ClinVar for MedGen (Select 435914) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24268161.	NC_000012.11:g.(?_102158416)_(102185374_?)del GRCh37: Chr12:102158416-102185374	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 24268152.	NC_000012.11:g.(?_102173920)_(102174409_?)del GRCh37: Chr12:102173920-102174409	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 24268143.	NC_000012.11:g.(?_102157970)_(102174409_?)del GRCh37: Chr12:102157970-102174409	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 24268134.	NC_000012.11:g.(?_102140932)_(102224463_?)del GRCh37: Chr12:102140932-102224463	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 24219315.	NM_024312.5(GNPTAB):c.1869A>G (p.Glu623=) GRCh37: Chr12:102158826 GRCh38: Chr12:101765048	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 24190116.	NM_024312.5(GNPTAB):c.2701C>T (p.Gln901Ter) GRCh37: Chr12:102157994 GRCh38: Chr12:101764216	GNPTAB	Q901*	Pseudo-Hurler polydystrophy, Mucolipidosis type II	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 24190107.	NM_024312.5(GNPTAB):c.2972T>G (p.Met991Arg) GRCh37: Chr12:102155068 GRCh38: Chr12:101761290	GNPTAB	M991R	Pseudo-Hurler polydystrophy, Mucolipidosis type II	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 24154318.	NM_024312.5(GNPTAB):c.1409-3C>T GRCh37: Chr12:102160075 GRCh38: Chr12:101766297	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 24150009.	NM_024312.5(GNPTAB):c.3063A>G (p.Gln1021=) GRCh37: Chr12:102154977 GRCh38: Chr12:101761199	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 241499910.	NM_024312.5(GNPTAB):c.997T>C (p.Leu333=) GRCh37: Chr12:102164300 GRCh38: Chr12:101770522	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 241447011.	NM_024312.5(GNPTAB):c.2901A>G (p.Gln967=) GRCh37: Chr12:102155356 GRCh38: Chr12:101761578	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 220255512.	NM_024312.5(GNPTAB):c.800C>T (p.Ala267Val) GRCh37: Chr12:102164907 GRCh38: Chr12:101771129	GNPTAB	A267V	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 220214813.	NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln) GRCh37: Chr12:102158935 GRCh38: Chr12:101765157	GNPTAB	R587Q	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 220103214.	NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met) GRCh37: Chr12:102158848 GRCh38: Chr12:101765070	GNPTAB	T616M	Pseudo-Hurler polydystrophy, Mucolipidosis type II	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 219948915.	NM_024312.5(GNPTAB):c.637-20T>C GRCh37: Chr12:102174084 GRCh38: Chr12:101780306	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 219774016.	NM_024312.5(GNPTAB):c.3498T>C (p.Ala1166=) GRCh37: Chr12:102147254 GRCh38: Chr12:101753476	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 219349017.	NM_024312.5(GNPTAB):c.221C>T (p.Pro74Leu) GRCh37: Chr12:102183818 GRCh38: Chr12:101790040	GNPTAB	P74L	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 219303118.	NM_024312.5(GNPTAB):c.1052A>G (p.Asn351Ser) GRCh37: Chr12:102164245 GRCh38: Chr12:101770467	GNPTAB	N351S	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 218969019.	NM_024312.5(GNPTAB):c.2443A>C (p.Arg815=) GRCh37: Chr12:102158252 GRCh38: Chr12:101764474	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 218905420.	NM_024312.5(GNPTAB):c.2012A>G (p.Lys671Arg) GRCh37: Chr12:102158683 GRCh38: Chr12:101764905	GNPTAB	K671R	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 218892021.	NM_024312.5(GNPTAB):c.1185C>G (p.Ile395Met) GRCh37: Chr12:102163898 GRCh38: Chr12:101770120	GNPTAB	I395M	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 218643322.	NM_024312.5(GNPTAB):c.1114-22_1114-19del GRCh37: Chr12:102163988-102163991 GRCh38: Chr12:101770210-101770213	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 218566823.	NM_024312.5(GNPTAB):c.1123C>A (p.Arg375=) GRCh37: Chr12:102163960 GRCh38: Chr12:101770182	GNPTAB		Pseudo-Hurler polydystrophy, Mucolipidosis type II	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 218560224.	NM_024312.5(GNPTAB):c.165C>T (p.Ser55=) GRCh37: Chr12:102190493 GRCh38: Chr12:101796715	GNPTAB		Pseudo-Hurler polydystrophy, Mucolipidosis type II	Likely benign (May 9, 2020)	criteria provided, single submitter
Select item 218554325.	NM_024312.5(GNPTAB):c.3586C>T (p.His1196Tyr) GRCh37: Chr12:102147166 GRCh38: Chr12:101753388	GNPTAB	H1196Y	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 218243826.	NM_024312.5(GNPTAB):c.3036A>G (p.Gln1012=) GRCh37: Chr12:102155004 GRCh38: Chr12:101761226	GNPTAB		Pseudo-Hurler polydystrophy, Mucolipidosis type II	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 217987127.	NM_024312.5(GNPTAB):c.2403C>A (p.Asp801Glu) GRCh37: Chr12:102158292 GRCh38: Chr12:101764514	GNPTAB	D801E	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 217577828.	NM_024312.5(GNPTAB):c.3431C>G (p.Pro1144Arg) GRCh37: Chr12:102150993 GRCh38: Chr12:101757215	GNPTAB	P1144R	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 217470429.	NM_024312.5(GNPTAB):c.636+3A>G GRCh37: Chr12:102174332 GRCh38: Chr12:101780554	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 217330330.	NM_024312.5(GNPTAB):c.447C>T (p.Ile149=) GRCh37: Chr12:102179914 GRCh38: Chr12:101786136	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 216802031.	NM_024312.5(GNPTAB):c.2020C>T (p.Arg674Cys) GRCh37: Chr12:102158675 GRCh38: Chr12:101764897	GNPTAB	R674C	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 216710832.	NM_024312.5(GNPTAB):c.2105T>C (p.Leu702Pro) GRCh37: Chr12:102158590 GRCh38: Chr12:101764812	GNPTAB	L702P	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 216705333.	NM_024312.5(GNPTAB):c.1945T>C (p.Tyr649His) GRCh37: Chr12:102158750 GRCh38: Chr12:101764972	GNPTAB	Y649H	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 216630434.	NM_024312.5(GNPTAB):c.3566G>A (p.Arg1189Gln) GRCh37: Chr12:102147186 GRCh38: Chr12:101753408	GNPTAB	R1189Q	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 216542935.	NM_024312.5(GNPTAB):c.2887C>T (p.Arg963Trp) GRCh37: Chr12:102155370 GRCh38: Chr12:101761592	GNPTAB	R963W	Pseudo-Hurler polydystrophy, Mucolipidosis type II	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 216445636.	NM_024312.5(GNPTAB):c.204-5C>G GRCh37: Chr12:102183840 GRCh38: Chr12:101790062	GNPTAB		Pseudo-Hurler polydystrophy, Mucolipidosis type II	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 216115737.	NM_024312.5(GNPTAB):c.2106C>G (p.Leu702=) GRCh37: Chr12:102158589 GRCh38: Chr12:101764811	GNPTAB		Pseudo-Hurler polydystrophy, Mucolipidosis type II	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 216003138.	NM_024312.5(GNPTAB):c.909A>C (p.Leu303Phe) GRCh37: Chr12:102164798 GRCh38: Chr12:101771020	GNPTAB	L303F	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 215973439.	NM_024312.5(GNPTAB):c.862A>G (p.Met288Val) GRCh37: Chr12:102164845 GRCh38: Chr12:101771067	GNPTAB	M288V	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 215895540.	NM_024312.5(GNPTAB):c.2359A>T (p.Arg787Trp) GRCh37: Chr12:102158336 GRCh38: Chr12:101764558	GNPTAB	R787W	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215786441.	NM_024312.5(GNPTAB):c.808A>G (p.Lys270Glu) GRCh37: Chr12:102164899 GRCh38: Chr12:101771121	GNPTAB	K270E	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 215778842.	NM_024312.5(GNPTAB):c.2475C>T (p.Thr825=) GRCh37: Chr12:102158220 GRCh38: Chr12:101764442	GNPTAB		Pseudo-Hurler polydystrophy, Mucolipidosis type II	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 215549443.	NM_024312.5(GNPTAB):c.3336-4T>C GRCh37: Chr12:102151092 GRCh38: Chr12:101757314	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 215408544.	NM_024312.5(GNPTAB):c.1051A>G (p.Asn351Asp) GRCh37: Chr12:102164246 GRCh38: Chr12:101770468	GNPTAB	N351D	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 215242145.	NM_024312.5(GNPTAB):c.2027C>T (p.Pro676Leu) GRCh37: Chr12:102158668 GRCh38: Chr12:101764890	GNPTAB	P676L	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 215137146.	NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu) GRCh37: Chr12:102224445 GRCh38: Chr12:101830667	GNPTAB	F3L	Inborn genetic diseases, Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214963347.	NM_024312.5(GNPTAB):c.3434+16T>C GRCh37: Chr12:102150974 GRCh38: Chr12:101757196	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 214723748.	NM_024312.5(GNPTAB):c.1903A>C (p.Thr635Pro) GRCh37: Chr12:102158792 GRCh38: Chr12:101765014	GNPTAB	T635P	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 214719349.	NM_024312.5(GNPTAB):c.2421C>G (p.Pro807=) GRCh37: Chr12:102158274 GRCh38: Chr12:101764496	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 214606750.	NM_024312.5(GNPTAB):c.307G>A (p.Glu103Lys) GRCh37: Chr12:102183732 GRCh38: Chr12:101789954	GNPTAB	E103K	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Apr 22, 2021)	criteria provided, single submitter
Select item 214582551.	NM_024312.5(GNPTAB):c.2257A>T (p.Ile753Leu) GRCh37: Chr12:102158438 GRCh38: Chr12:101764660	GNPTAB	I753L	Inborn genetic diseases, Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214468852.	NM_024312.5(GNPTAB):c.1949A>G (p.Glu650Gly) GRCh37: Chr12:102158746 GRCh38: Chr12:101764968	GNPTAB	E650G	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 214423553.	NM_024312.5(GNPTAB):c.3254C>T (p.Pro1085Leu) GRCh37: Chr12:102151431 GRCh38: Chr12:101757653	GNPTAB	P1085L	Inborn genetic diseases, Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214329354.	NM_024312.5(GNPTAB):c.3614G>A (p.Arg1205Gln) GRCh37: Chr12:102142958 GRCh38: Chr12:101749180	GNPTAB	R1205Q	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 214301755.	NM_024312.5(GNPTAB):c.3090C>T (p.Ile1030=) GRCh37: Chr12:102154950 GRCh38: Chr12:101761172	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 214249856.	NM_024312.5(GNPTAB):c.2829T>C (p.Asn943=) GRCh37: Chr12:102155428 GRCh38: Chr12:101761650	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 214090157.	NM_024312.5(GNPTAB):c.1517A>T (p.Asn506Ile) GRCh37: Chr12:102159964 GRCh38: Chr12:101766186	GNPTAB	N506I	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 214049158.	NM_024312.5(GNPTAB):c.3364G>A (p.Ala1122Thr) GRCh37: Chr12:102151060 GRCh38: Chr12:101757282	GNPTAB	A1122T	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214005459.	NM_024312.5(GNPTAB):c.3572G>A (p.Arg1191His) GRCh37: Chr12:102147180 GRCh38: Chr12:101753402	GNPTAB	R1191H	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 213978360.	NM_024312.5(GNPTAB):c.569A>G (p.Asp190Gly) GRCh37: Chr12:102179792 GRCh38: Chr12:101786014	GNPTAB	D190G	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 213740361.	NM_024312.5(GNPTAB):c.227A>G (p.Asp76Gly) GRCh37: Chr12:102183812 GRCh38: Chr12:101790034	GNPTAB	D76G	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 213740162.	NM_024312.5(GNPTAB):c.831del (p.Gln278fs) GRCh37: Chr12:102164876 GRCh38: Chr12:101771098	GNPTAB	Q278fs	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 213739963.	NM_024312.5(GNPTAB):c.1212C>G (p.Tyr404Ter) GRCh37: Chr12:102163871 GRCh38: Chr12:101770093	GNPTAB	Y404*	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 213596564.	NM_024312.5(GNPTAB):c.780_895delinsTTTTTATTATGGGAT (p.Leu260fs) GRCh37: Chr12:102164812-102164927 GRCh38: Chr12:101771034-101771149	GNPTAB	L260fs	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 213362765.	NM_024312.5(GNPTAB):c.2082A>G (p.Lys694=) GRCh37: Chr12:102158613 GRCh38: Chr12:101764835	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 213358166.	NM_024312.5(GNPTAB):c.3666T>C (p.Phe1222=) GRCh37: Chr12:102142906 GRCh38: Chr12:101749128	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Nov 24, 2021)	criteria provided, single submitter
Select item 212902167.	NM_024312.5(GNPTAB):c.1664A>G (p.Tyr555Cys) GRCh37: Chr12:102159031 GRCh38: Chr12:101765253	GNPTAB	Y555C	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212831668.	NM_024312.5(GNPTAB):c.441C>A (p.Ala147=) GRCh37: Chr12:102179920 GRCh38: Chr12:101786142	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212663069.	NM_024312.5(GNPTAB):c.772-7T>A GRCh37: Chr12:102164942 GRCh38: Chr12:101771164	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212649370.	NM_024312.5(GNPTAB):c.1290T>C (p.Tyr430=) GRCh37: Chr12:102161933 GRCh38: Chr12:101768155	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 212630671.	NM_024312.5(GNPTAB):c.1794C>T (p.Ile598=) GRCh37: Chr12:102158901 GRCh38: Chr12:101765123	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212380972.	NM_024312.5(GNPTAB):c.1113+9C>T GRCh37: Chr12:102164175 GRCh38: Chr12:101770397	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 212085173.	NM_024312.5(GNPTAB):c.2109T>G (p.Leu703=) GRCh37: Chr12:102158586 GRCh38: Chr12:101764808	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 211921174.	NM_024312.5(GNPTAB):c.2703A>G (p.Gln901=) GRCh37: Chr12:102157992 GRCh38: Chr12:101764214	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211803375.	NM_024312.5(GNPTAB):c.2246_2263dup (p.Ile754_Thr755insLysAsnGlnAlaIleIle) GRCh37: Chr12:102158431-102158432 GRCh38: Chr12:101764653-101764654	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211378376.	NM_024312.5(GNPTAB):c.729A>G (p.Leu243=) GRCh37: Chr12:102173972 GRCh38: Chr12:101780194	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 211346877.	NM_024312.5(GNPTAB):c.1612+18C>G GRCh37: Chr12:102159851 GRCh38: Chr12:101766073	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 211275378.	NM_024312.5(GNPTAB):c.1362G>A (p.Lys454=) GRCh37: Chr12:102161861 GRCh38: Chr12:101768083	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 211214079.	NM_024312.5(GNPTAB):c.2943A>T (p.Ser981=) GRCh37: Chr12:102155097 GRCh38: Chr12:101761319	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211064980.	NM_024312.5(GNPTAB):c.3429C>T (p.Asn1143=) GRCh37: Chr12:102150995 GRCh38: Chr12:101757217	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 210857981.	NM_024312.5(GNPTAB):c.1824C>T (p.Ala608=) GRCh37: Chr12:102158871 GRCh38: Chr12:101765093	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210361982.	NM_024312.5(GNPTAB):c.2830A>C (p.Ser944Arg) GRCh37: Chr12:102155427 GRCh38: Chr12:101761649	GNPTAB	S944R	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210137383.	NM_024312.5(GNPTAB):c.405G>A (p.Lys135=) GRCh37: Chr12:102179956 GRCh38: Chr12:101786178	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 210068384.	NM_024312.5(GNPTAB):c.2541_2544del (p.Glu849fs) GRCh37: Chr12:102158151-102158154 GRCh38: Chr12:101764373-101764376	GNPTAB	E849fs	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 209942985.	NM_024312.5(GNPTAB):c.2915+14G>C GRCh37: Chr12:102155328 GRCh38: Chr12:101761550	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209845986.	NM_024312.5(GNPTAB):c.2748C>G (p.Tyr916Ter) GRCh37: Chr12:102155509 GRCh38: Chr12:101761731	GNPTAB	Y916*	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 209617487.	NM_024312.5(GNPTAB):c.1246dup (p.Trp416fs) GRCh37: Chr12:102163836-102163837 GRCh38: Chr12:101770058-101770059	GNPTAB	W416fs	Pseudo-Hurler polydystrophy, Mucolipidosis type II	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 209158988.	NM_024312.5(GNPTAB):c.524dup (p.Asn175fs) GRCh37: Chr12:102179836-102179837 GRCh38: Chr12:101786058-101786059	GNPTAB	N175fs	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 208670789.	NM_024312.5(GNPTAB):c.2355G>A (p.Leu785=) GRCh37: Chr12:102158340 GRCh38: Chr12:101764562	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208562490.	NM_024312.5(GNPTAB):c.3175A>G (p.Lys1059Glu) GRCh37: Chr12:102153882 GRCh38: Chr12:101760104	GNPTAB	K1059E	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 208516691.	NM_024312.5(GNPTAB):c.3603-9T>G GRCh37: Chr12:102142978 GRCh38: Chr12:101749200	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 208372292.	NM_024312.5(GNPTAB):c.3715A>G (p.Ile1239Val) GRCh37: Chr12:102140998 GRCh38: Chr12:101747220	GNPTAB	I1239V	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208371993.	NM_024312.5(GNPTAB):c.1650A>G (p.Pro550=) GRCh37: Chr12:102159045 GRCh38: Chr12:101765267	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 208155994.	NM_024312.5(GNPTAB):c.2467C>T (p.Gln823Ter) GRCh37: Chr12:102158228 GRCh38: Chr12:101764450	GNPTAB	Q823*	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 208076595.	NM_024312.5(GNPTAB):c.527C>T (p.Pro176Leu) GRCh37: Chr12:102179834 GRCh38: Chr12:101786056	GNPTAB	P176L	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 207852096.	NM_024312.5(GNPTAB):c.1285-5C>G GRCh37: Chr12:102161943 GRCh38: Chr12:101768165	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 207837897.	NM_024312.5(GNPTAB):c.345A>C (p.Thr115=) GRCh37: Chr12:102182346 GRCh38: Chr12:101788568	GNPTAB		Mucolipidosis type II, Pseudo-Hurler polydystrophy	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 207677098.	NM_024312.5(GNPTAB):c.1094T>C (p.Val365Ala) GRCh37: Chr12:102164203 GRCh38: Chr12:101770425	GNPTAB	V365A	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 207458399.	NM_024312.5(GNPTAB):c.1684T>C (p.Cys562Arg) GRCh37: Chr12:102159011 GRCh38: Chr12:101765233	GNPTAB	C562R	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 2071129100.	NM_024312.5(GNPTAB):c.3515A>G (p.Tyr1172Cys) GRCh37: Chr12:102147237 GRCh38: Chr12:101753459	GNPTAB	Y1172C	Mucolipidosis type II, Pseudo-Hurler polydystrophy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter

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