ClinVar for MedGen (Select 370583) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17451401.	NM_001079802.2(FKTN):c.506A>G (p.His169Arg) GRCh37: Chr9:108366632 GRCh38: Chr9:105604351	FKTN	H37R, H146R, H169R	Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Mar 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16566212.	NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) GRCh37: Chr9:108397458 GRCh38: Chr9:105635177	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15828323.	NM_001079802.2(FKTN):c.1044+17G>C GRCh37: Chr9:108380390 GRCh38: Chr9:105618109	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy	Likely benign (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14475154.	NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) GRCh37: Chr9:108363448 GRCh38: Chr9:105601167	FKTN	M40T, M63T	Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14380535.	NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) GRCh37: Chr9:108397442 GRCh38: Chr9:105635161	FKTN	K296R, K405R, K428R	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14236216.	NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) GRCh37: Chr9:108363499 GRCh38: Chr9:105601218	FKTN	L57P, L80P	Walker-Warburg congenital muscular dystrophy, not provided, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M	Uncertain significance (Sep 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14233457.	NM_001079802.2(FKTN):c.530A>G (p.His177Arg) GRCh37: Chr9:108366656 GRCh38: Chr9:105604375	FKTN	H177R, H154R, H45R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14020198.	NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) GRCh37: Chr9:108377566 GRCh38: Chr9:105615285	FKTN	L263R, L131R, L240R	Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11354259.	NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) GRCh37: Chr9:108397470 GRCh38: Chr9:105635189	FKTN		Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101234010.	NM_001079802.2(FKTN):c.165+1427A>G GRCh37: Chr9:108360365 GRCh38: Chr9:105598084	FKTN		Dilated cardiomyopathy 1X	Pathogenic	no assertion criteria provided
Select item 91523011.	NM_001079802.2(FKTN):c.*462T>C GRCh37: Chr9:108398007 GRCh38: Chr9:105635726	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91522912.	NM_001079802.2(FKTN):c.*166A>G GRCh37: Chr9:108397711 GRCh38: Chr9:105635430	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91519313.	NM_001079802.2(FKTN):c.705A>G (p.Pro235=) GRCh37: Chr9:108370157 GRCh38: Chr9:105607876	FKTN		Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 91463014.	NM_001079802.2(FKTN):c.*3778T>C GRCh37: Chr9:108401323 GRCh38: Chr9:105639042	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (May 12, 2021)	criteria provided, conflicting interpretations
Select item 91459515.	NM_001079802.2(FKTN):c.*2592T>C GRCh37: Chr9:108400137 GRCh38: Chr9:105637856	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91417016.	NM_001079802.2(FKTN):c.*4908A>G GRCh37: Chr9:108402453 GRCh38: Chr9:105640172	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91413017.	NM_001079802.2(FKTN):c.*3516T>C GRCh37: Chr9:108401061 GRCh38: Chr9:105638780	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91412918.	NM_001079802.2(FKTN):c.*3460G>A GRCh37: Chr9:108401005 GRCh38: Chr9:105638724	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91412819.	NM_001079802.2(FKTN):c.*3352C>A GRCh37: Chr9:108400897 GRCh38: Chr9:105638616	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91408120.	NM_001079802.2(FKTN):c.*2464G>A GRCh37: Chr9:108400009 GRCh38: Chr9:105637728	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91408021.	NM_001079802.2(FKTN):c.*2427G>T GRCh37: Chr9:108399972 GRCh38: Chr9:105637691	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Sep 16, 2021)	criteria provided, conflicting interpretations
Select item 91404222.	NM_001079802.2(FKTN):c.*1229A>G GRCh37: Chr9:108398774 GRCh38: Chr9:105636493	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 91404123.	NM_001079802.2(FKTN):c.*1175C>T GRCh37: Chr9:108398720 GRCh38: Chr9:105636439	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X	Uncertain significance (Oct 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91399824.	NM_001079802.2(FKTN):c.*100G>A GRCh37: Chr9:108397645 GRCh38: Chr9:105635364	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91399725.	NM_001079802.2(FKTN):c.*79C>T GRCh37: Chr9:108397624 GRCh38: Chr9:105635343	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91399626.	NM_001079802.2(FKTN):c.*71C>T GRCh37: Chr9:108397616 GRCh38: Chr9:105635335	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91395127.	NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) GRCh37: Chr9:108370116 GRCh38: Chr9:105607835	FKTN	V199I, V222I, V90I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91390828.	NM_001079802.2(FKTN):c.-114G>A GRCh37: Chr9:108336002 GRCh38: Chr9:105573721	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91377529.	NM_001079802.2(FKTN):c.*4826A>G GRCh37: Chr9:108402371 GRCh38: Chr9:105640090	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91377430.	NM_001079802.2(FKTN):c.*4705G>A GRCh37: Chr9:108402250 GRCh38: Chr9:105639969	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91377331.	NM_001079802.2(FKTN):c.*4646A>G GRCh37: Chr9:108402191 GRCh38: Chr9:105639910	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91373032.	NM_001079802.2(FKTN):c.*3312T>G GRCh37: Chr9:108400857 GRCh38: Chr9:105638576	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91368633.	NM_001079802.2(FKTN):c.*2298C>G GRCh37: Chr9:108399843 GRCh38: Chr9:105637562	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (May 12, 2021)	criteria provided, conflicting interpretations
Select item 91368534.	NM_001079802.2(FKTN):c.*2254A>G GRCh37: Chr9:108399799 GRCh38: Chr9:105637518	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91364135.	NM_001079802.2(FKTN):c.*1010G>A GRCh37: Chr9:108398555 GRCh38: Chr9:105636274	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91267036.	NM_001079802.2(FKTN):c.*4501A>G GRCh37: Chr9:108402046 GRCh38: Chr9:105639765	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91266937.	NM_001079802.2(FKTN):c.*4491T>C GRCh37: Chr9:108402036 GRCh38: Chr9:105639755	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91266838.	NM_001079802.2(FKTN):c.*3985C>T GRCh37: Chr9:108401530 GRCh38: Chr9:105639249	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91263139.	NM_001079802.2(FKTN):c.*2902C>T GRCh37: Chr9:108400447 GRCh38: Chr9:105638166	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91263040.	NM_001079802.2(FKTN):c.*2674A>G GRCh37: Chr9:108400219 GRCh38: Chr9:105637938	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91262941.	NM_001079802.2(FKTN):c.*2640G>C GRCh37: Chr9:108400185 GRCh38: Chr9:105637904	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 91258542.	NM_001079802.2(FKTN):c.*2213A>G GRCh37: Chr9:108399758 GRCh38: Chr9:105637477	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 91258443.	NM_001079802.2(FKTN):c.*1843A>T GRCh37: Chr9:108399388 GRCh38: Chr9:105637107	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 91258344.	NM_001079802.2(FKTN):c.*1638A>G GRCh37: Chr9:108399183 GRCh38: Chr9:105636902	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Aug 26, 2021)	criteria provided, conflicting interpretations
Select item 91253745.	NM_001079802.2(FKTN):c.*806G>C GRCh37: Chr9:108398351 GRCh38: Chr9:105636070	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (May 12, 2021)	criteria provided, conflicting interpretations
Select item 91253646.	NM_001079802.2(FKTN):c.*777C>A GRCh37: Chr9:108398322 GRCh38: Chr9:105636041	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 91253547.	NM_001079802.2(FKTN):c.*760A>C GRCh37: Chr9:108398305 GRCh38: Chr9:105636024	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91253448.	NM_001079802.2(FKTN):c.*712C>T GRCh37: Chr9:108398257 GRCh38: Chr9:105635976	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91248549.	NM_001079802.2(FKTN):c.910+7T>G GRCh37: Chr9:108377695 GRCh38: Chr9:105615414	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91244950.	NM_001079802.2(FKTN):c.-39G>A GRCh37: Chr9:108337275 GRCh38: Chr9:105574994	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 86425751.	NM_001079802.2(FKTN):c.711C>G (p.His237Gln) GRCh37: Chr9:108370163 GRCh38: Chr9:105607882	FKTN	H214Q, H237Q, H105Q	Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86157952.	NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) GRCh37: Chr9:108382272 GRCh38: Chr9:105619991	FKTN	F345L, F236L, F368L	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Uncertain significance (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85965253.	NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) GRCh37: Chr9:108366525-108366533 GRCh38: Chr9:105604244-105604252	FKTN		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M	Uncertain significance (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85245154.	NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) GRCh37: Chr9:108397516 GRCh38: Chr9:105635235	FKTN	E430K, E321K, E453K	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84212455.	NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) GRCh37: Chr9:108370218 GRCh38: Chr9:105607937	FKTN	R233, R124, R256*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Walker-Warburg congenital muscular dystrophy	Pathogenic/Likely pathogenic (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70147856.	NM_001079802.2(FKTN):c.207T>C (p.Asn69=) GRCh37: Chr9:108363467 GRCh38: Chr9:105601186	FKTN		Walker-Warburg congenital muscular dystrophy, not specified, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 65492657.	NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) GRCh37: Chr9:108397420-108397445 GRCh38: Chr9:105635139-105635164	FKTN	A289fs, A398fs, A421fs	Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 64398058.	NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) GRCh37: Chr9:108358913 GRCh38: Chr9:105596632	FKTN	R47Q	Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59790959.	NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) GRCh37: Chr9:108397538-108397539 GRCh38: Chr9:105635257-105635258	FKTN	Y329fs, Y438fs, Y461fs	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jan 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50181060.	NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) GRCh37: Chr9:108366571 GRCh38: Chr9:105604290	FKTN	G149R, G126R, G17R	Walker-Warburg congenital muscular dystrophy, not provided, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49955161.	NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) GRCh37: Chr9:108397496 GRCh38: Chr9:105635215	FKTN	N446S, N314S, N423S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49633162.	NM_001079802.2(FKTN):c.648-1243G>T GRCh37: Chr9:108368857 GRCh38: Chr9:105606576	FKTN		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45001563.	NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) GRCh37: Chr9:108366685 GRCh38: Chr9:105604404	FKTN	G187S, G55S, G164S	Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jan 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43224964.	NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) GRCh37: Chr9:108397496 GRCh38: Chr9:105635215	FKTN	N446I, N423I, N314I	Cardiovascular phenotype, not provided, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 40711165.	NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) GRCh37: Chr9:108337320 GRCh38: Chr9:105575039	FKTN	R3G	Walker-Warburg congenital muscular dystrophy, Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39053166.	NM_001079802.2(FKTN):c.766C>A (p.Arg256=) GRCh37: Chr9:108370218 GRCh38: Chr9:105607937	FKTN		Cardiovascular phenotype, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, not provided	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 38105267.	NM_001079802.2(FKTN):c.911-13A>G GRCh37: Chr9:108380227 GRCh38: Chr9:105617946	FKTN		not provided, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Aug 18, 2022)	criteria provided, conflicting interpretations
Select item 36453368.	NM_001079802.2(FKTN):c.*5817A>C GRCh37: Chr9:108403362 GRCh38: Chr9:105641081	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36453269.	NM_001079802.2(FKTN):c.*5618T>A GRCh37: Chr9:108403163 GRCh38: Chr9:105640882	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Benign/Likely benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36453170.	NM_001079802.2(FKTN):c.*5578G>A GRCh37: Chr9:108403123 GRCh38: Chr9:105640842	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (May 12, 2021)	criteria provided, conflicting interpretations
Select item 36453071.	NM_001079802.2(FKTN):c.*5517T>C GRCh37: Chr9:108403062 GRCh38: Chr9:105640781	FKTN		not provided, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (May 12, 2021)	criteria provided, conflicting interpretations
Select item 36452972.	NM_001079802.2(FKTN):c.*5356C>T GRCh37: Chr9:108402901 GRCh38: Chr9:105640620	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36452773.	NM_001079802.2(FKTN):c.*5260G>T GRCh37: Chr9:108402805 GRCh38: Chr9:105640524	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 36452674.	NM_001079802.2(FKTN):c.*5161C>T GRCh37: Chr9:108402706 GRCh38: Chr9:105640425	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36452575.	NM_001079802.2(FKTN):c.*5062G>A GRCh37: Chr9:108402607 GRCh38: Chr9:105640326	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Benign/Likely benign (Jun 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36452476.	NM_001079802.2(FKTN):c.*5041G>A GRCh37: Chr9:108402586 GRCh38: Chr9:105640305	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Benign/Likely benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36452377.	NM_001079802.2(FKTN):c.*5003T>G GRCh37: Chr9:108402548 GRCh38: Chr9:105640267	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36452278.	NM_001079802.2(FKTN):c.*4940C>G GRCh37: Chr9:108402485 GRCh38: Chr9:105640204	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36452179.	NM_001079802.2(FKTN):c.*4825T>C GRCh37: Chr9:108402370 GRCh38: Chr9:105640089	FKTN		not specified, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 36452080.	NM_001079802.2(FKTN):c.*4599G>A GRCh37: Chr9:108402144 GRCh38: Chr9:105639863	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36451881.	NM_001079802.2(FKTN):c.*3918A>G GRCh37: Chr9:108401463 GRCh38: Chr9:105639182	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36451782.	NM_001079802.2(FKTN):c.*3861T>C GRCh37: Chr9:108401406 GRCh38: Chr9:105639125	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 36451683.	NM_001079802.2(FKTN):c.*3547C>T GRCh37: Chr9:108401092 GRCh38: Chr9:105638811	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36451484.	NM_001079802.2(FKTN):c.*3377A>G GRCh37: Chr9:108400922 GRCh38: Chr9:105638641	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36451385.	NM_001079802.2(FKTN):c.*3156A>T GRCh37: Chr9:108400701 GRCh38: Chr9:105638420	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36451286.	NM_001079802.2(FKTN):c.*3046T>C GRCh37: Chr9:108400591 GRCh38: Chr9:105638310	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36451187.	NM_001079802.2(FKTN):c.*2984C>T GRCh37: Chr9:108400529 GRCh38: Chr9:105638248	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36451088.	NM_001079802.2(FKTN):c.*2910C>A GRCh37: Chr9:108400455 GRCh38: Chr9:105638174	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 36450989.	NM_001079802.2(FKTN):c.*2904G>A GRCh37: Chr9:108400449 GRCh38: Chr9:105638168	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36450890.	NM_001079802.2(FKTN):c.*2516G>T GRCh37: Chr9:108400061 GRCh38: Chr9:105637780	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36450791.	NM_001079802.2(FKTN):c.*2508G>T GRCh37: Chr9:108400053 GRCh38: Chr9:105637772	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36450692.	NM_001079802.2(FKTN):c.*2505A>G GRCh37: Chr9:108400050 GRCh38: Chr9:105637769	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36450593.	NM_001079802.2(FKTN):c.*2433G>A GRCh37: Chr9:108399978 GRCh38: Chr9:105637697	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36450494.	NM_001079802.2(FKTN):c.*2265T>C GRCh37: Chr9:108399810 GRCh38: Chr9:105637529	FKTN		Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36450395.	NM_001079802.2(FKTN):c.*1845G>T GRCh37: Chr9:108399390 GRCh38: Chr9:105637109	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36450296.	NM_001079802.2(FKTN):c.*1681G>A GRCh37: Chr9:108399226 GRCh38: Chr9:105636945	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36450197.	NM_001079802.2(FKTN):c.*1511A>G GRCh37: Chr9:108399056 GRCh38: Chr9:105636775	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36450098.	NM_001079802.2(FKTN):c.*1276C>T GRCh37: Chr9:108398821 GRCh38: Chr9:105636540	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36449999.	NM_001079802.2(FKTN):c.*1249C>T GRCh37: Chr9:108398794 GRCh38: Chr9:105636513	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 364498100.	NM_001079802.2(FKTN):c.*1133A>G GRCh37: Chr9:108398678 GRCh38: Chr9:105636397	FKTN		not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Benign/Likely benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts

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