ClinVar for MedGen (Select 482156) - ClinVar

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Items: 77

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18013311.	NM_002465.4(MYBPC1):c.793C>G (p.Arg265Gly) GRCh37: Chr12:102036324 GRCh38: Chr12:101642546	MYBPC1	R195G, R214G, R221G, R227G, R228G, R240G, R265G	Arthrogryposis, distal, type 1B	Likely pathogenic (Nov 21, 2022)	criteria provided, single submitter
Select item 12779182.	NM_002465.4(MYBPC1):c.1633+33T>C GRCh37: Chr12:102046595 GRCh38: Chr12:101652817	MYBPC1		Myopathy, congenital, with tremor, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12769203.	NM_002465.4(MYBPC1):c.3492+39C>T GRCh37: Chr12:102076479 GRCh38: Chr12:101682701	MYBPC1		Myopathy, congenital, with tremor, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12283724.	NM_002465.4(MYBPC1):c.288del (p.Gly97fs) GRCh37: Chr12:102023320 GRCh38: Chr12:101629542	MYBPC1	G46fs, G59fs, G60fs, G72fs, G97fs	Arthrogryposis, distal, type 1B	Uncertain significance	criteria provided, single submitter
Select item 12281595.	NM_002465.4(MYBPC1):c.2222-38T>C GRCh37: Chr12:102057166 GRCh38: Chr12:101663388	MYBPC1		Myopathy, congenital, with tremor, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12114356.	NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln) GRCh37: Chr12:102025496 GRCh38: Chr12:101631718	MYBPC1	R108Q, R109Q, R121Q, R146Q, R95Q	not provided, Myopathy, congenital, with tremor, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8841617.	NM_002465.4(MYBPC1):c.142+10A>T GRCh37: Chr12:102020698 GRCh38: Chr12:101626920	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8841608.	NM_002465.4(MYBPC1):c.104-10C>A GRCh37: Chr12:102020640 GRCh38: Chr12:101626862	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Mar 29, 2018)	criteria provided, single submitter
Select item 8833439.	NM_002465.4(MYBPC1):c.*169G>T GRCh37: Chr12:102079509 GRCh38: Chr12:101685731	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign/Likely benign (Nov 15, 2019)	criteria provided, multiple submitters, no conflicts
Select item 88256310.	NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=) GRCh37: Chr12:102074279 GRCh38: Chr12:101680501	MYBPC1		Arthrogryposis, distal, type 1B	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88256211.	NM_002465.4(MYBPC1):c.3013G>A (p.Gly1005Arg) GRCh37: Chr12:102071076 GRCh38: Chr12:101677298	MYBPC1	G980R, G1005R, G954R, G961R, G967R, G968R, G998R, G935R	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88250812.	NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val) GRCh37: Chr12:102045068 GRCh38: Chr12:101651290	MYBPC1	I431V, I437V, I450V, I424V, I475V, I438V, I405V	Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88250713.	NM_002465.4(MYBPC1):c.1399C>G (p.Gln467Glu) GRCh37: Chr12:102045044 GRCh38: Chr12:101651266	MYBPC1	Q416E, Q423E, Q442E, Q467E, Q429E, Q430E, Q397E	Inborn genetic diseases, Arthrogryposis, distal, type 1B	Conflicting interpretations of pathogenicity (Aug 16, 2021)	criteria provided, conflicting interpretations
Select item 88250614.	NM_002465.4(MYBPC1):c.1237A>G (p.Arg413Gly) GRCh37: Chr12:102043078 GRCh38: Chr12:101649300	MYBPC1, LOC105369937	R388G, R375G, R362G, R369G, R376G, R413G, R343G	Inborn genetic diseases, Arthrogryposis, distal, type 1B	Conflicting interpretations of pathogenicity (Aug 12, 2021)	criteria provided, conflicting interpretations
Select item 88250515.	NM_002465.4(MYBPC1):c.1234T>C (p.Ser412Pro) GRCh37: Chr12:102043075 GRCh38: Chr12:101649297	MYBPC1, LOC105369937	S374P, S375P, S368P, S412P, S361P, S387P, S342P	Arthrogryposis, distal, type 1B	Uncertain significance (Feb 16, 2018)	criteria provided, single submitter
Select item 88229516.	NM_002465.4(MYBPC1):c.2785G>A (p.Ala929Thr) GRCh37: Chr12:102067376 GRCh38: Chr12:101673598	MYBPC1	A891T, A892T, A904T, A922T, A929T, A885T, A878T, A859T	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88229417.	NM_002465.4(MYBPC1):c.2776G>A (p.Val926Met) GRCh37: Chr12:102067367 GRCh38: Chr12:101673589	MYBPC1	V882M, V926M, V888M, V901M, V919M, V875M, V889M, V856M	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88229318.	NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys) GRCh37: Chr12:102064113 GRCh38: Chr12:101670335	MYBPC1	R809C, R840C, R810C, R847C, R803C, R822C, R796C, R777C	Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88225219.	NM_002465.4(MYBPC1):c.1148G>C (p.Arg383Thr) GRCh37: Chr12:102041880 GRCh38: Chr12:101648102	LOC105369937, MYBPC1	R332T, R346T, R358T, R339T, R345T, R383T, R313T	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88093720.	NM_002465.4(MYBPC1):c.2303A>T (p.His768Leu) GRCh37: Chr12:102057285 GRCh38: Chr12:101663507	MYBPC1	H768L, H731L, H730L, H743L, H717L, H724L, H698L	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88093621.	NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=) GRCh37: Chr12:102057253 GRCh38: Chr12:101663475	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88093522.	NM_002465.4(MYBPC1):c.2153G>A (p.Arg718His) GRCh37: Chr12:102056256 GRCh38: Chr12:101662478	MYBPC1	R681H, R667H, R674H, R693H, R680H, R718H, R648H	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88093423.	NM_002465.4(MYBPC1):c.2033-9T>A GRCh37: Chr12:102056127 GRCh38: Chr12:101662349	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88087724.	NM_002465.4(MYBPC1):c.290-10C>T GRCh37: Chr12:102025339 GRCh38: Chr12:101631561	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 59209025.	NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) GRCh37: Chr12:102071994 GRCh38: Chr12:101678216	MYBPC1	C1068Y, C1075Y, C1050Y, C1031Y, C1024Y, C1037Y, C1038Y, C1005Y	Arthrogryposis, distal, type 1B	Uncertain significance (Apr 27, 2018)	no assertion criteria provided
Select item 30675726.	NM_002465.4(MYBPC1):c.*317C>A GRCh37: Chr12:102079657 GRCh38: Chr12:101685879	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30675627.	NM_002465.4(MYBPC1):c.*277T>C GRCh37: Chr12:102079617 GRCh38: Chr12:101685839	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30675328.	NM_002465.4(MYBPC1):c.*144C>G GRCh37: Chr12:102079484 GRCh38: Chr12:101685706	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30675229.	NM_002465.4(MYBPC1):c.*78G>A GRCh37: Chr12:102079418 GRCh38: Chr12:101685640	MYBPC1		Arthrogryposis, distal, type 1B, not provided, Myopathy, congenital, with tremor, Lethal congenital contracture syndrome 4	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30675130.	NM_002465.4(MYBPC1):c.*45C>T GRCh37: Chr12:102079385 GRCh38: Chr12:101685607	MYBPC1	S1166F	not provided, Arthrogryposis, distal, type 1B	Benign/Likely benign (Sep 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 30675031.	NM_002465.4(MYBPC1):c.*19+3A>G GRCh37: Chr12:102078205 GRCh38: Chr12:101684427	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign (Apr 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30674932.	NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=) GRCh37: Chr12:102074276 GRCh38: Chr12:101680498	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign/Likely benign (Oct 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30674833.	NM_002465.4(MYBPC1):c.3262A>T (p.Met1088Leu) GRCh37: Chr12:102074136 GRCh38: Chr12:101680358	MYBPC1	M1088L, M1037L, M1044L, M1050L, M1051L, M1063L, M1081L, M1018L	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30674734.	NM_002465.4(MYBPC1):c.2908A>C (p.Ile970Leu) GRCh37: Chr12:102069168 GRCh38: Chr12:101675390	MYBPC1	I970L, I919L, I932L, I945L, I963L, I926L, I933L, I900L	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30674635.	NM_002465.4(MYBPC1):c.2579T>C (p.Val860Ala) GRCh37: Chr12:102064153 GRCh38: Chr12:101670375	MYBPC1	V860A, V816A, V822A, V853A, V809A, V823A, V835A, V790A	Arthrogryposis, distal, type 1B, Inborn genetic diseases	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30674536.	NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr) GRCh37: Chr12:102061675 GRCh38: Chr12:101667897	MYBPC1	I841T, I797T, I790T, I804T, I816T, I834T, I803T, I771T	Inborn genetic diseases, Arthrogryposis, distal, type 1B	Conflicting interpretations of pathogenicity (Apr 19, 2023)	criteria provided, conflicting interpretations
Select item 30674437.	NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=) GRCh37: Chr12:102061661 GRCh38: Chr12:101667883	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30674338.	NM_002465.4(MYBPC1):c.2439C>T (p.Ile813=) GRCh37: Chr12:102061592 GRCh38: Chr12:101667814	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30674239.	NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=) GRCh37: Chr12:102057302 GRCh38: Chr12:101663524	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30674040.	NM_002465.4(MYBPC1):c.2124G>A (p.Lys708=) GRCh37: Chr12:102056227 GRCh38: Chr12:101662449	MYBPC1		Arthrogryposis, distal, type 1B	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30673941.	NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=) GRCh37: Chr12:102055021 GRCh38: Chr12:101661243	MYBPC1		not provided, Arthrogryposis, distal, type 1B	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 30673542.	NM_002465.4(MYBPC1):c.1703T>C (p.Leu568Pro) GRCh37: Chr12:102046962 GRCh38: Chr12:101653184	MYBPC1	L568P, L543P, L524P, L530P, L517P, L531P, L498P	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30673443.	NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=) GRCh37: Chr12:102046910 GRCh38: Chr12:101653132	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30673344.	NM_002465.4(MYBPC1):c.1553C>T (p.Ala518Val) GRCh37: Chr12:102046482 GRCh38: Chr12:101652704	MYBPC1	A518V, A474V, A467V, A480V, A493V, A481V, A448V	Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30673245.	NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln) GRCh37: Chr12:102045102 GRCh38: Chr12:101651324	MYBPC1	P486Q, P448Q, P461Q, P435Q, P442Q, P449Q, P416Q	not provided, Arthrogryposis, distal, type 1B, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 30673046.	NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys) GRCh37: Chr12:102043091 GRCh38: Chr12:101649313	LOC105369937, MYBPC1	R417K, R366K, R373K, R379K, R380K, R392K, R347K	not provided, Arthrogryposis, distal, type 1B	Benign/Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30672847.	NM_002465.4(MYBPC1):c.750C>A (p.Ile250=) GRCh37: Chr12:102036281 GRCh38: Chr12:101642503	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30672748.	NM_002465.4(MYBPC1):c.675G>A (p.Lys225=) GRCh37: Chr12:102036206 GRCh38: Chr12:101642428	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30672549.	NM_002465.4(MYBPC1):c.608+14A>G GRCh37: Chr12:102028397 GRCh38: Chr12:101634619	MYBPC1		Arthrogryposis, distal, type 1B, not provided, Myopathy, congenital, with tremor, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B	Benign/Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30672450.	NM_002465.4(MYBPC1):c.557-10C>T GRCh37: Chr12:102028322 GRCh38: Chr12:101634544	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30672251.	NM_002465.4(MYBPC1):c.556+9G>A GRCh37: Chr12:102025925 GRCh38: Chr12:101632147	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign (Jan 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30672152.	NM_002465.4(MYBPC1):c.438+9C>G GRCh37: Chr12:102025506 GRCh38: Chr12:101631728	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 30672053.	NM_002465.4(MYBPC1):c.309A>T (p.Ile103=) GRCh37: Chr12:102025368 GRCh38: Chr12:101631590	MYBPC1		Arthrogryposis, distal, type 1B	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30671954.	NM_002465.4(MYBPC1):c.192C>T (p.Val64=) GRCh37: Chr12:102023225 GRCh38: Chr12:101629447	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30671855.	NM_002465.4(MYBPC1):c.178+7G>A GRCh37: Chr12:102021589 GRCh38: Chr12:101627811	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30670756.	NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met) GRCh37: Chr12:101988865 GRCh38: Chr12:101595087	MYBPC1	K6M	Arthrogryposis, distal, type 1B	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30670657.	NM_002465.4(MYBPC1):c.-13T>C GRCh37: Chr12:101988836 GRCh38: Chr12:101595058	MYBPC1		Arthrogryposis, distal, type 1B	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30670558.	NM_002465.4(MYBPC1):c.-46C>T GRCh37: Chr12:101988803 GRCh38: Chr12:101595025	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign/Likely benign (Jun 17, 2020)	criteria provided, multiple submitters, no conflicts
Select item 30670459.	NM_002465.4(MYBPC1):c.-75G>T GRCh37: Chr12:101988774 GRCh38: Chr12:101594996	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30670360.	NM_002465.4(MYBPC1):c.-93C>T GRCh37: Chr12:101988756 GRCh38: Chr12:101594978	MYBPC1		Arthrogryposis, distal, type 1B, not provided	Benign/Likely benign (Oct 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 25866461.	NM_002465.4(MYBPC1):c.420C>T (p.Thr140=) GRCh37: Chr12:102025479 GRCh38: Chr12:101631701	MYBPC1		not specified, not provided, Arthrogryposis, distal, type 1B	Benign/Likely benign (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25866362.	NM_002465.4(MYBPC1):c.2809+12T>C GRCh37: Chr12:102067412 GRCh38: Chr12:101673634	MYBPC1		not specified, Arthrogryposis, distal, type 1B, not provided	Benign (Nov 26, 2019)	criteria provided, multiple submitters, no conflicts
Select item 25866263.	NM_002465.4(MYBPC1):c.26-9C>T GRCh37: Chr12:102008265 GRCh38: Chr12:101614487	MYBPC1		Arthrogryposis, distal, type 1B, not specified, not provided	Benign/Likely benign (Nov 30, 2020)	criteria provided, multiple submitters, no conflicts
Select item 25866064.	NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala) GRCh37: Chr12:102023224 GRCh38: Chr12:101629446	MYBPC1	V64A, V26A, V39A, V13A, V27A	not specified, Arthrogryposis, distal, type 1B, not provided	Benign (Jul 11, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25865865.	NM_002465.4(MYBPC1):c.1634-18del GRCh37: Chr12:102046875 GRCh38: Chr12:101653097	MYBPC1		not provided, Lethal congenital contracture syndrome 4, Myopathy, congenital, with tremor, Arthrogryposis, distal, type 1B, not specified	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21154666.	NM_002465.4(MYBPC1):c.608+9A>G GRCh37: Chr12:102028392 GRCh38: Chr12:101634614	MYBPC1		not specified, not provided, Arthrogryposis, distal, type 1B	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 21154567.	NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) GRCh37: Chr12:102028369 GRCh38: Chr12:101634591	MYBPC1		not specified, not provided, Arthrogryposis, distal, type 1B, Myopathy, congenital, with tremor, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B	Benign/Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21154368.	NM_002465.4(MYBPC1):c.129C>T (p.Ser43=) GRCh37: Chr12:102020675 GRCh38: Chr12:101626897	MYBPC1		not specified, not provided, Arthrogryposis, distal, type 1B	Conflicting interpretations of pathogenicity (Feb 18, 2021)	criteria provided, conflicting interpretations
Select item 12964769.	NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) GRCh37: Chr12:102036305 GRCh38: Chr12:101642527	MYBPC1		Myopathy, congenital, with tremor, not specified, not provided, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12964670.	NM_002465.4(MYBPC1):c.556+10C>G GRCh37: Chr12:102025926 GRCh38: Chr12:101632148	MYBPC1		not provided, not specified, Arthrogryposis, distal, type 1B	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 12964571.	NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) GRCh37: Chr12:102069077 GRCh38: Chr12:101675299	MYBPC1		Myopathy, congenital, with tremor, not specified, not provided, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12964472.	NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=) GRCh37: Chr12:102064118 GRCh38: Chr12:101670340	MYBPC1		Myopathy, congenital, with tremor, not specified, not provided, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12964373.	NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) GRCh37: Chr12:102055018 GRCh38: Chr12:101661240	MYBPC1		not provided, not specified, Arthrogryposis, distal, type 1B	Benign/Likely benign (Sep 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 12964274.	NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) GRCh37: Chr12:102045163 GRCh38: Chr12:101651385	MYBPC1	H506Q, H462Q, H481Q, H469Q, H455Q, H468Q, H436Q	Myopathy, congenital, with tremor, not specified, not provided, Lethal congenital contracture syndrome 4, Arthrogryposis, distal, type 1B	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12964175.	NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=) GRCh37: Chr12:102045031 GRCh38: Chr12:101651253	MYBPC1		not provided, not specified, Arthrogryposis, distal, type 1B	Benign (Jul 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 2980176.	NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His) GRCh37: Chr12:102064140 GRCh38: Chr12:101670362	MYBPC1	Y856H, Y818H, Y849H, Y805H, Y812H, Y831H, Y819H, Y786H	Arthrogryposis, distal, type 1B	Uncertain significance (Dec 11, 2018)	criteria provided, single submitter
Select item 2980077.	NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg) GRCh37: Chr12:102036237 GRCh38: Chr12:101642459	MYBPC1	W236R, W185R, W192R, W198R, W199R, W211R, W166R	Arthrogryposis, distal, type 1B	Pathogenic (Apr 1, 2010)	no assertion criteria provided

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Items: 77