ClinVar for MedGen (Select 120516) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791221.	NM_002470.4(MYH3):c.2096T>A (p.Val699Asp) GRCh37: Chr17:10544471 GRCh38: Chr17:10641154	MYH3	V699D	Freeman-Sheldon syndrome	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 25750602.	NM_002470.4(MYH3):c.703A>G (p.Lys235Glu) GRCh37: Chr17:10551906 GRCh38: Chr17:10648589	MYH3	K235E	Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Freeman-Sheldon syndrome	Likely pathogenic (Jul 20, 2023)	criteria provided, single submitter
Select item 24981383.	NM_002470.4(MYH3):c.3247_3248+1del GRCh37: Chr17:10542360-10542362 GRCh38: Chr17:10639043-10639045	MYH3		Freeman-Sheldon syndrome	Likely pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 13358124.	NM_002470.4(MYH3):c.2305G>A (p.Gly769Ser) GRCh37: Chr17:10543771 GRCh38: Chr17:10640454	MYH3	G769S	Freeman-Sheldon syndrome	Uncertain significance (Jan 6, 2022)	no assertion criteria provided
Select item 12625635.	NM_002470.4(MYH3):c.643-43dup GRCh37: Chr17:10552000-10552001 GRCh38: Chr17:10648683-10648684	MYH3		Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B, not provided, Freeman-Sheldon syndrome, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12221806.	NM_002470.4(MYH3):c.2682+30_2682+31del GRCh37: Chr17:10543282-10543283 GRCh38: Chr17:10639965-10639966	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10645747.	NM_002470.4(MYH3):c.356C>T (p.Ser119Leu) GRCh37: Chr17:10554978 GRCh38: Chr17:10651661	MYH3	S119L	Freeman-Sheldon syndrome	Uncertain significance (Feb 1, 2021)	criteria provided, single submitter
Select item 10305608.	NM_002470.4(MYH3):c.2767G>T (p.Val923Leu) GRCh37: Chr17:10543035 GRCh38: Chr17:10639718	MYH3	V923L	not provided, Freeman-Sheldon syndrome	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9738829.	NM_002470.4(MYH3):c.2891A>G (p.Lys964Arg) GRCh37: Chr17:10542911 GRCh38: Chr17:10639594	MYH3	K964R	Freeman-Sheldon syndrome, Arthrogryposis, distal, type 2B3	Uncertain significance (Apr 3, 2020)	criteria provided, single submitter
Select item 89249610.	NM_002470.4(MYH3):c.2523C>T (p.Leu841=) GRCh37: Chr17:10543472 GRCh38: Chr17:10640155	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 89174811.	NM_002470.4(MYH3):c.297G>A (p.Glu99=) GRCh37: Chr17:10555788 GRCh38: Chr17:10652471	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89174712.	NM_002470.4(MYH3):c.298C>T (p.Pro100Ser) GRCh37: Chr17:10555787 GRCh38: Chr17:10652470	MYH3	P100S	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 89174613.	NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys) GRCh37: Chr17:10555738 GRCh38: Chr17:10652421	MYH3	Y116C	not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Apr 25, 2022)	criteria provided, conflicting interpretations
Select item 89161414.	NM_002470.4(MYH3):c.1881G>A (p.Thr627=) GRCh37: Chr17:10545741 GRCh38: Chr17:10642424	MYH3		not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Aug 3, 2022)	criteria provided, conflicting interpretations
Select item 89142215.	NM_002470.4(MYH3):c.1130A>G (p.Asp377Gly) GRCh37: Chr17:10549035 GRCh38: Chr17:10645718	MYH3	D377G	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89129916.	NM_002470.4(MYH3):c.2716T>A (p.Cys906Ser) GRCh37: Chr17:10543086 GRCh38: Chr17:10639769	MYH3	C906S	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88994017.	NM_002470.4(MYH3):c.505+12A>G GRCh37: Chr17:10554817 GRCh38: Chr17:10651500	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 88993918.	NM_002470.4(MYH3):c.509G>A (p.Arg170His) GRCh37: Chr17:10553715 GRCh38: Chr17:10650398	MYH3	R170H	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88993819.	NM_002470.4(MYH3):c.571C>T (p.Arg191Trp) GRCh37: Chr17:10552965 GRCh38: Chr17:10649648	MYH3	R191W	not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 88931720.	NM_002470.4(MYH3):c.207C>G (p.Thr69=) GRCh37: Chr17:10555878 GRCh38: Chr17:10652561	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88920121.	NM_002470.4(MYH3):c.1628A>T (p.Lys543Met) GRCh37: Chr17:10545994 GRCh38: Chr17:10642677	MYH3	K543M	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88912522.	NM_002470.4(MYH3):c.2517C>A (p.Pro839=) GRCh37: Chr17:10543478 GRCh38: Chr17:10640161	MYH3		not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 88812823.	NM_002470.4(MYH3):c.5231A>G (p.Asp1744Gly) GRCh37: Chr17:10534983 GRCh38: Chr17:10631666	MYH3	D1744G	Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 88812724.	NM_002470.4(MYH3):c.5250G>A (p.Arg1750=) GRCh37: Chr17:10534964 GRCh38: Chr17:10631647	MYH3		not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 88807325.	NM_002470.4(MYH3):c.5797-12C>G GRCh37: Chr17:10532008 GRCh38: Chr17:10628691	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Benign/Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88712026.	NM_002470.4(MYH3):c.3252A>T (p.Lys1084Asn) GRCh37: Chr17:10542277 GRCh38: Chr17:10638960	MYH3	K1084N	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88711927.	NM_002470.4(MYH3):c.3270A>G (p.Gln1090=) GRCh37: Chr17:10542259 GRCh38: Chr17:10638942	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 88705728.	NM_002470.4(MYH3):c.3594G>T (p.Ala1198=) GRCh37: Chr17:10541495 GRCh38: Chr17:10638178	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (May 24, 2022)	criteria provided, conflicting interpretations
Select item 88699029.	NM_002470.4(MYH3):c.4148G>A (p.Arg1383His) GRCh37: Chr17:10538708 GRCh38: Chr17:10635391	MYH3	R1383H	Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88692830.	NM_002470.4(MYH3):c.4734C>T (p.Ala1578=) GRCh37: Chr17:10536015 GRCh38: Chr17:10632698	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88692731.	NM_002470.4(MYH3):c.4752C>T (p.Ile1584=) GRCh37: Chr17:10535997 GRCh38: Chr17:10632680	MYH3		not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Oct 1, 2021)	criteria provided, conflicting interpretations
Select item 88685632.	NM_002470.4(MYH3):c.5253C>T (p.Asn1751=) GRCh37: Chr17:10534961 GRCh38: Chr17:10631644	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Mar 12, 2022)	criteria provided, conflicting interpretations
Select item 88611533.	NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) GRCh37: Chr17:10541644 GRCh38: Chr17:10638327	MYH3	E1149Q	Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome, not provided	Benign/Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88605734.	NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr) GRCh37: Chr17:10541371 GRCh38: Chr17:10638054	MYH3	S1240T	not provided, Inborn genetic diseases, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Jun 16, 2023)	criteria provided, conflicting interpretations
Select item 88599235.	NM_002470.4(MYH3):c.4203C>T (p.Ser1401=) GRCh37: Chr17:10538310 GRCh38: Chr17:10634993	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 88592036.	NM_002470.4(MYH3):c.4941C>T (p.Val1647=) GRCh37: Chr17:10535808 GRCh38: Chr17:10632491	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88591937.	NM_002470.4(MYH3):c.4957-5G>T GRCh37: Chr17:10535338 GRCh38: Chr17:10632021	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88591838.	NM_002470.4(MYH3):c.5034A>G (p.Arg1678=) GRCh37: Chr17:10535256 GRCh38: Chr17:10631939	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88522039.	NM_002470.4(MYH3):c.3468C>T (p.Gly1156=) GRCh37: Chr17:10541621 GRCh38: Chr17:10638304	MYH3		not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 88521940.	NM_002470.4(MYH3):c.3532G>A (p.Asp1178Asn) GRCh37: Chr17:10541557 GRCh38: Chr17:10638240	MYH3	D1178N	not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 88514941.	NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys) GRCh37: Chr17:10541132 GRCh38: Chr17:10637815	MYH3	E1284K	not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 88514842.	NM_002470.4(MYH3):c.3945G>A (p.Glu1315=) GRCh37: Chr17:10539082 GRCh38: Chr17:10635765	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88507243.	NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg) GRCh37: Chr17:10537405 GRCh38: Chr17:10634088	MYH3	K1484R	Distal arthrogryposis type 2B1, not provided, Freeman-Sheldon syndrome	Benign/Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88507144.	NM_002470.4(MYH3):c.4529T>C (p.Ile1510Thr) GRCh37: Chr17:10537026 GRCh38: Chr17:10633709	MYH3	I1510T	Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88507045.	NM_002470.4(MYH3):c.4591A>G (p.Arg1531Gly) GRCh37: Chr17:10536964 GRCh38: Chr17:10633647	MYH3	R1531G	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88506946.	NM_002470.4(MYH3):c.4635C>T (p.Leu1545=) GRCh37: Chr17:10536920 GRCh38: Chr17:10633603	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not provided	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 88500647.	NM_002470.4(MYH3):c.5052C>G (p.Ala1684=) GRCh37: Chr17:10535238 GRCh38: Chr17:10631921	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 80332448.	NM_002470.4(MYH3):c.349-94dup GRCh37: Chr17:10555064-10555065 GRCh38: Chr17:10651747-10651748	MYH3		not provided, Freeman-Sheldon syndrome	Benign (Oct 2, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80332349.	NM_002470.4(MYH3):c.349-76T>C GRCh37: Chr17:10555061 GRCh38: Chr17:10651744	MYH3		not provided, Freeman-Sheldon syndrome	Benign (Sep 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80332250.	NM_002470.4(MYH3):c.4957-115CAAAA[3] GRCh37: Chr17:10535429-10535433 GRCh38: Chr17:10632112-10632116	MYH3		not provided, Freeman-Sheldon syndrome	Benign (Sep 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 77196851.	NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) GRCh37: Chr17:10535216 GRCh38: Chr17:10631899	MYH3	T1692A	not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70541752.	NM_002470.4(MYH3):c.5301G>A (p.Ala1767=) GRCh37: Chr17:10533761 GRCh38: Chr17:10630444	MYH3		not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 70520353.	NM_002470.4(MYH3):c.3993G>A (p.Ala1331=) GRCh37: Chr17:10538863 GRCh38: Chr17:10635546	MYH3		not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 70504954.	NM_002470.4(MYH3):c.642+8T>C GRCh37: Chr17:10552886 GRCh38: Chr17:10649569	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 70503555.	NM_002470.4(MYH3):c.3389G>A (p.Arg1130His) GRCh37: Chr17:10541700 GRCh38: Chr17:10638383	MYH3	R1130H	not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70458756.	NM_002470.4(MYH3):c.1566C>A (p.Ile522=) GRCh37: Chr17:10546158 GRCh38: Chr17:10642841	MYH3		not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70453357.	NM_002470.4(MYH3):c.5067G>T (p.Leu1689=) GRCh37: Chr17:10535223 GRCh38: Chr17:10631906	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70409358.	NM_002470.4(MYH3):c.4810G>A (p.Ala1604Thr) GRCh37: Chr17:10535939 GRCh38: Chr17:10632622	MYH3	A1604T	not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Sep 18, 2022)	criteria provided, conflicting interpretations
Select item 70382659.	NM_002470.4(MYH3):c.453C>T (p.Ala151=) GRCh37: Chr17:10554881 GRCh38: Chr17:10651564	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70381360.	NM_002470.4(MYH3):c.4098T>C (p.Asn1366=) GRCh37: Chr17:10538758 GRCh38: Chr17:10635441	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69436061.	NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser) GRCh37: Chr17:10545874 GRCh38: Chr17:10642557	MYH3	Y583S	Freeman-Sheldon syndrome	Pathogenic (Aug 21, 2019)	criteria provided, single submitter
Select item 32177962.	NM_002470.4(MYH3):c.-63G>A GRCh37: Chr17:10559461 GRCh38: Chr17:10656144	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32177863.	NM_002470.4(MYH3):c.-44T>C GRCh37: Chr17:10559442 GRCh38: Chr17:10656125	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32177764.	NM_002470.4(MYH3):c.-31C>T GRCh37: Chr17:10559429 GRCh38: Chr17:10656112	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32177665.	NM_002470.4(MYH3):c.-9+4A>T GRCh37: Chr17:10559403 GRCh38: Chr17:10656086	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32177566.	NM_002470.4(MYH3):c.19A>G (p.Met7Val) GRCh37: Chr17:10558363 GRCh38: Chr17:10655046	MYH3	M7V	not provided, Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Nov 30, 2021)	criteria provided, conflicting interpretations
Select item 32177467.	NM_002470.4(MYH3):c.166C>G (p.Gln56Glu) GRCh37: Chr17:10558216 GRCh38: Chr17:10654899	MYH3	Q56E	not provided, Freeman-Sheldon syndrome, Inborn genetic diseases, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 32177368.	NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) GRCh37: Chr17:10555837 GRCh38: Chr17:10652520	MYH3	P83R	Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1, MYH3-Related Disorders	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 32177269.	NM_002470.4(MYH3):c.252G>A (p.Lys84=) GRCh37: Chr17:10555833 GRCh38: Chr17:10652516	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1, not specified	Benign/Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32177170.	NM_002470.4(MYH3):c.412G>A (p.Glu138Lys) GRCh37: Chr17:10554922 GRCh38: Chr17:10651605	MYH3	E138K	Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32177071.	NM_002470.4(MYH3):c.440A>G (p.Lys147Arg) GRCh37: Chr17:10554894 GRCh38: Chr17:10651577	MYH3	K147R	Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32176972.	NM_002470.4(MYH3):c.459C>T (p.Pro153=) GRCh37: Chr17:10554875 GRCh38: Chr17:10651558	MYH3		Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32176873.	NM_002470.4(MYH3):c.642+10G>A GRCh37: Chr17:10552884 GRCh38: Chr17:10649567	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32176774.	NM_002470.4(MYH3):c.736-6A>G GRCh37: Chr17:10550749 GRCh38: Chr17:10647432	MYH3		Distal arthrogryposis type 2B1, not provided, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 32176675.	NM_002470.4(MYH3):c.800-5T>A GRCh37: Chr17:10550602 GRCh38: Chr17:10647285	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Sep 24, 2021)	criteria provided, conflicting interpretations
Select item 32176576.	NM_002470.4(MYH3):c.910A>G (p.Ile304Val) GRCh37: Chr17:10549338 GRCh38: Chr17:10646021	MYH3	I304V	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32176477.	NM_002470.4(MYH3):c.1062G>A (p.Thr354=) GRCh37: Chr17:10549103 GRCh38: Chr17:10645786	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 32176378.	NM_002470.4(MYH3):c.1142-3C>G GRCh37: Chr17:10548022 GRCh38: Chr17:10644705	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32176279.	NM_002470.4(MYH3):c.1211G>C (p.Arg404Thr) GRCh37: Chr17:10547950 GRCh38: Chr17:10644633	MYH3	R404T	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Inborn genetic diseases	Uncertain significance (Dec 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32176080.	NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) GRCh37: Chr17:10546313 GRCh38: Chr17:10642996	MYH3	Y471H	Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 32175981.	NM_002470.4(MYH3):c.1521C>T (p.Ile507=) GRCh37: Chr17:10546203 GRCh38: Chr17:10642886	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32175882.	NM_002470.4(MYH3):c.1582-6A>G GRCh37: Chr17:10546046 GRCh38: Chr17:10642729	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32175783.	NM_002470.4(MYH3):c.1703A>G (p.Lys568Arg) GRCh37: Chr17:10545919 GRCh38: Chr17:10642602	MYH3	K568R	Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (May 15, 2022)	criteria provided, conflicting interpretations
Select item 32175684.	NM_002470.4(MYH3):c.1707G>A (p.Val569=) GRCh37: Chr17:10545915 GRCh38: Chr17:10642598	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Mar 9, 2022)	criteria provided, conflicting interpretations
Select item 32175585.	NM_002470.4(MYH3):c.1872G>A (p.Thr624=) GRCh37: Chr17:10545750 GRCh38: Chr17:10642433	MYH3		Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Sep 8, 2022)	criteria provided, conflicting interpretations
Select item 32175486.	NM_002470.4(MYH3):c.1888+10G>A GRCh37: Chr17:10545724 GRCh38: Chr17:10642407	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 32175387.	NM_002470.4(MYH3):c.1932C>T (p.Ser644=) GRCh37: Chr17:10545584 GRCh38: Chr17:10642267	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32175288.	NM_002470.4(MYH3):c.1960-8del GRCh37: Chr17:10544697 GRCh38: Chr17:10641380	MYH3		Freeman-Sheldon syndrome, Arthrogryposis multiplex congenita, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32175189.	NM_002470.4(MYH3):c.1960-17dup GRCh37: Chr17:10544696-10544697 GRCh38: Chr17:10641379-10641380	MYH3		not provided, Freeman-Sheldon syndrome, Arthrogryposis multiplex congenita	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 32175090.	NM_002470.4(MYH3):c.2175G>A (p.Val725=) GRCh37: Chr17:10543994 GRCh38: Chr17:10640677	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32174991.	NM_002470.4(MYH3):c.2289+4A>G GRCh37: Chr17:10543876 GRCh38: Chr17:10640559	MYH3		Distal arthrogryposis type 2B1, not provided, Freeman-Sheldon syndrome	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32174892.	NM_002470.4(MYH3):c.2371G>A (p.Ala791Thr) GRCh37: Chr17:10543705 GRCh38: Chr17:10640388	MYH3	A791T	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32174793.	NM_002470.4(MYH3):c.2486C>T (p.Pro829Leu) GRCh37: Chr17:10543509 GRCh38: Chr17:10640192	MYH3	P829L	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not provided, Inborn genetic diseases	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32174694.	NM_002470.4(MYH3):c.2683-14C>A GRCh37: Chr17:10543133 GRCh38: Chr17:10639816	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 32174595.	NM_002470.4(MYH3):c.2813C>A (p.Thr938Lys) GRCh37: Chr17:10542989 GRCh38: Chr17:10639672	MYH3	T938K	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32174496.	NM_002470.4(MYH3):c.3039T>C (p.Ala1013=) GRCh37: Chr17:10542678 GRCh38: Chr17:10639361	MYH3		not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign/Likely benign (Feb 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32174397.	NM_002470.4(MYH3):c.3137G>A (p.Arg1046Gln) GRCh37: Chr17:10542472 GRCh38: Chr17:10639155	MYH3	R1046Q	not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 18, 2022)	criteria provided, conflicting interpretations
Select item 32174298.	NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile) GRCh37: Chr17:10542470 GRCh38: Chr17:10639153	MYH3	V1047I	Freeman-Sheldon syndrome, not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 32174199.	NM_002470.4(MYH3):c.3173G>A (p.Gly1058Glu) GRCh37: Chr17:10542436 GRCh38: Chr17:10639119	MYH3	G1058E	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 321740100.	NM_002470.4(MYH3):c.3439C>A (p.Leu1147Met) GRCh37: Chr17:10541650 GRCh38: Chr17:10638333	MYH3	L1147M	Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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