCh38: Chr16:4337723	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88766812.	NM_032575.3(GLIS2):c.1040A>C (p.Tyr347Ser) GRCh37: Chr16:4386990 GRCh38: Chr16:4336989	GLIS2	Y347S	Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88766713.	NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) GRCh37: Chr16:4386983 GRCh38: Chr16:4336982	GLIS2	G345S	Nephronophthisis, Nephronophthisis 7	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88766614.	NM_032575.3(GLIS2):c.903C>T (p.His301=) GRCh37: Chr16:4386853 GRCh38: Chr16:4336852	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88747915.	NM_032575.3(GLIS2):c.801C>T (p.Tyr267=) GRCh37: Chr16:4386751 GRCh38: Chr16:4336750	GLIS2		Nephronophthisis 7	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 88747816.	NM_032575.3(GLIS2):c.546G>A (p.Leu182=) GRCh37: Chr16:4385084 GRCh38: Chr16:4335083	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88654717.	NM_032575.3(GLIS2):c.*1319A>G GRCh37: Chr16:4388844 GRCh38: Chr16:4338843	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88654618.	NM_032575.3(GLIS2):c.*1150C>T GRCh37: Chr16:4388675 GRCh38: Chr16:4338674	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88654519.	NM_032575.3(GLIS2):c.*1095G>A GRCh37: Chr16:4388620 GRCh38: Chr16:4338619	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88647720.	NM_032575.3(GLIS2):c.*125G>A GRCh37: Chr16:4387650 GRCh38: Chr16:4337649	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88552021.	NM_032575.3(GLIS2):c.*902C>T GRCh37: Chr16:4388427 GRCh38: Chr16:4338426	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88551922.	NM_032575.3(GLIS2):c.*874C>G GRCh37: Chr16:4388399 GRCh38: Chr16:4338398	GLIS2		Nephronophthisis 7	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88551823.	NM_032575.3(GLIS2):c.*849G>C GRCh37: Chr16:4388374 GRCh38: Chr16:4338373	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88545724.	NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly) GRCh37: Chr16:4387476 GRCh38: Chr16:4337475	GLIS2	V509G	Nephronophthisis 7	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88545625.	NM_032575.3(GLIS2):c.1510T>C (p.Leu504=) GRCh37: Chr16:4387460 GRCh38: Chr16:4337459	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88538926.	NM_032575.3(GLIS2):c.523-9C>T GRCh37: Chr16:4385052 GRCh38: Chr16:4335051	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88538827.	NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg) GRCh37: Chr16:4384935 GRCh38: Chr16:4334934	GLIS2	P160R	Inborn genetic diseases, Nephronophthisis 7	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88538728.	NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) GRCh37: Chr16:4384932 GRCh38: Chr16:4334931	GLIS2	S159L	Nephronophthisis 7, Nephronophthisis, Inborn genetic diseases	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88538629.	NM_032575.3(GLIS2):c.346-4C>G GRCh37: Chr16:4384798 GRCh38: Chr16:4334797	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88464930.	NM_032575.3(GLIS2):c.*2058G>A GRCh37: Chr16:4389583 GRCh38: Chr16:4339582	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88464831.	NM_032575.3(GLIS2):c.*2021C>T GRCh37: Chr16:4389546 GRCh38: Chr16:4339545	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88464732.	NM_032575.3(GLIS2):c.*1998C>G GRCh37: Chr16:4389523 GRCh38: Chr16:4339522	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88464633.	NM_032575.3(GLIS2):c.*1931C>G GRCh37: Chr16:4389456 GRCh38: Chr16:4339455	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88464534.	NM_032575.3(GLIS2):c.*1911G>C GRCh37: Chr16:4389436 GRCh38: Chr16:4339435	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88458835.	NM_032575.3(GLIS2):c.*757G>A GRCh37: Chr16:4388282 GRCh38: Chr16:4338281	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88458736.	NM_032575.3(GLIS2):c.*663C>G GRCh37: Chr16:4388188 GRCh38: Chr16:4338187	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88452137.	NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) GRCh37: Chr16:4387206 GRCh38: Chr16:4337205	GLIS2	S419L	Nephronophthisis, Nephronophthisis 7	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88452038.	NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) GRCh37: Chr16:4387127 GRCh38: Chr16:4337126	GLIS2	G393R	Nephronophthisis 7, Nephronophthisis	Uncertain significance (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88445739.	NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) GRCh37: Chr16:4382337 GRCh38: Chr16:4332336	GLIS2	A19V	Nephronophthisis 7, Nephronophthisis	Uncertain significance (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86025840.	NM_032575.3(GLIS2):c.995G>A (p.Arg332His) GRCh37: Chr16:4386945 GRCh38: Chr16:4336944	GLIS2	R332H	Nephronophthisis, Nephronophthisis 7	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69709541.	NM_032575.3(GLIS2):c.477G>A (p.Ser159=) GRCh37: Chr16:4384933 GRCh38: Chr16:4334932	GLIS2		Nephronophthisis, Nephronophthisis 7	Benign/Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69705942.	NM_032575.3(GLIS2):c.849C>T (p.His283=) GRCh37: Chr16:4386799 GRCh38: Chr16:4336798	GLIS2		Nephronophthisis 7, Nephronophthisis	Benign/Likely benign (Oct 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69700243.	NM_032575.3(GLIS2):c.1284G>A (p.Leu428=) GRCh37: Chr16:4387234 GRCh38: Chr16:4337233	GLIS2		Nephronophthisis 7, not provided	Likely benign (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69677544.	NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) GRCh37: Chr16:4386739 GRCh38: Chr16:4336738	GLIS2		Kidney disorder, Nephronophthisis, Nephronophthisis 7	Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64068845.	NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) GRCh37: Chr16:4387338 GRCh38: Chr16:4337337	GLIS2	T463M	Nephronophthisis, Nephronophthisis 7	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59680546.	NM_032575.3(GLIS2):c.1560G>A (p.Pro520=) GRCh37: Chr16:4387510 GRCh38: Chr16:4337509	GLIS2		not provided, Nephronophthisis 7	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56817847.	NM_032575.3(GLIS2):c.101G>A (p.Arg34His) GRCh37: Chr16:4382382 GRCh38: Chr16:4332381	GLIS2	R34H	Nephronophthisis 7, Nephronophthisis	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53162748.	NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) GRCh37: Chr16:4387223 GRCh38: Chr16:4337222	GLIS2	G425R	Nephronophthisis 7, Nephronophthisis	Uncertain significance (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 46272049.	NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) GRCh37: Chr16:4387414 GRCh38: Chr16:4337413	GLIS2		Kidney disorder, Nephronophthisis, Nephronophthisis 7	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41661150.	NM_032575.3(GLIS2):c.627C>T (p.Cys209=) GRCh37: Chr16:4385165 GRCh38: Chr16:4335164	GLIS2		not provided, Nephronophthisis 7	Likely benign (Oct 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31926551.	NM_032575.3(GLIS2):c.*1988A>G GRCh37: Chr16:4389513 GRCh38: Chr16:4339512	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31926452.	NM_032575.3(GLIS2):c.*1830C>T GRCh37: Chr16:4389355 GRCh38: Chr16:4339354	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31926353.	NM_032575.3(GLIS2):c.*1826C>T GRCh37: Chr16:4389351 GRCh38: Chr16:4339350	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31926254.	NM_032575.3(GLIS2):c.*1791T>C GRCh37: Chr16:4389316 GRCh38: Chr16:4339315	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31926155.	NM_032575.3(GLIS2):c.*1761C>T GRCh37: Chr16:4389286 GRCh38: Chr16:4339285	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31926056.	NM_032575.3(GLIS2):c.*1700G>A GRCh37: Chr16:4389225 GRCh38: Chr16:4339224	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31925957.	NM_032575.3(GLIS2):c.*1628C>G GRCh37: Chr16:4389153 GRCh38: Chr16:4339152	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31925758.	NM_032575.3(GLIS2):c.*1465G>A GRCh37: Chr16:4388990 GRCh38: Chr16:4338989	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31925659.	NM_032575.3(GLIS2):c.*1333C>G GRCh37: Chr16:4388858 GRCh38: Chr16:4338857	GLIS2		Nephronophthisis 7	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31925560.	NM_032575.3(GLIS2):c.*1203C>G GRCh37: Chr16:4388728 GRCh38: Chr16:4338727	GLIS2		Nephronophthisis 7, Kidney disorder	Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31925461.	NM_032575.3(GLIS2):c.*1176C>T GRCh37: Chr16:4388701 GRCh38: Chr16:4338700	GLIS2		Nephronophthisis 7	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31925362.	NM_032575.3(GLIS2):c.*1161G>A GRCh37: Chr16:4388686 GRCh38: Chr16:4338685	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31925263.	NM_032575.3(GLIS2):c.*1130G>A GRCh37: Chr16:4388655 GRCh38: Chr16:4338654	GLIS2		Nephronophthisis 7	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31925164.	NM_032575.3(GLIS2):c.*1082G>A GRCh37: Chr16:4388607 GRCh38: Chr16:4338606	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31925065.	NM_032575.3(GLIS2):c.*1046G>C GRCh37: Chr16:4388571 GRCh38: Chr16:4338570	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31924966.	NM_032575.3(GLIS2):c.*916G>A GRCh37: Chr16:4388441 GRCh38: Chr16:4338440	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31924767.	NM_032575.3(GLIS2):c.*881C>T GRCh37: Chr16:4388406 GRCh38: Chr16:4338405	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31924668.	NM_032575.3(GLIS2):c.*856C>T GRCh37: Chr16:4388381 GRCh38: Chr16:4338380	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31924569.	NM_032575.3(GLIS2):c.*796G>C GRCh37: Chr16:4388321 GRCh38: Chr16:4338320	GLIS2		Nephronophthisis 7	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31924470.	NM_032575.3(GLIS2):c.*762C>T GRCh37: Chr16:4388287 GRCh38: Chr16:4338286	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31924371.	NM_032575.3(GLIS2):c.*712C>G GRCh37: Chr16:4388237 GRCh38: Chr16:4338236	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31924272.	NM_032575.3(GLIS2):c.*632G>A GRCh37: Chr16:4388157 GRCh38: Chr16:4338156	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31924173.	NM_032575.3(GLIS2):c.*614G>A GRCh37: Chr16:4388139 GRCh38: Chr16:4338138	GLIS2		Nephronophthisis 7	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31924074.	NM_032575.3(GLIS2):c.*611G>A GRCh37: Chr16:4388136 GRCh38: Chr16:4338135	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31923975.	NM_032575.3(GLIS2):c.*551C>G GRCh37: Chr16:4388076 GRCh38: Chr16:4338075	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31923876.	NM_032575.3(GLIS2):c.*525C>T GRCh37: Chr16:4388050 GRCh38: Chr16:4338049	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31923777.	NM_032575.3(GLIS2):c.*437A>C GRCh37: Chr16:4387962 GRCh38: Chr16:4337961	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31923678.	NM_032575.3(GLIS2):c.*399T>G GRCh37: Chr16:4387924 GRCh38: Chr16:4337923	GLIS2		Nephronophthisis 7	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31923479.	NM_032575.3(GLIS2):c.*278C>T GRCh37: Chr16:4387803 GRCh38: Chr16:4337802	GLIS2		Nephronophthisis 7	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31923380.	NM_032575.3(GLIS2):c.*232T>G GRCh37: Chr16:4387757 GRCh38: Chr16:4337756	GLIS2		Nephronophthisis 7, not provided	Benign/Likely benign (Oct 7, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31923281.	NM_032575.3(GLIS2):c.*173G>A GRCh37: Chr16:4387698 GRCh38: Chr16:4337697	GLIS2		not provided, Nephronophthisis 7	Benign (Oct 7, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31923182.	NM_032575.3(GLIS2):c.*54C>T GRCh37: Chr16:4387579 GRCh38: Chr16:4337578	GLIS2		Nephronophthisis 7	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31923083.	NM_032575.3(GLIS2):c.*43G>A GRCh37: Chr16:4387568 GRCh38: Chr16:4337567	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31922984.	NM_032575.3(GLIS2):c.*23G>A GRCh37: Chr16:4387548 GRCh38: Chr16:4337547	GLIS2		Nephronophthisis 7	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31922885.	NM_032575.3(GLIS2):c.*12G>A GRCh37: Chr16:4387537 GRCh38: Chr16:4337536	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31922786.	NM_032575.3(GLIS2):c.*2C>T GRCh37: Chr16:4387527 GRCh38: Chr16:4337526	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31922687.	NM_032575.3(GLIS2):c.1569G>A (p.Val523=) GRCh37: Chr16:4387519 GRCh38: Chr16:4337518	GLIS2		Nephronophthisis, Nephronophthisis 7	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 31922588.	NM_032575.3(GLIS2):c.1476G>A (p.Thr492=) GRCh37: Chr16:4387426 GRCh38: Chr16:4337425	GLIS2		Nephronophthisis, not provided, Nephronophthisis 7	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31922489.	NM_032575.3(GLIS2):c.1431C>T (p.Pro477=) GRCh37: Chr16:4387381 GRCh38: Chr16:4337380	GLIS2		Nephronophthisis, Nephronophthisis 7	Conflicting interpretations of pathogenicity (Jun 7, 2022)	criteria provided, conflicting interpretations
Select item 31922390.	NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg) GRCh37: Chr16:4387363 GRCh38: Chr16:4337362	GLIS2	S471R	Nephronophthisis 7, Nephronophthisis	Likely benign (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31922291.	NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met) GRCh37: Chr16:4387353 GRCh38: Chr16:4337352	GLIS2	T468M	not provided, Nephronophthisis 7	Uncertain significance (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31922192.	NM_032575.3(GLIS2):c.1355C>A (p.Pro452His) GRCh37: Chr16:4387305 GRCh38: Chr16:4337304	GLIS2	P452H	Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31922093.	NM_032575.3(GLIS2):c.1350G>A (p.Ser450=) GRCh37: Chr16:4387300 GRCh38: Chr16:4337299	GLIS2		Nephronophthisis, Nephronophthisis 7	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31921994.	NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp) GRCh37: Chr16:4387285 GRCh38: Chr16:4337284	GLIS2	E445D	Nephronophthisis 7	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31921895.	NM_032575.3(GLIS2):c.1326C>T (p.Ala442=) GRCh37: Chr16:4387276 GRCh38: Chr16:4337275	GLIS2		Nephronophthisis 7, not provided	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 31921796.	NM_032575.3(GLIS2):c.1128C>T (p.Pro376=) GRCh37: Chr16:4387078 GRCh38: Chr16:4337077	GLIS2		Nephronophthisis, Nephronophthisis 7	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 31921697.	NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) GRCh37: Chr16:4386961 GRCh38: Chr16:4336960	GLIS2		Nephronophthisis, Nephronophthisis 7, Kidney disorder, not provided	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31921598.	NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu) GRCh37: Chr16:4386960 GRCh38: Chr16:4336959	GLIS2	P337L	Nephronophthisis, not provided, Nephronophthisis 7	Benign/Likely benign (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 31921499.	NM_032575.3(GLIS2):c.747C>T (p.Asn249=) GRCh37: Chr16:4385366 GRCh38: Chr16:4335365	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 319213100.	NM_032575.3(GLIS2):c.651C>T (p.Asn217=) GRCh37: Chr16:4385189 GRCh38: Chr16:4335188	GLIS2		Nephronophthisis 7	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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