ClinVar for MedGen (Select 1676839) - ClinVar

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Items: 43

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25750601.	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 13302222.	NM_002470.4(MYH3):c.1624C>A (p.Pro542Thr) GRCh37: Chr17:10545998 GRCh38: Chr17:10642681	MYH3	P542T	Arthrogryposis, distal, type 2B3	Likely pathogenic (Sep 14, 2021)	criteria provided, single submitter
Select item 12625633.	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 12221804.	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 9829935.	NM_002470.4(MYH3):c.2473G>A (p.Val825Ile) GRCh37: Chr17:10543522 GRCh38: Chr17:10640205	MYH3	V825I	Arthrogryposis, distal, type 2B3	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 9738826.	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 9319087.	NM_002470.4(MYH3):c.2392A>G (p.Met798Val) GRCh37: Chr17:10543684 GRCh38: Chr17:10640367	MYH3	M798V	Arthrogryposis, distal, type 2B3	Uncertain significance (Apr 18, 2019)	criteria provided, single submitter
Select item 9313398.	NM_002470.4(MYH3):c.5251A>G (p.Asn1751Asp) GRCh37: Chr17:10534963 GRCh38: Chr17:10631646	MYH3	N1751D	Arthrogryposis, distal, type 2B3	Uncertain significance (Nov 8, 2018)	criteria provided, single submitter
Select item 9309959.	NM_002470.4(MYH3):c.5473T>C (p.Phe1825Leu) GRCh37: Chr17:10533498 GRCh38: Chr17:10630181	MYH3	F1825L	Arthrogryposis, distal, type 2B3	Uncertain significance (Dec 3, 2018)	criteria provided, single submitter
Select item 82812410.	NM_002470.4(MYH3):c.4405dup (p.Glu1469fs) GRCh37: Chr17:10537450-10537451 GRCh38: Chr17:10634133-10634134	LOC130060295, MYH3	E1469fs	Arthrogryposis, distal, type 2B3	Likely pathogenic (Feb 5, 2020)	no assertion criteria provided
Select item 69435911.	NM_002470.4(MYH3):c.1549G>T (p.Asp517Tyr) GRCh37: Chr17:10546175 GRCh38: Chr17:10642858	MYH3	D517Y	Arthrogryposis, distal, type 2B3	Uncertain significance (Aug 21, 2019)	criteria provided, single submitter
Select item 69435812.	NM_002470.4(MYH3):c.782C>T (p.Ser261Phe) GRCh37: Chr17:10550697 GRCh38: Chr17:10647380	MYH3	S261F	Arthrogryposis, distal, type 2B3	Likely pathogenic (Aug 21, 2019)	criteria provided, single submitter
Select item 63147113.	NM_002470.4(MYH3):c.1160A>G (p.Tyr387Cys) GRCh37: Chr17:10548001 GRCh38: Chr17:10644684	MYH3	Y387C	Arthrogryposis, distal, type 2B3	Pathogenic (May 16, 2019)	no assertion criteria provided
Select item 58770214.	NM_002470.4(MYH3):c.1581+1G>A GRCh37: Chr17:10546142 GRCh38: Chr17:10642825	MYH3		Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Spondylocarpotarsal synostosis syndrome	Pathogenic/Likely pathogenic (Dec 2, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32175215.	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 32173816.	NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) GRCh37: Chr17:10541610 GRCh38: Chr17:10638293	MYH3	T1160M	Distal arthrogryposis type 2B1, Arthrogryposis, distal, type 2B3, not provided, Freeman-Sheldon syndrome	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 25870117.	NM_002470.4(MYH3):c.5796+30C>T GRCh37: Chr17:10532884 GRCh38: Chr17:10629567	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not specified, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25869818.	NM_002470.4(MYH3):c.5457+9dup GRCh37: Chr17:10533595-10533596 GRCh38: Chr17:10630278-10630279	MYH3		not provided, 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 specified	Benign/Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25869519.	NM_002470.4(MYH3):c.534-44T>C GRCh37: Chr17:10553046 GRCh38: Chr17:10649729	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, not provided, Freeman-Sheldon syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25869120.	NM_002470.4(MYH3):c.4957-16G>C GRCh37: Chr17:10535349 GRCh38: Chr17:10632032	MYH3		not provided, Freeman-Sheldon syndrome, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not specified, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25869021.	NM_002470.4(MYH3):c.4956+32C>T GRCh37: Chr17:10535761 GRCh38: Chr17:10632444	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, not provided, Freeman-Sheldon syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25868222.	NM_002470.4(MYH3):c.349-43C>T GRCh37: Chr17:10555028 GRCh38: Chr17:10651711	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, not provided, Freeman-Sheldon syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25868123.	NM_002470.4(MYH3):c.349-36A>G GRCh37: Chr17:10555021 GRCh38: Chr17:10651704	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not specified, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome	Benign/Likely benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25868024.	NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) GRCh37: Chr17:10541680 GRCh38: Chr17:10638363	MYH3	R1137C	Freeman-Sheldon syndrome, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Arthrogryposis, distal, type 2B3, not specified, not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign/Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25867625.	NM_002470.4(MYH3):c.2926-12A>G GRCh37: Chr17:10542803 GRCh38: Chr17:10639486	MYH3		not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not specified, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25867326.	NM_002470.4(MYH3):c.2166-15A>G GRCh37: Chr17:10544018 GRCh38: Chr17:10640701	MYH3		Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not specified, not provided, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25867127.	NM_002470.4(MYH3):c.1581+13A>C GRCh37: Chr17:10546130 GRCh38: Chr17:10642813	MYH3		not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25867028.	NM_002470.4(MYH3):c.1575C>T (p.Ile525=) GRCh37: Chr17:10546149 GRCh38: Chr17:10642832	MYH3		Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Freeman-Sheldon syndrome, not specified, not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25866829.	NM_002470.4(MYH3):c.1141+32G>A GRCh37: Chr17:10548992 GRCh38: Chr17:10645675	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not specified, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25866730.	NM_002470.4(MYH3):c.1003-22C>T GRCh37: Chr17:10549184 GRCh38: Chr17:10645867	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, not provided, Freeman-Sheldon syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16159631.	NM_002470.4(MYH3):c.118G>A (p.Val40Met) GRCh37: Chr17:10558264 GRCh38: Chr17:10654947	MYH3	V40M	not provided, Freeman-Sheldon syndrome, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Contractures, pterygia, and variable skeletal fusions syndrome 1B	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12966332.	NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) GRCh37: Chr17:10536018 GRCh38: Chr17:10632701	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not provided, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12965833.	NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) GRCh37: Chr17:10541515 GRCh38: Chr17:10638198	MYH3	A1192T	Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12965634.	NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) GRCh37: Chr17:10542471 GRCh38: Chr17:10639154	MYH3		Arthrogryposis, distal, type 2B3, Freeman-Sheldon syndrome, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and variable skeletal fusions syndrome 1B, not provided, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, Freeman-Sheldon syndrome, Contractures, pterygia, and variable skeletal fusions syndrome 1B, Distal arthrogryposis type 2B1 ...see more	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12965335.	NM_002470.4(MYH3):c.2952T>C (p.Ser984=) GRCh37: Chr17:10542765 GRCh38: Chr17:10639448	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, Distal arthrogryposis type 2B1, not specified	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12965236.	NM_002470.4(MYH3):c.2916A>G (p.Thr972=) GRCh37: Chr17:10542886 GRCh38: Chr17:10639569	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not provided, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12965037.	NM_002470.4(MYH3):c.2532A>G (p.Ala844=) GRCh37: Chr17:10543463 GRCh38: Chr17:10640146	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, not provided, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1, not specified	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12964938.	NM_002470.4(MYH3):c.2151C>A (p.Gly717=) GRCh37: Chr17:10544416 GRCh38: Chr17:10641099	MYH3		Contractures, pterygia, and variable skeletal fusions syndrome 1B, Arthrogryposis, distal, type 2B3, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, not specified, not provided, Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1414539.	NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) GRCh37: Chr17:10551909 GRCh38: Chr17:10648592	MYH3	A234T	Freeman-Sheldon syndrome, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Distal arthrogryposis type 2B1, not provided	Likely pathogenic (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 1414440.	NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) GRCh37: Chr17:10547693 GRCh38: Chr17:10644376	MYH3	D462G	Arthrogryposis, distal, type 2B3	Uncertain significance (Aug 21, 2019)	criteria provided, single submitter
Select item 1414341.	NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) GRCh37: Chr17:10549042 GRCh38: Chr17:10645725	MYH3	E375K	MYH3-related condition, Arthrogryposis, distal, type 2B3, not provided	Conflicting interpretations of pathogenicity (Oct 20, 2023)	criteria provided, conflicting interpretations
Select item 1414242.	NM_002470.4(MYH3):c.2590_2592del (p.Leu864del) GRCh37: Chr17:10543403-10543405 GRCh38: Chr17:10640086-10640088	MYH3	L864del	Arthrogryposis, distal, type 2B3	Pathogenic (May 1, 2006)	no assertion criteria provided
Select item 1414043.	NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) GRCh37: Chr17:10553691 GRCh38: Chr17:10650374	MYH3	T178I	Arthrogryposis, distal, type 2B3, MYH3-Related Disorders, Freeman-Sheldon syndrome	Pathogenic (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 43