ClinVar for MedGen (Select 1676961) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25063651.	NM_003282.4(TNNI2):c.496G>T (p.Glu166Ter) GRCh37: Chr11:1862728 GRCh38: Chr11:1841498	TNNI2	E166*	Distal arthrogryposis type 2B1	Likely pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 24371352.	NM_003282.4(TNNI2):c.275_276+1del GRCh37: Chr11:1862134-1862136 GRCh38: Chr11:1840904-1840906	TNNI2		Distal arthrogryposis type 2B1	Uncertain significance (Feb 4, 2019)	criteria provided, single submitter
Select item 24341823.	NM_003282.4(TNNI2):c.503_505dup (p.Ser169Ter) GRCh37: Chr11:1862734-1862735 GRCh38: Chr11:1841504-1841505	TNNI2	S169*	Distal arthrogryposis type 2B1	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 17089474.	NM_003282.4(TNNI2):c.9-1G>C GRCh37: Chr11:1861078 GRCh38: Chr11:1839848	TNNI2		Distal arthrogryposis type 2B1	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 16836055.	NM_003282.4(TNNI2):c.368T>C (p.Leu123Pro) GRCh37: Chr11:1862352 GRCh38: Chr11:1841122	TNNI2	L123P	Distal arthrogryposis type 2B1	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 13338976.	NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp) GRCh37: Chr11:1862752 GRCh38: Chr11:1841522	TNNI2	R174W	Distal arthrogryposis type 2B1	Likely pathogenic (Apr 24, 2019)	criteria provided, single submitter
Select item 13262777.	NM_003282.4(TNNI2):c.532T>A (p.Phe178Ile) GRCh37: Chr11:1862764 GRCh38: Chr11:1841534	TNNI2	F178I	Distal arthrogryposis type 2B1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 10343068.	NM_006757.4(TNNT3):c.480+8C>T GRCh37: Chr11:1955683 GRCh38: Chr11:1934453	TNNT3		Distal arthrogryposis type 2B1	Uncertain significance (Jan 24, 2018)	criteria provided, single submitter
Select item 10285529.	NM_006757.4(TNNT3):c.757G>C (p.Val253Leu) GRCh37: Chr11:1959702 GRCh38: Chr11:1938472	TNNT3	V249L, V253L, V256L, V234L, V185L, V245L, V252L, V251L, V264L	Distal arthrogryposis type 2B1	Uncertain significance (Jan 31, 2020)	criteria provided, single submitter
Select item 97591410.	NM_003282.4(TNNI2):c.530T>C (p.Met177Thr) GRCh37: Chr11:1862762 GRCh38: Chr11:1841532	TNNI2	M177T	Distal arthrogryposis type 2B1	Uncertain significance (Mar 24, 2021)	criteria provided, single submitter
Select item 89249611.	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 89174812.	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 89174713.	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 89174614.	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 89161415.	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 89142216.	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 89129917.	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 88994018.	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 88993919.	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 88993820.	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 88931721.	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 88920122.	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 88912523.	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 88812824.	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 88812725.	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 88807326.	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 88712027.	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 88711928.	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 88705729.	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 88699030.	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 88692831.	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 88692732.	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 88685633.	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 88611534.	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 88605735.	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 88599236.	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 88592037.	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 88591938.	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 88591839.	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 88522040.	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 88521941.	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 88514942.	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 88514843.	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 88507244.	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 88507145.	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 88507046.	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 88506947.	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 88500648.	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 88010849.	NM_006757.4(TNNT3):c.*57C>T GRCh37: Chr11:1959779 GRCh38: Chr11:1938549	TNNT3		Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88004150.	NM_006757.4(TNNT3):c.257A>G (p.Glu86Gly) GRCh37: Chr11:1955036 GRCh38: Chr11:1933806	TNNT3	E18G, E89G, E97G, E84G, E78G, E82G, E85G, E67G, E86G	Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87992751.	NM_003282.4(TNNI2):c.276+12C>T GRCh37: Chr11:1862150 GRCh38: Chr11:1840920	TNNI2		Distal arthrogryposis type 2B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87957052.	NM_003282.4(TNNI2):c.171C>A (p.Ser57=) GRCh37: Chr11:1861871 GRCh38: Chr11:1840641	TNNI2		Distal arthrogryposis type 2B1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87829253.	NM_006757.4(TNNT3):c.591-12C>T GRCh37: Chr11:1956047 GRCh38: Chr11:1934817	TNNT3		not provided, Distal arthrogryposis type 2B1	Conflicting interpretations of pathogenicity (Aug 14, 2021)	criteria provided, conflicting interpretations
Select item 87829154.	NM_006757.4(TNNT3):c.504G>A (p.Lys168=) GRCh37: Chr11:1955799 GRCh38: Chr11:1934569	TNNT3		Distal arthrogryposis type 2B1	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87829055.	NM_006757.4(TNNT3):c.496G>A (p.Gly166Ser) GRCh37: Chr11:1955791 GRCh38: Chr11:1934561	TNNT3	G147S, G164S, G169S, G166S, G177S, G162S, G165S, G98S, G158S	Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87795156.	NM_003282.4(TNNI2):c.-68C>T GRCh37: Chr11:1860218 GRCh38: Chr11:1838988	TNNI2		Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87724757.	NM_006757.4(TNNT3):c.491A>G (p.Lys164Arg) GRCh37: Chr11:1955786 GRCh38: Chr11:1934556	TNNT3	K163R, K96R, K156R, K167R, K175R, K145R, K160R, K162R, K164R	Distal arthrogryposis type 2B1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 77196858.	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 70541759.	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 70520360.	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 70504961.	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 70503562.	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 70458763.	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 70453364.	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 70409365.	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 70382666.	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 70381367.	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 69407068.	NM_003282.4(TNNI2):c.493A>T (p.Ile165Phe) GRCh37: Chr11:1862725 GRCh38: Chr11:1841495	TNNI2	I165F	Distal arthrogryposis type 2B1	Pathogenic (Nov 1, 2019)	no assertion criteria provided
Select item 69208069.	NM_003289.4(TPM2):c.307C>A (p.Gln103Lys) GRCh37: Chr9:35685711 GRCh38: Chr9:35685714	TPM2	Q103K	Distal arthrogryposis type 2B1	Likely pathogenic (Mar 1, 2019)	criteria provided, single submitter
Select item 58760770.	NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) GRCh37: Chr17:10538727 GRCh38: Chr17:10635410	MYH3	E1377Q	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, Arthrogryposis, distal, type 1A, Distal arthrogryposis type 2B1, not provided	Uncertain significance (Jun 6, 2019)	criteria provided, multiple submitters, no conflicts
Select item 54855671.	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) GRCh37: Chr9:35682107 GRCh38: Chr9:35682110	TPM2	Q276E	Arthrogryposis, distal, type 1A, Nemaline myopathy 4, Distal arthrogryposis type 2B1	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 52265672.	NM_002470.4(MYH3):c.4826G>A (p.Arg1609Lys) GRCh37: Chr17:10535923 GRCh38: Chr17:10632606	MYH3	R1609K	Distal arthrogryposis type 2B1	Uncertain significance (May 3, 2020)	criteria provided, single submitter
Select item 51710473.	NM_003282.4(TNNI2):c.453+3G>A GRCh37: Chr11:1862440 GRCh38: Chr11:1841210	TNNI2		not provided, Distal arthrogryposis type 2B1	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32177974.	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 32177875.	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 32177776.	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 32177677.	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 32177578.	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 32177479.	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 32177380.	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 32177281.	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 32177182.	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 32177083.	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 32176984.	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 32176885.	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 32176786.	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 32176687.	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 32176588.	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 32176489.	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 32176390.	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 32176291.	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 32176092.	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 32175993.	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 32175894.	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 32175795.	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 32175696.	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 32175597.	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 32175498.	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 32175399.	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 321750100.	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

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