ClinVar for MedGen (Select 414168) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26279791.	NM_015311.3(OBSL1):c.1941G>T (p.Trp647Cys) GRCh37: Chr2:220431745 GRCh38: Chr2:219567023	OBSL1	W647C	3M syndrome 2	Uncertain significance	criteria provided, single submitter
Select item 25725842.	NM_015311.3(OBSL1):c.1260dup (p.Val421fs) GRCh37: Chr2:220432798-220432799 GRCh38: Chr2:219568076-219568077	OBSL1	V421fs	3M syndrome 2	Pathogenic	criteria provided, single submitter
Select item 24980793.	NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs) GRCh37: Chr2:220416377-220416378 GRCh38: Chr2:219551655-219551656	OBSL1	K1853fs	3M syndrome 2	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 24344814.	NM_015311.3(OBSL1):c.3892G>A (p.Gly1298Ser) GRCh37: Chr2:220422239 GRCh38: Chr2:219557517	OBSL1	G1298S	3M syndrome 2, Inborn genetic diseases	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24292545.	NM_015311.3(OBSL1):c.3506_3509dup (p.Val1171fs) GRCh37: Chr2:220422825-220422826 GRCh38: Chr2:219558103-219558104	OBSL1	V1171fs	3M syndrome 2	Likely pathogenic (Jan 1, 2023)	criteria provided, single submitter
Select item 24292536.	NM_015311.3(OBSL1):c.2608C>T (p.Gln870Ter) GRCh37: Chr2:220428149 GRCh38: Chr2:219563427	OBSL1	Q870*	3M syndrome 2	Likely pathogenic (Jan 4, 2023)	criteria provided, single submitter
Select item 18783587.	NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs) GRCh37: Chr2:220422717-220422732 GRCh38: Chr2:219557995-219558010	OBSL1	P1203fs	3M syndrome 2	Likely pathogenic (Dec 21, 2022)	criteria provided, single submitter
Select item 17233248.	NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs) GRCh37: Chr2:220435034 GRCh38: Chr2:219570312	OBSL1	Y308fs	3M syndrome 2	Likely pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 17054649.	NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer) GRCh37: Chr2:220430050-220430051 GRCh38: Chr2:219565328-219565329	OBSL1		3M syndrome 2	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170525210.	NM_015311.3(OBSL1):c.427dup (p.Ala143fs) GRCh37: Chr2:220435527-220435528 GRCh38: Chr2:219570805-219570806	OBSL1	A143fs	3M syndrome 2	Likely pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 168728011.	NM_015311.3(OBSL1):c.1068_1075dup (p.Val359fs) GRCh37: Chr2:220432983-220432984 GRCh38: Chr2:219568261-219568262	OBSL1	V359fs	3M syndrome 2	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 133321712.	NM_015311.3(OBSL1):c.458dup (p.Leu154fs) GRCh37: Chr2:220435496-220435497 GRCh38: Chr2:219570774-219570775	OBSL1	L154fs	OBSL1-related condition, not provided, 3M syndrome 2	Pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 133137613.	NM_015311.3(OBSL1):c.5590dup (p.Ser1864fs) GRCh37: Chr2:220416343-220416344 GRCh38: Chr2:219551621-219551622	OBSL1	S1864fs	3M syndrome 2	Likely pathogenic (Apr 18, 2023)	criteria provided, single submitter
Select item 132482514.	NM_015311.3(OBSL1):c.4085del (p.Leu1362fs) GRCh37: Chr2:220421427 GRCh38: Chr2:219556705	OBSL1	L1362fs	3M syndrome 2	Likely pathogenic (Aug 1, 2019)	criteria provided, single submitter
Select item 127642215.	NM_015311.3(OBSL1):c.5684-37TC[2] GRCh37: Chr2:220415596-220415597 GRCh38: Chr2:219550874-219550875	OBSL1		3M syndrome 2, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 126633316.	NM_015311.3(OBSL1):c.5309-29G>A GRCh37: Chr2:220416967 GRCh38: Chr2:219552245	OBSL1		3M syndrome 2, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 126135617.	NM_015311.3(OBSL1):c.5413+31T>A GRCh37: Chr2:220416803 GRCh38: Chr2:219552081	OBSL1		not provided, 3M syndrome 2	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125528518.	NM_015311.3(OBSL1):c.4067-34T>C GRCh37: Chr2:220421479 GRCh38: Chr2:219556757	OBSL1		3M syndrome 2, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124247519.	NM_015311.3(OBSL1):c.2681-33del GRCh37: Chr2:220427429 GRCh38: Chr2:219562707	OBSL1		3M syndrome 2, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123617220.	NM_015311.3(OBSL1):c.2164del (p.Asp722fs) GRCh37: Chr2:220430207 GRCh38: Chr2:219565485	OBSL1	D722fs	3M syndrome 2	Pathogenic	criteria provided, single submitter
Select item 122651021.	NM_015311.3(OBSL1):c.2408-32T>A GRCh37: Chr2:220428381 GRCh38: Chr2:219563659	OBSL1		not provided, 3M syndrome 2	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117489522.	NM_015311.3(OBSL1):c.1283-18T>A GRCh37: Chr2:220432709 GRCh38: Chr2:219567987	OBSL1		not provided, 3M syndrome 2	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116778823.	NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser) GRCh37: Chr2:220428179-220428180 GRCh38: Chr2:219563457-219563458	OBSL1	P860S	not provided, 3M syndrome 2	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103334624.	NM_015311.3(OBSL1):c.2327C>G (p.Pro776Arg) GRCh37: Chr2:220430044 GRCh38: Chr2:219565322	OBSL1	P776R	3M syndrome 2	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 103048825.	NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp) GRCh37: Chr2:220422137 GRCh38: Chr2:219557415	OBSL1	R1332W	Inborn genetic diseases, not provided, 3M syndrome 2	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101827026.	NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter) GRCh37: Chr2:220420931 GRCh38: Chr2:219556209	OBSL1	R1474*	3M syndrome 2, not specified, not provided	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101146427.	NM_015311.3(OBSL1):c.3292C>T (p.Arg1098Cys) GRCh37: Chr2:220423116 GRCh38: Chr2:219558394	OBSL1	R1098C	not provided, 3M syndrome 2	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99803528.	NM_015311.3(OBSL1):c.[1273dup;836G>A] GRCh37: Chr2:220432785-220432786 Chr2:220435119 GRCh38: Chr2:219568063-219568064 Chr2:219570397	OBSL1, OBSL1	T425fs, W279*	3M syndrome 2	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 97685729.	NM_015311.3(OBSL1):c.35dup (p.Cys13fs) GRCh37: Chr2:220435919-220435920 GRCh38: Chr2:219571197-219571198	OBSL1	C13fs	3M syndrome 2, not provided	Pathogenic/Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93150130.	NM_015311.3(OBSL1):c.2635del (p.Cys879fs) GRCh37: Chr2:220428122 GRCh38: Chr2:219563400	OBSL1	C879fs	3M syndrome 2	Likely pathogenic (Feb 25, 2019)	criteria provided, single submitter
Select item 91653931.	NM_015311.3(OBSL1):c.[1273dup];[35dup]			3M syndrome 2	Pathogenic (Apr 14, 2020)	criteria provided, single submitter
Select item 89901532.	NM_015311.3(OBSL1):c.765C>T (p.Phe255=) GRCh37: Chr2:220435190 GRCh38: Chr2:219570468	OBSL1		3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89901433.	NM_015311.3(OBSL1):c.907G>A (p.Val303Met) GRCh37: Chr2:220435048 GRCh38: Chr2:219570326	OBSL1	V303M	3M syndrome 2	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89894334.	NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) GRCh37: Chr2:220432531 GRCh38: Chr2:219567809	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 89894235.	NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) GRCh37: Chr2:220432169 GRCh38: Chr2:219567447	OBSL1	R555W	not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 89894136.	NM_015311.3(OBSL1):c.1733C>T (p.Pro578Leu) GRCh37: Chr2:220432099 GRCh38: Chr2:219567377	OBSL1	P578L	3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89887837.	NM_015311.3(OBSL1):c.2498G>A (p.Arg833Gln) GRCh37: Chr2:220428259 GRCh38: Chr2:219563537	OBSL1	R833Q	Inborn genetic diseases, 3M syndrome 2	Uncertain significance (Apr 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89887738.	NM_015311.3(OBSL1):c.2638G>A (p.Val880Ile) GRCh37: Chr2:220428119 GRCh38: Chr2:219563397	OBSL1	V880I	not provided, 3M syndrome 2	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89881239.	NM_015311.3(OBSL1):c.3575T>C (p.Val1192Ala) GRCh37: Chr2:220422760 GRCh38: Chr2:219558038	OBSL1	V1192A	3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89881140.	NM_015311.3(OBSL1):c.3591G>C (p.Leu1197=) GRCh37: Chr2:220422744 GRCh38: Chr2:219558022	OBSL1		3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89881041.	NM_015311.3(OBSL1):c.3682C>G (p.Arg1228Gly) GRCh37: Chr2:220422653 GRCh38: Chr2:219557931	OBSL1	R1228G	3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89874642.	NM_015311.3(OBSL1):c.4152C>T (p.Ser1384=) GRCh37: Chr2:220421360 GRCh38: Chr2:219556638	OBSL1		3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89874543.	NM_015311.3(OBSL1):c.4183A>G (p.Asn1395Asp) GRCh37: Chr2:220421329 GRCh38: Chr2:219556607	OBSL1	N1395D	3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89874444.	NM_015311.3(OBSL1):c.4194C>A (p.Val1398=) GRCh37: Chr2:220421318 GRCh38: Chr2:219556596	OBSL1		3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89874345.	NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu) GRCh37: Chr2:220421310 GRCh38: Chr2:219556588	OBSL1	P1401L	not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 89868346.	NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met) GRCh37: Chr2:220417323 GRCh38: Chr2:219552601	OBSL1	T1748M	Inborn genetic diseases, not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Feb 22, 2023)	criteria provided, conflicting interpretations
Select item 89868247.	NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg) GRCh37: Chr2:220417321 GRCh38: Chr2:219552599	OBSL1	G1749R	not provided, Inborn genetic diseases, 3M syndrome 2	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89794948.	NM_015311.3(OBSL1):c.-73C>T GRCh37: Chr2:220436027 GRCh38: Chr2:219571305	OBSL1		3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89794849.	NM_015311.3(OBSL1):c.-59C>T GRCh37: Chr2:220436013 GRCh38: Chr2:219571291	OBSL1		3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89794750.	NM_015311.3(OBSL1):c.-51A>T GRCh37: Chr2:220436005 GRCh38: Chr2:219571283	OBSL1		3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89794651.	NM_015311.3(OBSL1):c.-35C>A GRCh37: Chr2:220435989 GRCh38: Chr2:219571267	OBSL1		3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89794552.	NM_015311.3(OBSL1):c.-21T>C GRCh37: Chr2:220435975 GRCh38: Chr2:219571253	OBSL1		3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89794453.	NM_015311.3(OBSL1):c.-12T>C GRCh37: Chr2:220435966 GRCh38: Chr2:219571244	OBSL1		3M syndrome 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89787054.	NM_015311.3(OBSL1):c.993C>T (p.Ala331=) GRCh37: Chr2:220434962 GRCh38: Chr2:219570240	OBSL1		3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89786955.	NM_015311.3(OBSL1):c.1077G>A (p.Val359=) GRCh37: Chr2:220432982 GRCh38: Chr2:219568260	OBSL1		3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89786856.	NM_015311.3(OBSL1):c.1136G>A (p.Arg379Gln) GRCh37: Chr2:220432923 GRCh38: Chr2:219568201	OBSL1	R379Q	3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89779657.	NM_015311.3(OBSL1):c.1850G>T (p.Arg617Leu) GRCh37: Chr2:220431836 GRCh38: Chr2:219567114	OBSL1	R617L	Inborn genetic diseases, 3M syndrome 2	Uncertain significance (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89779558.	NM_015311.3(OBSL1):c.1911C>G (p.Leu637=) GRCh37: Chr2:220431775 GRCh38: Chr2:219567053	OBSL1		3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89772759.	NM_015311.3(OBSL1):c.2706C>T (p.Pro902=) GRCh37: Chr2:220427371 GRCh38: Chr2:219562649	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 89772660.	NM_015311.3(OBSL1):c.2731G>A (p.Val911Met) GRCh37: Chr2:220427346 GRCh38: Chr2:219562624	OBSL1	V911M	not provided, 3M syndrome 2	Uncertain significance (Dec 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89772561.	NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly) GRCh37: Chr2:220427286 GRCh38: Chr2:219562564	OBSL1	W931G	not provided, Inborn genetic diseases, 3M syndrome 2	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89772462.	NM_015311.3(OBSL1):c.2858G>A (p.Arg953His) GRCh37: Chr2:220427219 GRCh38: Chr2:219562497	OBSL1	R953H	3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89764863.	NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) GRCh37: Chr2:220422292 GRCh38: Chr2:219557570	OBSL1	R1280Q	3M syndrome 2, not provided	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 89764764.	NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg) GRCh37: Chr2:220422278 GRCh38: Chr2:219557556	OBSL1	G1285R	not provided, 3M syndrome 2, Inborn genetic diseases	Uncertain significance (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89758765.	NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) GRCh37: Chr2:220420932 GRCh38: Chr2:219556210	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Aug 2, 2022)	criteria provided, conflicting interpretations
Select item 89758666.	NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) GRCh37: Chr2:220420922 GRCh38: Chr2:219556200	OBSL1	A1477T	not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Dec 27, 2022)	criteria provided, conflicting interpretations
Select item 89753067.	NM_015311.3(OBSL1):c.5308+12T>G GRCh37: Chr2:220417246 GRCh38: Chr2:219552524	LOC129935660, OBSL1		3M syndrome 2, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89752968.	NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=) GRCh37: Chr2:220416447 GRCh38: Chr2:219551725	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 89752869.	NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=) GRCh37: Chr2:220416341 GRCh38: Chr2:219551619	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Jun 30, 2021)	criteria provided, conflicting interpretations
Select item 89632570.	NM_015311.3(OBSL1):c.46C>A (p.Arg16Ser) GRCh37: Chr2:220435909 GRCh38: Chr2:219571187	OBSL1	R16S	3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89632471.	NM_015311.3(OBSL1):c.142G>A (p.Gly48Ser) GRCh37: Chr2:220435813 GRCh38: Chr2:219571091	OBSL1	G48S	not provided, 3M syndrome 2	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89632372.	NM_015311.3(OBSL1):c.202G>A (p.Gly68Ser) GRCh37: Chr2:220435753 GRCh38: Chr2:219571031	OBSL1	G68S	not provided, 3M syndrome 2	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89632273.	NM_015311.3(OBSL1):c.268G>A (p.Ala90Thr) GRCh37: Chr2:220435687 GRCh38: Chr2:219570965	OBSL1	A90T	not provided, 3M syndrome 2	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89626374.	NM_015311.3(OBSL1):c.1151G>C (p.Arg384Pro) GRCh37: Chr2:220432908 GRCh38: Chr2:219568186	OBSL1	R384P	3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89626275.	NM_015311.3(OBSL1):c.1167C>T (p.Ile389=) GRCh37: Chr2:220432892 GRCh38: Chr2:219568170	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 89626176.	NM_015311.3(OBSL1):c.1195A>G (p.Ile399Val) GRCh37: Chr2:220432864 GRCh38: Chr2:219568142	OBSL1	I399V	3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89626077.	NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His) GRCh37: Chr2:220432831 GRCh38: Chr2:219568109	OBSL1	Y410H	3M syndrome 2, not provided	Conflicting interpretations of pathogenicity (Mar 14, 2022)	criteria provided, conflicting interpretations
Select item 89625978.	NM_015311.3(OBSL1):c.1237G>A (p.Glu413Lys) GRCh37: Chr2:220432822 GRCh38: Chr2:219568100	OBSL1	E413K	3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89619579.	NM_015311.3(OBSL1):c.1966A>G (p.Ser656Gly) GRCh37: Chr2:220431720 GRCh38: Chr2:219566998	OBSL1	S656G	3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89619480.	NM_015311.3(OBSL1):c.2103C>T (p.Gly701=) GRCh37: Chr2:220431583 GRCh38: Chr2:219566861	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 89619381.	NM_015311.3(OBSL1):c.2104G>A (p.Val702Met) GRCh37: Chr2:220431582 GRCh38: Chr2:219566860	OBSL1	V702M	not provided, 3M syndrome 2	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89613082.	NM_015311.3(OBSL1):c.2896G>A (p.Gly966Ser) GRCh37: Chr2:220427181 GRCh38: Chr2:219562459	OBSL1	G966S	not provided, 3M syndrome 2	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89612983.	NM_015311.3(OBSL1):c.2977C>T (p.Pro993Ser) GRCh37: Chr2:220424196 GRCh38: Chr2:219559474	OBSL1	P993S	3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89612884.	NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=) GRCh37: Chr2:220424095 GRCh38: Chr2:219559373	OBSL1		not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 89612785.	NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys) GRCh37: Chr2:220424046 GRCh38: Chr2:219559324	OBSL1	R1043C	Inborn genetic diseases, not provided, 3M syndrome 2	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89605986.	NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) GRCh37: Chr2:220422151 GRCh38: Chr2:219557429	OBSL1	R1327Q	Inborn genetic diseases, not provided, 3M syndrome 2	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89605887.	NM_015311.3(OBSL1):c.4018C>T (p.Leu1340=) GRCh37: Chr2:220422113 GRCh38: Chr2:219557391	OBSL1		3M syndrome 2	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89598788.	NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His) GRCh37: Chr2:220420867 GRCh38: Chr2:219556145	OBSL1	R1495H	Inborn genetic diseases, not provided, 3M syndrome 2	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89598689.	NM_015311.3(OBSL1):c.4609+12G>A GRCh37: Chr2:220420730 GRCh38: Chr2:219556008	OBSL1	V1541I	not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 89598590.	NM_015311.3(OBSL1):c.4610-6G>A GRCh37: Chr2:220419468 GRCh38: Chr2:219554746	OBSL1		not provided, 3M syndrome 2	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89591491.	NM_015311.3(OBSL1):c.2349T>A (p.Ser783Arg) GRCh37: Chr2:220430022 GRCh38: Chr2:219565300	OBSL1	S783R	3M syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89591392.	NM_015311.3(OBSL1):c.2392G>A (p.Gly798Ser) GRCh37: Chr2:220429979 GRCh38: Chr2:219565257	OBSL1	G798S	Inborn genetic diseases, not provided, 3M syndrome 2	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 89591293.	NM_015311.3(OBSL1):c.2407+11A>G GRCh37: Chr2:220429953 GRCh38: Chr2:219565231	OBSL1		not specified, 3M syndrome 2, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2023)	criteria provided, conflicting interpretations
Select item 89585394.	NM_015311.3(OBSL1):c.3275A>G (p.His1092Arg) GRCh37: Chr2:220423133 GRCh38: Chr2:219558411	OBSL1	H1092R	not provided, Inborn genetic diseases, 3M syndrome 2	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89585295.	NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) GRCh37: Chr2:220423053 GRCh38: Chr2:219558331	OBSL1		3M syndrome 2, not provided	Uncertain significance (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89585196.	NM_015311.3(OBSL1):c.3415A>C (p.Thr1139Pro) GRCh37: Chr2:220422993 GRCh38: Chr2:219558271	OBSL1	T1139P	3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89577697.	NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met) GRCh37: Chr2:220421379 GRCh38: Chr2:219556657	OBSL1	T1378M	3M syndrome 2, Inborn genetic diseases, not provided	Uncertain significance (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 89570298.	NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) GRCh37: Chr2:220419222 GRCh38: Chr2:219554500	OBSL1	R1617H	not provided, 3M syndrome 2	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89570199.	NM_015311.3(OBSL1):c.4950C>T (p.Cys1650=) GRCh37: Chr2:220418335 GRCh38: Chr2:219553613	OBSL1		3M syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 894884100.	NM_015311.3(OBSL1):c.367T>C (p.Ser123Pro) GRCh37: Chr2:220435588 GRCh38: Chr2:219570866	OBSL1	S123P	3M syndrome 2, not provided, Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts

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