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	Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Cardiovascular phenotype	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		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 A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, 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		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, 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, 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	Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (May 26, 2023)	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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy	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	not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy	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 A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 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	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, 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, Dilated cardiomyopathy 1X, 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, 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	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		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, 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 A, 4	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		Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, 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 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 without intellectual disability), type B4, Autosomal recessive limb-girdle muscular dystrophy type 2M, 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 A1, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	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	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, Autosomal recessive limb-girdle muscular dystrophy type 2M, 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	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, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Uncertain significance (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 85245153.	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, 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 A1, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84212454.	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 A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, 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	Pathogenic/Likely pathogenic (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70147855.	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 65492656.	NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) GRCh37: Chr9:108397420-108397445 GRCh38: Chr9:105635139-105635164	FKTN	A289fs, A398fs, A421fs	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, 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	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 64398057.	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 A1, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59790958.	NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) GRCh37: Chr9:108397538-108397539 GRCh38: Chr9:105635257-105635258	FKTN	Y329fs, Y438fs, Y461fs	Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, 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, Dilated cardiomyopathy 1X, not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jan 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50181059.	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 49633160.	NM_001079802.2(FKTN):c.648-1243G>T GRCh37: Chr9:108368857 GRCh38: Chr9:105606576	FKTN		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, 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	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45001561.	NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) GRCh37: Chr9:108366685 GRCh38: Chr9:105604404	FKTN	G187S, G55S, G164S	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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (Jan 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43224962.	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 40711163.	NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) GRCh37: Chr9:108337320 GRCh38: Chr9:105575039	FKTN	R3G	Inborn genetic diseases, 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 (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39053164.	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 38105265.	NM_001079802.2(FKTN):c.911-13A>G GRCh37: Chr9:108380227 GRCh38: Chr9:105617946	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy, not provided, Dilated cardiomyopathy 1X, not specified	Conflicting interpretations of pathogenicity (Aug 18, 2022)	criteria provided, conflicting interpretations
Select item 36453366.	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 36453267.	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 36453168.	NM_001079802.2(FKTN):c.*5578G>A GRCh37: Chr9:108403123 GRCh38: Chr9:105640842	FKTN		Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 36453069.	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 36452970.	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 36452771.	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 36452672.	NM_001079802.2(FKTN):c.*5161C>T GRCh37: Chr9:108402706 GRCh38: Chr9:105640425	FKTN		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, 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 36452573.	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 36452474.	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 36452375.	NM_001079802.2(FKTN):c.*5003T>G GRCh37: Chr9:108402548 GRCh38: Chr9:105640267	FKTN		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 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	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36452276.	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 36452177.	NM_001079802.2(FKTN):c.*4825T>C GRCh37: Chr9:108402370 GRCh38: Chr9:105640089	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, not provided, Dilated cardiomyopathy 1X, not specified	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 36452078.	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 36451879.	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 36451780.	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 36451681.	NM_001079802.2(FKTN):c.*3547C>T GRCh37: Chr9:108401092 GRCh38: Chr9:105638811	FKTN		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 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	Uncertain significance (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36451482.	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 36451383.	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 36451284.	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 36451185.	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 36451086.	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 36450987.	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 36450888.	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 36450789.	NM_001079802.2(FKTN):c.*2508G>T GRCh37: Chr9:108400053 GRCh38: Chr9:105637772	FKTN		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 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	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36450690.	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 36450591.	NM_001079802.2(FKTN):c.*2433G>A GRCh37: Chr9:108399978 GRCh38: Chr9:105637697	FKTN		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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36450492.	NM_001079802.2(FKTN):c.*2265T>C GRCh37: Chr9:108399810 GRCh38: Chr9:105637529	FKTN		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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36450393.	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 36450294.	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 36450195.	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 36450096.	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 36449997.	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 36449898.	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
Select item 36449799.	NM_001079802.2(FKTN):c.*1018T>A GRCh37: Chr9:108398563 GRCh38: Chr9:105636282	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 364496100.	NM_001079802.2(FKTN):c.*1017A>G GRCh37: Chr9:108398562 GRCh38: Chr9:105636281	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

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