ClinVar for MedGen (Select 347406) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24439981.	NM_004525.3(LRP2):c.1661C>A (p.Thr554Lys) GRCh37: Chr2:170134366 GRCh38: Chr2:169277856	LRP2	T554K	Donnai-Barrow syndrome	Uncertain significance	no assertion criteria provided
Select item 24412452.	NM_004525.3(LRP2):c.11868del (p.Trp3956fs) GRCh37: Chr2:170019001 GRCh38: Chr2:169162491	LRP2	W3956fs	Donnai-Barrow syndrome	Likely pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 24335203.	NM_004525.3(LRP2):c.4844T>G (p.Met1615Arg) GRCh37: Chr2:170092426 GRCh38: Chr2:169235916	LRP2	M1615R	Donnai-Barrow syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 24335194.	NM_004525.3(LRP2):c.3509G>A (p.Gly1170Asp) GRCh37: Chr2:170099954 GRCh38: Chr2:169243444	LRP2	G1170D	Donnai-Barrow syndrome	Uncertain significance (Aug 21, 2019)	criteria provided, single submitter
Select item 24335175.	NM_004525.3(LRP2):c.12757G>C (p.Val4253Leu) GRCh37: Chr2:170003303 GRCh38: Chr2:169146793	LRP2	V4253L	Donnai-Barrow syndrome	Uncertain significance (Sep 3, 2019)	criteria provided, single submitter
Select item 19347036.	NM_004525.3(LRP2):c.10169+6T>C GRCh37: Chr2:170037952 GRCh38: Chr2:169181442	LRP2		not provided, Donnai-Barrow syndrome	Uncertain significance (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17224037.	NM_004525.3(LRP2):c.2006del (p.Gly669fs) GRCh37: Chr2:170129547 GRCh38: Chr2:169273037	LRP2	G669fs	Donnai-Barrow syndrome	Likely pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 17081158.	NM_004525.3(LRP2):c.3259G>A (p.Asp1087Asn) GRCh37: Chr2:170101374 GRCh38: Chr2:169244864	LRP2	D1087N	Donnai-Barrow syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 17081139.	NM_004525.3(LRP2):c.10571+5G>A GRCh37: Chr2:170032916 GRCh38: Chr2:169176406	LRP2		not provided, Donnai-Barrow syndrome	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 169625210.	NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu) GRCh37: Chr2:170059334 GRCh38: Chr2:169202824	LRP2	S2714L	not provided, not specified, Donnai-Barrow syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168452311.	NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr) GRCh37: Chr2:170096150 GRCh38: Chr2:169239640	LRP2	C1394Y	Donnai-Barrow syndrome, not provided	Uncertain significance (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168428112.	NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu) GRCh37: Chr2:170044578 GRCh38: Chr2:169188068	LRP2	P3077L	Donnai-Barrow syndrome	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 168428013.	NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala) GRCh37: Chr2:170099525 GRCh38: Chr2:169243015	LRP2	V1203A	Donnai-Barrow syndrome	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 167971414.	NM_004525.3(LRP2):c.1709G>A (p.Arg570His) GRCh37: Chr2:170134318 GRCh38: Chr2:169277808	LRP2	R570H	Donnai-Barrow syndrome, Inborn genetic diseases	Uncertain significance (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167971315.	NM_004525.3(LRP2):c.2263A>G (p.Ile755Val) GRCh37: Chr2:170127471 GRCh38: Chr2:169270961	LRP2	I755V	Donnai-Barrow syndrome	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 167711316.	NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del GRCh37: Chr2:170034537-170076963	LRP2		Donnai-Barrow syndrome	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 167011017.	NM_004525.3(LRP2):c.80-14_80-11del GRCh37: Chr2:170177405-170177408 GRCh38: Chr2:169320895-169320898	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166782318.	NM_004525.3(LRP2):c.7926T>G (p.Thr2642=) GRCh37: Chr2:170060571 GRCh38: Chr2:169204061	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166732619.	NM_004525.3(LRP2):c.923-19del GRCh37: Chr2:170145674 GRCh38: Chr2:169289164	LRP2		Donnai-Barrow syndrome, not provided	Benign/Likely benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166716920.	NM_004525.3(LRP2):c.11451C>T (p.Cys3817=) GRCh37: Chr2:170026258 GRCh38: Chr2:169169748	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166401521.	NM_004525.3(LRP2):c.1593C>T (p.Ser531=) GRCh37: Chr2:170134434 GRCh38: Chr2:169277924	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Nov 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 166001522.	NM_004525.3(LRP2):c.10155C>T (p.His3385=) GRCh37: Chr2:170037972 GRCh38: Chr2:169181462	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165935723.	NM_004525.3(LRP2):c.1042+19C>T GRCh37: Chr2:170145517 GRCh38: Chr2:169289007	LRP2		not provided, Donnai-Barrow syndrome	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165669824.	NM_004525.3(LRP2):c.8508T>G (p.Ile2836Met) GRCh37: Chr2:170055366 GRCh38: Chr2:169198856	LRP2	I2836M	not provided	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 165519125.	NM_004525.3(LRP2):c.652+14T>G GRCh37: Chr2:170150644 GRCh38: Chr2:169294134	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165432526.	NM_004525.3(LRP2):c.2076A>G (p.Thr692=) GRCh37: Chr2:170129477 GRCh38: Chr2:169272967	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165319627.	NM_004525.3(LRP2):c.7878G>A (p.Gln2626=) GRCh37: Chr2:170060619 GRCh38: Chr2:169204109	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165254128.	NM_004525.3(LRP2):c.13268-14A>G GRCh37: Chr2:169995895 GRCh38: Chr2:169139385	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165223529.	NM_004525.3(LRP2):c.12988+18T>C GRCh37: Chr2:170002239 GRCh38: Chr2:169145729	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165216830.	NM_004525.3(LRP2):c.1342-13G>A GRCh37: Chr2:170136118 GRCh38: Chr2:169279608	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165004031.	NM_004525.3(LRP2):c.11635+17C>T GRCh37: Chr2:170025032 GRCh38: Chr2:169168522	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164947932.	NM_004525.3(LRP2):c.13830T>G (p.Ala4610=) GRCh37: Chr2:169985311 GRCh38: Chr2:169128801	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164844633.	NM_004525.3(LRP2):c.975G>A (p.Pro325=) GRCh37: Chr2:170145603 GRCh38: Chr2:169289093	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164842234.	NM_004525.3(LRP2):c.12461+20C>T GRCh37: Chr2:170009289 GRCh38: Chr2:169152779	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164602335.	NM_004525.3(LRP2):c.13880C>T (p.Ser4627Leu) GRCh37: Chr2:169985261 GRCh38: Chr2:169128751	LRP2	S4627L	not provided, Donnai-Barrow syndrome	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 164587736.	NM_004525.3(LRP2):c.13519-40CT[8] GRCh37: Chr2:169994022-169994027 GRCh38: Chr2:169137512-169137517	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164477037.	NM_004525.3(LRP2):c.4691+16A>T GRCh37: Chr2:170093597 GRCh38: Chr2:169237087	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164425738.	NM_004525.3(LRP2):c.1043-19T>C GRCh37: Chr2:170139530 GRCh38: Chr2:169283020	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164291339.	NM_004525.3(LRP2):c.4755C>T (p.Asp1585=) GRCh37: Chr2:170092515 GRCh38: Chr2:169236005	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164290840.	NM_004525.3(LRP2):c.4294+20G>A GRCh37: Chr2:170096017 GRCh38: Chr2:169239507	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164084741.	NM_004525.3(LRP2):c.8578+19C>T GRCh37: Chr2:170055277 GRCh38: Chr2:169198767	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164037742.	NM_004525.3(LRP2):c.10572-13G>A GRCh37: Chr2:170031912 GRCh38: Chr2:169175402	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163812843.	NM_004525.3(LRP2):c.3191-17G>A GRCh37: Chr2:170101459 GRCh38: Chr2:169244949	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163766844.	NM_004525.3(LRP2):c.13108+12G>A GRCh37: Chr2:169999172 GRCh38: Chr2:169142662	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163317545.	NM_004525.3(LRP2):c.4524C>T (p.Ile1508=) GRCh37: Chr2:170093780 GRCh38: Chr2:169237270	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163302146.	NM_004525.3(LRP2):c.80-13T>C GRCh37: Chr2:170177407 GRCh38: Chr2:169320897	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162540647.	NM_004525.3(LRP2):c.7716-13del GRCh37: Chr2:170060794 GRCh38: Chr2:169204284	LRP2		Donnai-Barrow syndrome, not provided	Benign/Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162456548.	NM_004525.3(LRP2):c.1186A>G (p.Ile396Val) GRCh37: Chr2:170137015 GRCh38: Chr2:169280505	LRP2	I396V	not provided, Inborn genetic diseases, Donnai-Barrow syndrome	Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161795949.	NM_004525.3(LRP2):c.427+18C>T GRCh37: Chr2:170163773 GRCh38: Chr2:169307263	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161409650.	NM_004525.3(LRP2):c.10314A>G (p.Gly3438=) GRCh37: Chr2:170034392 GRCh38: Chr2:169177882	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161394251.	NM_004525.3(LRP2):c.13519-40CT[7] GRCh37: Chr2:169994022-169994029 GRCh38: Chr2:169137512-169137519	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161119452.	NM_004525.3(LRP2):c.13620+16G>A GRCh37: Chr2:169993886 GRCh38: Chr2:169137376	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160994553.	NM_004525.3(LRP2):c.8831-16C>T GRCh37: Chr2:170048559 GRCh38: Chr2:169192049	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160510654.	NM_004525.3(LRP2):c.13137C>G (p.Pro4379=) GRCh37: Chr2:169997027 GRCh38: Chr2:169140517	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160043755.	NM_004525.3(LRP2):c.2117-20C>T GRCh37: Chr2:170127637 GRCh38: Chr2:169271127	LRP2		not provided, Donnai-Barrow syndrome	Benign/Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159876756.	NM_004525.3(LRP2):c.7716-13dup GRCh37: Chr2:170060793-170060794 GRCh38: Chr2:169204283-169204284	LRP2		Donnai-Barrow syndrome, not provided	Benign/Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159737057.	NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile) GRCh37: Chr2:170072903 GRCh38: Chr2:169216393	LRP2	V1896I	not provided, Donnai-Barrow syndrome	Conflicting interpretations of pathogenicity (Jul 21, 2022)	criteria provided, conflicting interpretations
Select item 159721458.	NM_004525.3(LRP2):c.9312C>T (p.Ser3104=) GRCh37: Chr2:170044496 GRCh38: Chr2:169187986	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159708159.	NM_004525.3(LRP2):c.8505T>C (p.Cys2835=) GRCh37: Chr2:170055369 GRCh38: Chr2:169198859	LRP2		Donnai-Barrow syndrome, not provided	Benign/Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159520260.	NM_004525.3(LRP2):c.3312C>T (p.His1104=) GRCh37: Chr2:170101321 GRCh38: Chr2:169244811	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159486961.	NM_004525.3(LRP2):c.246C>T (p.Pro82=) GRCh37: Chr2:170175336 GRCh38: Chr2:169318826	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159396362.	NM_004525.3(LRP2):c.378G>A (p.Arg126=) GRCh37: Chr2:170163840 GRCh38: Chr2:169307330	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159201863.	NM_004525.3(LRP2):c.9876T>C (p.Asp3292=) GRCh37: Chr2:170038799 GRCh38: Chr2:169182289	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159023664.	NM_004525.3(LRP2):c.12330T>A (p.Ser4110=) GRCh37: Chr2:170009440 GRCh38: Chr2:169152930	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158803165.	NM_004525.3(LRP2):c.11985C>T (p.Phe3995=) GRCh37: Chr2:170013915 GRCh38: Chr2:169157405	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158362766.	NM_004525.3(LRP2):c.5535C>A (p.Ile1845=) GRCh37: Chr2:170081823 GRCh38: Chr2:169225313	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158289067.	NM_004525.3(LRP2):c.6281-7C>A GRCh37: Chr2:170066158 GRCh38: Chr2:169209648	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158118868.	NM_004525.3(LRP2):c.13363T>C (p.Leu4455=) GRCh37: Chr2:169995786 GRCh38: Chr2:169139276	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158042769.	NM_004525.3(LRP2):c.10413C>T (p.Thr3471=) GRCh37: Chr2:170033079 GRCh38: Chr2:169176569	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157921970.	NM_004525.3(LRP2):c.428-18_428-8del GRCh37: Chr2:170151228-170151238 GRCh38: Chr2:169294718-169294728	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157781971.	NM_004525.3(LRP2):c.3333C>T (p.Asp1111=) GRCh37: Chr2:170101300 GRCh38: Chr2:169244790	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157523672.	NM_004525.3(LRP2):c.2909-19C>T GRCh37: Chr2:170103515 GRCh38: Chr2:169247005	LRP2		not provided, Donnai-Barrow syndrome	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157494373.	NM_004525.3(LRP2):c.80-10A>G GRCh37: Chr2:170177404 GRCh38: Chr2:169320894	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157114574.	NM_004525.3(LRP2):c.7515C>T (p.Arg2505=) GRCh37: Chr2:170062574 GRCh38: Chr2:169206064	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156828775.	NM_004525.3(LRP2):c.1975+19G>A GRCh37: Chr2:170131527 GRCh38: Chr2:169275017	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156803476.	NM_004525.3(LRP2):c.1827A>G (p.Leu609=) GRCh37: Chr2:170131694 GRCh38: Chr2:169275184	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156613977.	NM_004525.3(LRP2):c.13305C>T (p.Val4435=) GRCh37: Chr2:169995844 GRCh38: Chr2:169139334	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156442878.	NM_004525.3(LRP2):c.8005+14C>A GRCh37: Chr2:170060478 GRCh38: Chr2:169203968	LRP2		not provided, Donnai-Barrow syndrome	Benign/Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156311479.	NM_004525.3(LRP2):c.13519-18T>C GRCh37: Chr2:169994021 GRCh38: Chr2:169137511	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155995480.	NM_004525.3(LRP2):c.6057A>G (p.Ser2019=) GRCh37: Chr2:170068701 GRCh38: Chr2:169212191	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155924881.	NM_004525.3(LRP2):c.770-5C>A GRCh37: Chr2:170147512 GRCh38: Chr2:169291002	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154823982.	NM_004525.3(LRP2):c.1042+20G>A GRCh37: Chr2:170145516 GRCh38: Chr2:169289006	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154328983.	NM_004525.3(LRP2):c.13410C>T (p.Pro4470=) GRCh37: Chr2:169995195 GRCh38: Chr2:169138685	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154295984.	NM_004525.3(LRP2):c.12989-10C>T GRCh37: Chr2:169999313 GRCh38: Chr2:169142803	LRP2		Donnai-Barrow syndrome, not provided	Likely benign (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154237985.	NM_004525.3(LRP2):c.13728+12C>T GRCh37: Chr2:169989072 GRCh38: Chr2:169132562	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153799786.	NM_004525.3(LRP2):c.3123T>C (p.Asn1041=) GRCh37: Chr2:170103282 GRCh38: Chr2:169246772	LRP2		not provided, Donnai-Barrow syndrome	Likely benign (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152614487.	NM_004525.3(LRP2):c.8244T>A (p.Cys2748Ter) GRCh37: Chr2:170058346 GRCh38: Chr2:169201836	LRP2	C2748*	Donnai-Barrow syndrome	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 152531788.	NM_004525.3(LRP2):c.8123C>T (p.Ser2708Phe) GRCh37: Chr2:170059352 GRCh38: Chr2:169202842	LRP2	S2708F	not provided, Donnai-Barrow syndrome	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152462289.	NM_004525.3(LRP2):c.6785G>T (p.Arg2262Leu) GRCh37: Chr2:170063445 GRCh38: Chr2:169206935	LRP2	R2262L	not provided, Donnai-Barrow syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152454290.	NM_004525.3(LRP2):c.2930C>A (p.Pro977His) GRCh37: Chr2:170103475 GRCh38: Chr2:169246965	LRP2	P977H	not provided, Donnai-Barrow syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152206191.	NM_004525.3(LRP2):c.13238C>T (p.Ala4413Val) GRCh37: Chr2:169996082 GRCh38: Chr2:169139572	LRP2	A4413V	Donnai-Barrow syndrome, not provided	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152181792.	NM_004525.3(LRP2):c.2455C>T (p.Arg819Cys) GRCh37: Chr2:170115593 GRCh38: Chr2:169259083	LRP2	R819C	Donnai-Barrow syndrome, not provided, Inborn genetic diseases	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152148493.	NM_004525.3(LRP2):c.3794C>T (p.Ala1265Val) GRCh37: Chr2:170097749 GRCh38: Chr2:169241239	LRP2	A1265V	not provided, Donnai-Barrow syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152080994.	NM_004525.3(LRP2):c.11590G>A (p.Asp3864Asn) GRCh37: Chr2:170025094 GRCh38: Chr2:169168584	LRP2	D3864N	Donnai-Barrow syndrome, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151994195.	NM_004525.3(LRP2):c.188C>T (p.Ala63Val) GRCh37: Chr2:170175394 GRCh38: Chr2:169318884	LRP2	A63V	not provided, Donnai-Barrow syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151974696.	NM_004525.3(LRP2):c.11014+4A>C GRCh37: Chr2:170030425 GRCh38: Chr2:169173915	LRP2		not provided, Donnai-Barrow syndrome	Uncertain significance (Sep 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151741897.	NM_004525.3(LRP2):c.13433C>T (p.Thr4478Ile) GRCh37: Chr2:169995172 GRCh38: Chr2:169138662	LRP2	T4478I	not provided, Donnai-Barrow syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151613398.	NM_004525.3(LRP2):c.22G>A (p.Val8Met) GRCh37: Chr2:170218888 GRCh38: Chr2:169362378	LRP2	V8M	not provided, Donnai-Barrow syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151446299.	NM_004525.3(LRP2):c.573C>T (p.Gly191=) GRCh37: Chr2:170150737 GRCh38: Chr2:169294227	LRP2		not provided, Donnai-Barrow syndrome	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 1512082100.	NM_004525.3(LRP2):c.10398C>A (p.Ser3466Arg) GRCh37: Chr2:170033094 GRCh38: Chr2:169176584	LRP2	S3466R	not provided, Donnai-Barrow syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts

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