ClinVar for MedGen (Select 88602) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 558

<< First< Prev

Page of 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25062761.	NM_002076.4(GNS):c.1098+1G>A GRCh37: Chr12:65130783 GRCh38: Chr12:64737003	GNS		Mucopolysaccharidosis, MPS-III-D	Pathogenic (May 19, 2023)	criteria provided, single submitter
Select item 25018022.	NM_002076.4(GNS):c.732C>A (p.Tyr244Ter) GRCh37: Chr12:65136981 GRCh38: Chr12:64743201	GNS	Y244*	Mucopolysaccharidosis, MPS-III-D	Pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 24243533.	NC_000012.11:g.(?_65110521)_(65153056_?)dup GRCh37: Chr12:65110521-65153056	GNS		Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 24211874.	NM_002076.4(GNS):c.1160A>G (p.Asn387Ser) GRCh37: Chr12:65122776 GRCh38: Chr12:64728996	GNS	N387S	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24208045.	NM_002076.4(GNS):c.85C>G (p.Leu29Val) GRCh37: Chr12:65152972 GRCh38: Chr12:64759192	GNS	L29V	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 22016346.	NM_002076.4(GNS):c.1609A>G (p.Ser537Gly) GRCh37: Chr12:65110571 GRCh38: Chr12:64716791	GNS	S537G	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 22011947.	NM_002076.4(GNS):c.1201-11_1201-10del GRCh37: Chr12:65116903-65116904 GRCh38: Chr12:64723123-64723124	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 21999978.	NM_002076.4(GNS):c.1555C>T (p.Arg519Cys) GRCh37: Chr12:65113827 GRCh38: Chr12:64720047	GNS	R519C	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 21997039.	NM_002076.4(GNS):c.1621A>G (p.Ser541Gly) GRCh37: Chr12:65110559 GRCh38: Chr12:64716779	GNS	S541G	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 219861010.	NM_002076.4(GNS):c.1556G>A (p.Arg519His) GRCh37: Chr12:65113826 GRCh38: Chr12:64720046	GNS	R519H	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 219665811.	NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr) GRCh37: Chr12:65115469 GRCh38: Chr12:64721689	GNS	C442Y	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219183912.	NM_002076.4(GNS):c.215C>G (p.Ala72Gly) GRCh37: Chr12:65146515 GRCh38: Chr12:64752735	GNS	A72G	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 219179713.	NM_002076.4(GNS):c.193-10_193-7del GRCh37: Chr12:65146544-65146547 GRCh38: Chr12:64752764-64752767	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 219131314.	NM_002076.4(GNS):c.1234G>A (p.Val412Ile) GRCh37: Chr12:65116860 GRCh38: Chr12:64723080	GNS	V412I	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 218871115.	NM_002076.4(GNS):c.1082C>T (p.Pro361Leu) GRCh37: Chr12:65130800 GRCh38: Chr12:64737020	GNS	P361L	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 218640216.	NM_002076.4(GNS):c.624+16T>G GRCh37: Chr12:65138573 GRCh38: Chr12:64744793	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 27, 2022)	criteria provided, single submitter
Select item 218458617.	NM_002076.4(GNS):c.96C>T (p.Gly32=) GRCh37: Chr12:65152961 GRCh38: Chr12:64759181	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 218350318.	NM_002076.4(GNS):c.940G>A (p.Gly314Arg) GRCh37: Chr12:65133215 GRCh38: Chr12:64739435	GNS	G314R	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218310619.	NM_002076.4(GNS):c.859A>G (p.Asn287Asp) GRCh37: Chr12:65134402 GRCh38: Chr12:64740622	GNS	N287D	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 218303420.	NM_002076.4(GNS):c.386C>G (p.Pro129Arg) GRCh37: Chr12:65141565 GRCh38: Chr12:64747785	GNS	P129R	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 218107621.	NM_002076.4(GNS):c.1308+9T>C GRCh37: Chr12:65116777 GRCh38: Chr12:64722997	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 217888122.	NM_002076.4(GNS):c.1308+8A>T GRCh37: Chr12:65116778 GRCh38: Chr12:64722998	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 217529323.	NM_002076.4(GNS):c.1048G>A (p.Val350Ile) GRCh37: Chr12:65130834 GRCh38: Chr12:64737054	GNS	V350I	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 217322224.	NM_002076.4(GNS):c.1581-20A>G GRCh37: Chr12:65110619 GRCh38: Chr12:64716839	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 217255125.	NM_002076.4(GNS):c.554C>A (p.Thr185Asn) GRCh37: Chr12:65138659 GRCh38: Chr12:64744879	GNS	T185N	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 217166126.	NM_002076.4(GNS):c.1311A>G (p.Gln437=) GRCh37: Chr12:65115483 GRCh38: Chr12:64721703	GNS		Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 216953027.	NM_002076.4(GNS):c.1267G>A (p.Val423Ile) GRCh37: Chr12:65116827 GRCh38: Chr12:64723047	GNS	V423I	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 216713028.	NM_002076.4(GNS):c.1341T>G (p.Ala447=) GRCh37: Chr12:65115453 GRCh38: Chr12:64721673	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 216630529.	NM_002076.4(GNS):c.633C>G (p.Val211=) GRCh37: Chr12:65137080 GRCh38: Chr12:64743300	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 216628530.	NM_002076.4(GNS):c.739G>A (p.Ala247Thr) GRCh37: Chr12:65136974 GRCh38: Chr12:64743194	GNS	A247T	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 216601031.	NM_002076.4(GNS):c.1516C>T (p.Arg506Trp) GRCh37: Chr12:65113866 GRCh38: Chr12:64720086	GNS	R506W	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 216577032.	NM_002076.4(GNS):c.1578C>A (p.Pro526=) GRCh37: Chr12:65113804 GRCh38: Chr12:64720024	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 216435433.	NM_002076.4(GNS):c.1098+3A>G GRCh37: Chr12:65130781 GRCh38: Chr12:64737001	GNS		Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 216356934.	NM_002076.4(GNS):c.1327G>A (p.Val443Ile) GRCh37: Chr12:65115467 GRCh38: Chr12:64721687	GNS	V443I	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 216288535.	NM_002076.4(GNS):c.140C>T (p.Pro47Leu) GRCh37: Chr12:65152917 GRCh38: Chr12:64759137	GNS	P47L	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 216232236.	NM_002076.4(GNS):c.252+20C>T GRCh37: Chr12:65146458 GRCh38: Chr12:64752678	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215967837.	NM_002076.4(GNS):c.1056G>C (p.Leu352=) GRCh37: Chr12:65130826 GRCh38: Chr12:64737046	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 215807838.	NM_002076.4(GNS):c.1309-8C>A GRCh37: Chr12:65115493 GRCh38: Chr12:64721713	GNS		Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 215801839.	NM_002076.4(GNS):c.1554T>A (p.Cys518Ter) GRCh37: Chr12:65113828 GRCh38: Chr12:64720048	GNS	C518*	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 215739640.	NM_002076.4(GNS):c.624+20T>A GRCh37: Chr12:65138569 GRCh38: Chr12:64744789	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 215684541.	NM_002076.4(GNS):c.770A>C (p.Lys257Thr) GRCh37: Chr12:65136943 GRCh38: Chr12:64743163	GNS	K257T	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215643942.	NM_002076.4(GNS):c.389A>G (p.Asn130Ser) GRCh37: Chr12:65141562 GRCh38: Chr12:64747782	GNS	N130S	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 215613643.	NM_002076.4(GNS):c.1229C>T (p.Ser410Leu) GRCh37: Chr12:65116865 GRCh38: Chr12:64723085	GNS	S410L	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 215414944.	NM_002076.4(GNS):c.896T>C (p.Val299Ala) GRCh37: Chr12:65133259 GRCh38: Chr12:64739479	GNS	V299A	Inborn genetic diseases, Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215385445.	NM_002076.4(GNS):c.1380A>G (p.Ala460=) GRCh37: Chr12:65115414 GRCh38: Chr12:64721634	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 215366746.	NM_002076.4(GNS):c.1309-16T>C GRCh37: Chr12:65115501 GRCh38: Chr12:64721721	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 215358447.	NM_002076.4(GNS):c.1584C>T (p.Tyr528=) GRCh37: Chr12:65110596 GRCh38: Chr12:64716816	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 215180048.	NM_002076.4(GNS):c.525+19C>T GRCh37: Chr12:65139420 GRCh38: Chr12:64745640	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 215175749.	NM_002076.4(GNS):c.1105G>A (p.Val369Ile) GRCh37: Chr12:65122831 GRCh38: Chr12:64729051	GNS	V369I	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 214901450.	NM_002076.4(GNS):c.30G>T (p.Arg10=) GRCh37: Chr12:65153027 GRCh38: Chr12:64759247	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 214727251.	NM_002076.4(GNS):c.34C>T (p.Arg12Trp) GRCh37: Chr12:65153023 GRCh38: Chr12:64759243	GNS	R12W	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214571552.	NM_002076.4(GNS):c.192+8T>A GRCh37: Chr12:65152857 GRCh38: Chr12:64759077	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 214543153.	NM_002076.4(GNS):c.322C>T (p.His108Tyr) GRCh37: Chr12:65141629 GRCh38: Chr12:64747849	GNS	H108Y	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 214410854.	NM_002076.4(GNS):c.138G>T (p.Arg46Ser) GRCh37: Chr12:65152919 GRCh38: Chr12:64759139	GNS	R46S	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 214329155.	NM_002076.4(GNS):c.493G>A (p.Val165Ile) GRCh37: Chr12:65139471 GRCh38: Chr12:64745691	GNS	V165I	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 214230956.	NM_002076.4(GNS):c.109G>C (p.Val37Leu) GRCh37: Chr12:65152948 GRCh38: Chr12:64759168	GNS	V37L	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214154857.	NM_002076.4(GNS):c.596A>G (p.Tyr199Cys) GRCh37: Chr12:65138617 GRCh38: Chr12:64744837	GNS	Y199C	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 214087758.	NM_002076.4(GNS):c.760C>A (p.Pro254Thr) GRCh37: Chr12:65136953 GRCh38: Chr12:64743173	GNS	P254T	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 214050159.	NM_002076.4(GNS):c.926G>A (p.Arg309Lys) GRCh37: Chr12:65133229 GRCh38: Chr12:64739449	GNS	R309K	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 213942060.	NM_002076.4(GNS):c.1078A>G (p.Lys360Glu) GRCh37: Chr12:65130804 GRCh38: Chr12:64737024	GNS	K360E	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 213940561.	NM_002076.4(GNS):c.1401C>T (p.Cys467=) GRCh37: Chr12:65115393 GRCh38: Chr12:64721613	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 213938962.	NM_002076.4(GNS):c.145G>C (p.Val49Leu) GRCh37: Chr12:65152912 GRCh38: Chr12:64759132	GNS	V49L	Inborn genetic diseases, Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213738863.	NM_002076.4(GNS):c.59_66del (p.Pro20fs) GRCh37: Chr12:65152991-65152998 GRCh38: Chr12:64759211-64759218	GNS	P20fs	Mucopolysaccharidosis, MPS-III-D	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 213738764.	NM_002076.4(GNS):c.1019A>G (p.Lys340Arg) GRCh37: Chr12:65130863 GRCh38: Chr12:64737083	GNS	K340R	Mucopolysaccharidosis, MPS-III-D	Likely pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 213583365.	NM_002076.4(GNS):c.441del (p.Lys149fs) GRCh37: Chr12:65141510 GRCh38: Chr12:64747730	GNS	K149fs	Mucopolysaccharidosis, MPS-III-D	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 213404666.	NM_002076.4(GNS):c.365C>G (p.Ser122Cys) GRCh37: Chr12:65141586 GRCh38: Chr12:64747806	GNS	S122C	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 213335667.	NM_002076.4(GNS):c.187G>T (p.Gly63Cys) GRCh37: Chr12:65152870 GRCh38: Chr12:64759090	GNS	G63C	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213303768.	NM_002076.4(GNS):c.1535C>T (p.Ser512Phe) GRCh37: Chr12:65113847 GRCh38: Chr12:64720067	GNS	S512F	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 213196569.	NM_002076.4(GNS):c.35G>A (p.Arg12Gln) GRCh37: Chr12:65153022 GRCh38: Chr12:64759242	GNS	R12Q	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 213102770.	NM_002076.4(GNS):c.446A>G (p.Lys149Arg) GRCh37: Chr12:65141505 GRCh38: Chr12:64747725	GNS	K149R	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212916271.	NM_002076.4(GNS):c.459+16T>G GRCh37: Chr12:65141476 GRCh38: Chr12:64747696	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212906372.	NM_002076.4(GNS):c.1194C>G (p.Pro398=) GRCh37: Chr12:65122742 GRCh38: Chr12:64728962	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 212457373.	NM_002076.4(GNS):c.1626C>T (p.Val542=) GRCh37: Chr12:65110554 GRCh38: Chr12:64716774	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 212373274.	NM_002076.4(GNS):c.875+9dup GRCh37: Chr12:65134376-65134377 GRCh38: Chr12:64740596-64740597	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212122475.	NM_002076.4(GNS):c.708G>T (p.Ser236=) GRCh37: Chr12:65137005 GRCh38: Chr12:64743225	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 212086676.	NM_002076.4(GNS):c.1596C>T (p.Pro532=) GRCh37: Chr12:65110584 GRCh38: Chr12:64716804	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 212068777.	NM_002076.4(GNS):c.861T>C (p.Asn287=) GRCh37: Chr12:65134400 GRCh38: Chr12:64740620	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211769678.	NM_002076.4(GNS):c.15T>C (p.Pro5=) GRCh37: Chr12:65153042 GRCh38: Chr12:64759262	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 211582479.	NM_002076.4(GNS):c.1309-4A>T GRCh37: Chr12:65115489 GRCh38: Chr12:64721709	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 211416680.	NM_002076.4(GNS):c.1539T>C (p.Cys513=) GRCh37: Chr12:65113843 GRCh38: Chr12:64720063	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211060081.	NM_002076.4(GNS):c.1420-16C>T GRCh37: Chr12:65113978 GRCh38: Chr12:64720198	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 211058082.	NM_002076.4(GNS):c.1264A>G (p.Asn422Asp) GRCh37: Chr12:65116830 GRCh38: Chr12:64723050	GNS	N422D	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210449283.	NM_002076.4(GNS):c.1143T>C (p.Ile381=) GRCh37: Chr12:65122793 GRCh38: Chr12:64729013	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 210443784.	NM_002076.4(GNS):c.1281A>G (p.Thr427=) GRCh37: Chr12:65116813 GRCh38: Chr12:64723033	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 210433385.	NM_002076.4(GNS):c.994+20A>G GRCh37: Chr12:65133141 GRCh38: Chr12:64739361	GNS		Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210240486.	NM_002076.4(GNS):c.1600C>T (p.Leu534Phe) GRCh37: Chr12:65110580 GRCh38: Chr12:64716800	GNS	L534F	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 210224087.	NM_002076.4(GNS):c.1200+1G>T GRCh37: Chr12:65122735 GRCh38: Chr12:64728955	GNS		Mucopolysaccharidosis, MPS-III-D	Likely pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 210149588.	NM_002076.4(GNS):c.825T>C (p.Thr275=) GRCh37: Chr12:65134436 GRCh38: Chr12:64740656	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 209935389.	NM_002076.4(GNS):c.561T>A (p.Ser187=) GRCh37: Chr12:65138652 GRCh38: Chr12:64744872	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 209674290.	NM_002076.4(GNS):c.837T>C (p.Asn279=) GRCh37: Chr12:65134424 GRCh38: Chr12:64740644	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209593291.	NM_002076.4(GNS):c.372G>A (p.Gln124=) GRCh37: Chr12:65141579 GRCh38: Chr12:64747799	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 209322892.	NM_002076.4(GNS):c.1488C>T (p.Asp496=) GRCh37: Chr12:65113894 GRCh38: Chr12:64720114	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 209063993.	NM_002076.4(GNS):c.76C>T (p.Leu26=) GRCh37: Chr12:65152981 GRCh38: Chr12:64759201	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 208990194.	NM_002076.4(GNS):c.1091C>T (p.Thr364Ile) GRCh37: Chr12:65130791 GRCh38: Chr12:64737011	GNS	T364I	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 208824995.	NM_002076.4(GNS):c.66C>T (p.Cys22=) GRCh37: Chr12:65152991 GRCh38: Chr12:64759211	GNS		Mucopolysaccharidosis, MPS-III-D	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208712896.	NM_002076.4(GNS):c.1424T>C (p.Phe475Ser) GRCh37: Chr12:65113958 GRCh38: Chr12:64720178	GNS	F475S	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208347997.	NM_002076.4(GNS):c.1008G>C (p.Leu336Phe) GRCh37: Chr12:65130874 GRCh38: Chr12:64737094	GNS	L336F	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 207957698.	NM_002076.4(GNS):c.76C>G (p.Leu26Val) GRCh37: Chr12:65152981 GRCh38: Chr12:64759201	GNS	L26V	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 207788399.	NM_002076.4(GNS):c.694C>T (p.Pro232Ser) GRCh37: Chr12:65137019 GRCh38: Chr12:64743239	GNS	P232S	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 2072892100.	NM_002076.4(GNS):c.1120T>A (p.Leu374Met) GRCh37: Chr12:65122816 GRCh38: Chr12:64729036	GNS	L374M	Mucopolysaccharidosis, MPS-III-D	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter

<< First< Prev

Page of 6