ClinVar for MedGen (Select 120640) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16787541.	NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) GRCh37: Chr3:190126207 GRCh38: Chr3:190408418	CLDN16	G163C	not provided, Primary hypomagnesemia	Likely pathogenic (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14060912.	NM_006580.4(CLDN16):c.562T>C (p.Tyr188His) GRCh37: Chr3:190126282 GRCh38: Chr3:190408493	CLDN16	Y188H	Primary hypomagnesemia, Inborn genetic diseases, not provided	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13398603.	NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly) GRCh37: Chr3:190120159 GRCh38: Chr3:190402370	CLDN16	C50G	Primary hypomagnesemia	not provided	no assertion provided
Select item 13398594.	GRCh37/hg19 3q28(chr3:190114218-190144769)x1 GRCh37: Chr3:190114218-190144769	CLDN16		Primary hypomagnesemia	not provided	no assertion provided
Select item 13240895.	NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr) GRCh37: Chr3:190126214 GRCh38: Chr3:190408425	CLDN16	S165Y	Primary hypomagnesemia	Likely pathogenic (May 14, 2021)	criteria provided, single submitter
Select item 13016886.	NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile) GRCh37: Chr3:190126186 GRCh38: Chr3:190408397	CLDN16	L156I	Primary hypomagnesemia	Uncertain significance (Nov 1, 2020)	criteria provided, single submitter
Select item 12026387.	NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) GRCh37: Chr3:190106221 GRCh38: Chr3:190388432	CLDN16	D35N	Primary hypomagnesemia	Likely pathogenic	criteria provided, single submitter
Select item 12026378.	NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) GRCh37: Chr3:190120148 GRCh38: Chr3:190402359	CLDN16	L46P	Primary hypomagnesemia	Likely pathogenic	criteria provided, single submitter
Select item 11994069.	NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln) GRCh37: Chr3:190122569 GRCh38: Chr3:190404780	CLDN16	R79Q	Primary hypomagnesemia	Pathogenic	no assertion criteria provided
Select item 102852410.	NM_006580.4(CLDN16):c.218-10G>A GRCh37: Chr3:190122541 GRCh38: Chr3:190404752	CLDN16		Primary hypomagnesemia	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 102852211.	NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) GRCh37: Chr3:190106120 GRCh38: Chr3:190388331	CLDN16	M1T	Primary hypomagnesemia	Pathogenic (Jun 9, 2020)	criteria provided, single submitter
Select item 98314412.	NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) GRCh37: Chr3:190122613-190122614 GRCh38: Chr3:190404824-190404825	CLDN16	T95fs	Primary hypomagnesemia	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97661613.	NM_006580.4(CLDN16):c.*868A>C GRCh37: Chr3:190128693 GRCh38: Chr3:190410904	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 97657914.	NM_006580.4(CLDN16):c.*1156G>A GRCh37: Chr3:190128981 GRCh38: Chr3:190411192	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 97657815.	NM_006580.4(CLDN16):c.*1145A>G GRCh37: Chr3:190128970 GRCh38: Chr3:190411181	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 97657716.	NM_006580.4(CLDN16):c.*1022G>A GRCh37: Chr3:190128847 GRCh38: Chr3:190411058	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 97442117.	NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) GRCh37: Chr3:190126178 GRCh38: Chr3:190408389	CLDN16	N153S	not provided, Primary hypomagnesemia, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 95722718.	NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro) GRCh37: Chr3:190106224 GRCh38: Chr3:190388435	CLDN16	S36P	not provided, Primary hypomagnesemia	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93289319.	NM_006580.4:c.(?_598)_(900_?)del	CLDN16		Primary hypomagnesemia	Pathogenic	no assertion criteria provided
Select item 90312720.	NM_006580.4(CLDN16):c.99T>C (p.Ala33=) GRCh37: Chr3:190106217 GRCh38: Chr3:190388428	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90312621.	NM_006580.4(CLDN16):c.22A>G (p.Ile8Val) GRCh37: Chr3:190106140 GRCh38: Chr3:190388351	CLDN16	I8V	Primary hypomagnesemia	Uncertain significance (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90239322.	NM_006580.4(CLDN16):c.*2014T>C GRCh37: Chr3:190129839 GRCh38: Chr3:190412050	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90239223.	NM_006580.4(CLDN16):c.*1952C>G GRCh37: Chr3:190129777 GRCh38: Chr3:190411988	CLDN16		Primary hypomagnesemia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90239124.	NM_006580.4(CLDN16):c.*1883T>G GRCh37: Chr3:190129708 GRCh38: Chr3:190411919	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90239025.	NM_006580.4(CLDN16):c.*1872C>A GRCh37: Chr3:190129697 GRCh38: Chr3:190411908	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90238926.	NM_006580.4(CLDN16):c.*1833G>A GRCh37: Chr3:190129658 GRCh38: Chr3:190411869	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90238827.	NM_006580.4(CLDN16):c.*1817T>C GRCh37: Chr3:190129642 GRCh38: Chr3:190411853	CLDN16		Primary hypomagnesemia	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90238728.	NM_006580.4(CLDN16):c.*1812A>G GRCh37: Chr3:190129637 GRCh38: Chr3:190411848	CLDN16		Primary hypomagnesemia	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90231829.	NM_006580.4(CLDN16):c.*769A>C GRCh37: Chr3:190128594 GRCh38: Chr3:190410805	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90231730.	NM_006580.4(CLDN16):c.*586G>T GRCh37: Chr3:190128411 GRCh38: Chr3:190410622	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90231631.	NM_006580.4(CLDN16):c.*541A>G GRCh37: Chr3:190128366 GRCh38: Chr3:190410577	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90231532.	NM_006580.4(CLDN16):c.*495A>T GRCh37: Chr3:190128320 GRCh38: Chr3:190410531	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90225133.	NM_006580.4(CLDN16):c.-116G>T GRCh37: Chr3:190106003 GRCh38: Chr3:190388214	CLDN16		not provided, Primary hypomagnesemia	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90225034.	NM_006580.4(CLDN16):c.-132G>A GRCh37: Chr3:190105987 GRCh38: Chr3:190388198	CLDN16		not provided, Primary hypomagnesemia	Uncertain significance (Nov 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90224935.	NM_006580.3(CLDN16):c.-41C>T GRCh37: Chr3:190105868 GRCh38: Chr3:190388079	CLDN16		Primary hypomagnesemia	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90224836.	NM_006580.3(CLDN16):c.-155C>T GRCh37: Chr3:190105754 GRCh38: Chr3:190387965	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90071037.	NM_006580.4(CLDN16):c.*1793G>C GRCh37: Chr3:190129618 GRCh38: Chr3:190411829	CLDN16		Primary hypomagnesemia	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 90070938.	NM_006580.4(CLDN16):c.*1552T>G GRCh37: Chr3:190129377 GRCh38: Chr3:190411588	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90063439.	NM_006580.4(CLDN16):c.*493T>C GRCh37: Chr3:190128318 GRCh38: Chr3:190410529	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90063340.	NM_006580.4(CLDN16):c.*299A>G GRCh37: Chr3:190128124 GRCh38: Chr3:190410335	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90063241.	NM_006580.4(CLDN16):c.*181C>T GRCh37: Chr3:190128006 GRCh38: Chr3:190410217	CLDN16		Primary hypomagnesemia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90056242.	NM_006580.3(CLDN16):c.-206G>T GRCh37: Chr3:190105703 GRCh38: Chr3:190387914	CLDN16		Primary hypomagnesemia	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89956943.	NM_006580.4(CLDN16):c.*1427A>G GRCh37: Chr3:190129252 GRCh38: Chr3:190411463	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89956844.	NM_006580.4(CLDN16):c.*1234A>C GRCh37: Chr3:190129059 GRCh38: Chr3:190411270	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89950545.	NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr) GRCh37: Chr3:190127745 GRCh38: Chr3:190409956	CLDN16	A210T	Primary hypomagnesemia	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89950446.	NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys) GRCh37: Chr3:190127713 GRCh38: Chr3:190409924	CLDN16	Y199C	Primary hypomagnesemia	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89950347.	NM_006580.4(CLDN16):c.575-7C>T GRCh37: Chr3:190127685 GRCh38: Chr3:190409896	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89950248.	NM_006580.4(CLDN16):c.564T>C (p.Tyr188=) GRCh37: Chr3:190126284 GRCh38: Chr3:190408495	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89950149.	NM_006580.4(CLDN16):c.539G>C (p.Gly180Ala) GRCh37: Chr3:190126259 GRCh38: Chr3:190408470	CLDN16	G180A	not provided, Primary hypomagnesemia	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89950050.	NM_006580.4(CLDN16):c.192C>T (p.Tyr64=) GRCh37: Chr3:190120203 GRCh38: Chr3:190402414	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87266451.	NM_006580.4(CLDN16):c.437G>A (p.Arg146His) GRCh37: Chr3:190126157 GRCh38: Chr3:190408368	CLDN16	R146H	Primary hypomagnesemia, not provided	Pathogenic/Likely pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80203752.	NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) GRCh37: Chr3:190122715 GRCh38: Chr3:190404926	CLDN16	G128R	Primary hypomagnesemia	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 73480053.	NM_006580.4(CLDN16):c.532T>C (p.Leu178=) GRCh37: Chr3:190126252 GRCh38: Chr3:190408463	CLDN16		not provided, Primary hypomagnesemia	Benign/Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71426054.	NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp) GRCh37: Chr3:190127743 GRCh38: Chr3:190409954	CLDN16	A279D, A209D	not provided, Primary hypomagnesemia	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71309055.	NM_006580.4(CLDN16):c.165T>C (p.Phe55=) GRCh37: Chr3:190120176 GRCh38: Chr3:190402387	CLDN16		Primary hypomagnesemia, not provided	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69215756.	NM_006580.4(CLDN16):c.217+5G>A GRCh37: Chr3:190120233 GRCh38: Chr3:190402444	CLDN16		Primary hypomagnesemia	Likely pathogenic (Oct 14, 2019)	no assertion criteria provided
Select item 56039057.	NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu) GRCh37: Chr3:190126112 GRCh38: Chr3:190408323	CLDN16	G201E, G131E	Primary hypomagnesemia	Pathogenic	no assertion criteria provided
Select item 54570358.	NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) GRCh37: Chr3:190122666-190122667 GRCh38: Chr3:190404877-190404878	CLDN16		Primary hypomagnesemia	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 54570259.	NM_006580.4(CLDN16):c.206C>T (p.Ala69Val) GRCh37: Chr3:190120217 GRCh38: Chr3:190402428	CLDN16	A139V, A69V	Primary hypomagnesemia	Pathogenic (Jun 29, 2018)	no assertion criteria provided
Select item 43869360.	NM_006580.4(CLDN16):c.468del (p.Gly157fs) GRCh37: Chr3:190126187 GRCh38: Chr3:190408398	CLDN16	G157fs	Primary hypomagnesemia	Pathogenic (Apr 20, 2017)	no assertion criteria provided
Select item 34447661.	NM_006580.4(CLDN16):c.*2098T>G GRCh37: Chr3:190129923 GRCh38: Chr3:190412134	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34447562.	NM_006580.4(CLDN16):c.*1779A>C GRCh37: Chr3:190129604 GRCh38: Chr3:190411815	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34447463.	NM_006580.4(CLDN16):c.*1763T>A GRCh37: Chr3:190129588 GRCh38: Chr3:190411799	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34447364.	NM_006580.4(CLDN16):c.*1733A>G GRCh37: Chr3:190129558 GRCh38: Chr3:190411769	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34447265.	NM_006580.4(CLDN16):c.*1559C>A GRCh37: Chr3:190129384 GRCh38: Chr3:190411595	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34447166.	NM_006580.4(CLDN16):c.*1491A>G GRCh37: Chr3:190129316 GRCh38: Chr3:190411527	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34447067.	NM_006580.4(CLDN16):c.*1453G>C GRCh37: Chr3:190129278 GRCh38: Chr3:190411489	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34446968.	NM_006580.4(CLDN16):c.*1377T>A GRCh37: Chr3:190129202 GRCh38: Chr3:190411413	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34446869.	NM_006580.4(CLDN16):c.*1348A>G GRCh37: Chr3:190129173 GRCh38: Chr3:190411384	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34446770.	NM_006580.4(CLDN16):c.*1333A>G GRCh37: Chr3:190129158 GRCh38: Chr3:190411369	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34446671.	NM_006580.4(CLDN16):c.*1313G>A GRCh37: Chr3:190129138 GRCh38: Chr3:190411349	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34446572.	NM_006580.4(CLDN16):c.*1178C>T GRCh37: Chr3:190129003 GRCh38: Chr3:190411214	CLDN16		Primary hypomagnesemia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34446473.	NM_006580.4(CLDN16):c.*1170G>A GRCh37: Chr3:190128995 GRCh38: Chr3:190411206	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34446374.	NM_006580.4(CLDN16):c.*1117G>A GRCh37: Chr3:190128942 GRCh38: Chr3:190411153	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34446275.	NM_006580.4(CLDN16):c.*965G>A GRCh37: Chr3:190128790 GRCh38: Chr3:190411001	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34446176.	NM_006580.4(CLDN16):c.*907A>G GRCh37: Chr3:190128732 GRCh38: Chr3:190410943	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34446077.	NM_006580.4(CLDN16):c.*842C>T GRCh37: Chr3:190128667 GRCh38: Chr3:190410878	CLDN16		Primary hypomagnesemia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34445978.	NM_006580.4(CLDN16):c.*794T>C GRCh37: Chr3:190128619 GRCh38: Chr3:190410830	CLDN16		Primary hypomagnesemia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34445879.	NM_006580.4(CLDN16):c.*768del GRCh37: Chr3:190128593 GRCh38: Chr3:190410804	CLDN16		Primary hypomagnesemia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34445780.	NM_006580.4(CLDN16):c.*761A>G GRCh37: Chr3:190128586 GRCh38: Chr3:190410797	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34445681.	NM_006580.4(CLDN16):c.*724A>C GRCh37: Chr3:190128549 GRCh38: Chr3:190410760	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34445582.	NM_006580.4(CLDN16):c.*249G>A GRCh37: Chr3:190128074 GRCh38: Chr3:190410285	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34445483.	NM_006580.4(CLDN16):c.*243C>T GRCh37: Chr3:190128068 GRCh38: Chr3:190410279	CLDN16		Primary hypomagnesemia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34445384.	NM_006580.4(CLDN16):c.*204C>T GRCh37: Chr3:190128029 GRCh38: Chr3:190410240	CLDN16		not provided, Primary hypomagnesemia	Benign/Likely benign (Oct 3, 2020)	criteria provided, multiple submitters, no conflicts
Select item 34445285.	NM_006580.4(CLDN16):c.*74A>G GRCh37: Chr3:190127899 GRCh38: Chr3:190410110	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34445186.	NM_006580.4(CLDN16):c.670G>A (p.Glu224Lys) GRCh37: Chr3:190127787 GRCh38: Chr3:190409998	CLDN16	E294K, E224K	Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34445087.	NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys) GRCh37: Chr3:190127737 GRCh38: Chr3:190409948	CLDN16	Y277C, Y207C	Primary hypomagnesemia, not provided	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34444988.	NM_006580.4(CLDN16):c.117G>A (p.Val39=) GRCh37: Chr3:190120128 GRCh38: Chr3:190402339	CLDN16		Primary hypomagnesemia, not provided	Conflicting interpretations of pathogenicity (May 15, 2018)	criteria provided, conflicting interpretations
Select item 34444889.	NM_006580.4(CLDN16):c.114+13C>G GRCh37: Chr3:190106245 GRCh38: Chr3:190388456	CLDN16		not provided, Primary hypomagnesemia	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 34444790.	NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu) GRCh37: Chr3:190106163 GRCh38: Chr3:190388374	CLDN16	F85L, F15L	not provided, Primary hypomagnesemia	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34444691.	NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro) GRCh37: Chr3:190106135 GRCh38: Chr3:190388346	CLDN16	Q76P, Q6P	Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34444592.	NM_006580.4(CLDN16):c.-45G>C GRCh37: Chr3:190106074 GRCh38: Chr3:190388285	CLDN16	A56P	not specified, Primary hypomagnesemia, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34444493.	NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs) GRCh37: Chr3:190105944 GRCh38: Chr3:190388155	CLDN16		Primary hypomagnesemia	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 34444394.	NM_006580.3(CLDN16):c.-3A>T GRCh37: Chr3:190105906 GRCh38: Chr3:190388117	CLDN16		Primary hypomagnesemia, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34444295.	NM_006580.3(CLDN16):c.-5G>A GRCh37: Chr3:190105904 GRCh38: Chr3:190388115	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34444196.	NM_006580.3(CLDN16):c.-6C>T GRCh37: Chr3:190105903 GRCh38: Chr3:190388114	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34444097.	NM_006580.3(CLDN16):c.-82A>G GRCh37: Chr3:190105827 GRCh38: Chr3:190388038	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34443998.	NM_006580.3(CLDN16):c.-136T>C GRCh37: Chr3:190105773 GRCh38: Chr3:190387984	CLDN16		Primary hypomagnesemia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 28260899.	NM_006580.4(CLDN16):c.-45del GRCh37: Chr3:190106072 GRCh38: Chr3:190388283	CLDN16	A56fs	not specified, not provided, Primary hypomagnesemia	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 260004100.	NM_006580.4(CLDN16):c.114+10T>C GRCh37: Chr3:190106242 GRCh38: Chr3:190388453	CLDN16		Primary hypomagnesemia, not specified, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts

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