ClinVar for MedGen (Select 140820) - 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 17269842.	NM_001079802.2(FKTN):c.840dup (p.Leu281fs) GRCh37: Chr9:108377617-108377618 GRCh38: Chr9:105615336-105615337	FKTN	L149fs, L258fs, L281fs	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	Likely pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 17268693.	NM_001079802.2(FKTN):c.69dup (p.Gln24fs) GRCh37: Chr9:108337379-108337380 GRCh38: Chr9:105575098-105575099	FKTN	Q24fs	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	Likely pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 17266854.	NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter) GRCh37: Chr9:108363505 GRCh38: Chr9:105601224	FKTN	L59, L82	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	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 17261105.	NM_001079802.2(FKTN):c.587_590del (p.Asp196fs) GRCh37: Chr9:108366712-108366715 GRCh38: Chr9:105604431-105604434	FKTN	D173fs, D196fs, D64fs	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	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 17255836.	NM_001079802.2(FKTN):c.378del (p.Trp126fs) GRCh37: Chr9:108366503 GRCh38: Chr9:105604222	FKTN	W103fs, W126fs	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	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 17252727.	NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs) GRCh37: Chr9:108380299-108380302 GRCh38: Chr9:105618018-105618021	FKTN	I192fs, I301fs, I324fs	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	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 17250358.	NM_001079802.2(FKTN):c.442_443del (p.Asp148fs) GRCh37: Chr9:108366567-108366568 GRCh38: Chr9:105604286-105604287	FKTN	D125fs, D148fs, D16fs	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	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 17249539.	NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs) GRCh37: Chr9:108366554-108366555 GRCh38: Chr9:105604273-105604274	FKTN	K11fs, K120fs, K143fs	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	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172475210.	NM_001079802.2(FKTN):c.436dup (p.Arg146fs) GRCh37: Chr9:108366558-108366559 GRCh38: Chr9:105604277-105604278	FKTN	R123fs, R146fs, R14fs	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	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172461011.	NM_001079802.2(FKTN):c.569_570del (p.Arg190fs) GRCh37: Chr9:108366693-108366694 GRCh38: Chr9:105604412-105604413	FKTN	R167fs, R190fs, R58fs	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	Likely pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 172454112.	NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter) GRCh37: Chr9:108366526 GRCh38: Chr9:105604245	FKTN	G111, G134, G2*	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	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 165662113.	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 158283214.	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 144751515.	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 143805316.	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 142362117.	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 142334518.	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 140201919.	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 133280820.	NM_001079802.2(FKTN):c.165+5G>A GRCh37: Chr9:108358943 GRCh38: Chr9:105596662	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely pathogenic	criteria provided, single submitter
Select item 125203021.	NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) GRCh37: Chr9:108337391 GRCh38: Chr9:105575110	FKTN	Y26*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 119936822.	NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) GRCh37: Chr9:108380263 GRCh38: Chr9:105617982	FKTN	I180V, I289V, I312V	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	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119936723.	NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) GRCh37: Chr9:108377602 GRCh38: Chr9:105615321	FKTN	K143R, K252R, K275R	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	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119935424.	NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) GRCh37: Chr9:108337331 GRCh38: Chr9:105575050	FKTN	K6N	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	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119935325.	NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) GRCh37: Chr9:108382320 GRCh38: Chr9:105620039	FKTN	A252S, A361S, A384S	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	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119935226.	NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) GRCh37: Chr9:108380306 GRCh38: Chr9:105618025	FKTN	D194G, D303G, D326G	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	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 113542527.	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 107576528.	NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer) GRCh37: Chr9:108366693-108366694 GRCh38: Chr9:105604412-105604413	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy	Pathogenic/Likely pathogenic (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94739829.	NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) GRCh37: Chr9:108397484 GRCh38: Chr9:105635203	FKTN	N310S, N442S, N419S	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Mar 3, 2022)	criteria provided, conflicting interpretations
Select item 91523030.	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 91522931.	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 91519332.	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 91463033.	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 91459534.	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 91417035.	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 91413036.	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 91412937.	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 91412838.	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 91408139.	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 91408040.	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 91404241.	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 91404142.	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 91399843.	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 91399744.	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 91399645.	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 91395146.	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 91390847.	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 91377548.	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 91377449.	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 91377350.	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 91373051.	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 91368652.	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 91368553.	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 91364154.	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 91267055.	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 91266956.	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 91266857.	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 91263158.	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 91263059.	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 91262960.	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 91258561.	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 91258462.	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 91258363.	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 91253764.	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 91253665.	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 91253566.	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 91253467.	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 91248568.	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 91244969.	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 86425770.	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 86157971.	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 85965272.	NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) GRCh37: Chr9:108366525-108366533 GRCh38: Chr9:105604244-105604252	FKTN		Walker-Warburg congenital muscular dystrophy, 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 A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Nov 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85245173.	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 84212474.	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 70147875.	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 66696976.	NM_001079802.2(FKTN):c.528dup (p.His177fs) GRCh37: Chr9:108366651-108366652 GRCh38: Chr9:105604370-105604371	FKTN	H154fs, H177fs, H45fs	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Pathogenic/Likely pathogenic (May 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65492677.	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 64398078.	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 59790979.	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 55861180.	NM_001079802.2(FKTN):c.1173-2A>G GRCh37: Chr9:108397330 GRCh38: Chr9:105635049	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely pathogenic (Jun 4, 2018)	criteria provided, single submitter
Select item 55821781.	NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) GRCh37: Chr9:108397423-108397445 GRCh38: Chr9:105635142-105635164	FKTN	N399fs, N422fs, N290fs	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Aug 31, 2021)	criteria provided, conflicting interpretations
Select item 55816182.	NM_001079802.2(FKTN):c.1172+1G>A GRCh37: Chr9:108382343 GRCh38: Chr9:105620062	FKTN		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Mar 6, 2022)	criteria provided, conflicting interpretations
Select item 55790883.	NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) GRCh37: Chr9:108382299-108382300 GRCh38: Chr9:105620018-105620019	FKTN	M245fs, M354fs, M377fs	Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely pathogenic (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55714884.	NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) GRCh37: Chr9:108363435-108363440 GRCh38: Chr9:105601154-105601159	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 55711385.	NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) GRCh37: Chr9:108397408 GRCh38: Chr9:105635127	FKTN	E417, E285, E394*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Mar 8, 2018)	criteria provided, single submitter
Select item 55683186.	NM_001079802.2(FKTN):c.1099del (p.Val367fs) GRCh37: Chr9:108382269 GRCh38: Chr9:105619988	FKTN	V235fs, V367fs, V344fs	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55566187.	NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) GRCh37: Chr9:108337355 GRCh38: Chr9:105575074	FKTN		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55505888.	NM_001079802.2(FKTN):c.*4859A>G GRCh37: Chr9:108402404 GRCh38: Chr9:105640123	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Nov 13, 2017)	criteria provided, single submitter
Select item 55441489.	NM_001079802.2(FKTN):c.557A>G (p.His186Arg) GRCh37: Chr9:108366683 GRCh38: Chr9:105604402	FKTN	H186R, H54R, H163R	Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Jun 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55410690.	NM_001079802.2(FKTN):c.*4859A>T GRCh37: Chr9:108402404 GRCh38: Chr9:105640123	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Sep 26, 2017)	criteria provided, single submitter
Select item 55377991.	NM_001079802.2(FKTN):c.1201del (p.Trp401fs) GRCh37: Chr9:108397360 GRCh38: Chr9:105635079	FKTN	L411fs, W401fs, W269fs, W378fs	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Nov 14, 2017)	criteria provided, single submitter
Select item 55358992.	NM_001079802.2(FKTN):c.-181+1G>C GRCh37: Chr9:108320447 GRCh38: Chr9:105558166	FKTN, FKTN-AS1		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Aug 30, 2017)	criteria provided, single submitter
Select item 55335293.	NM_001079802.2(FKTN):c.1173-1G>C GRCh37: Chr9:108397331 GRCh38: Chr9:105635050	FKTN		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Feb 24, 2022)	criteria provided, conflicting interpretations
Select item 55296494.	NM_001079802.2(FKTN):c.1173-1G>A GRCh37: Chr9:108397331 GRCh38: Chr9:105635050	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely pathogenic (Jul 31, 2017)	criteria provided, single submitter
Select item 55226395.	NM_001079802.2(FKTN):c.106-2A>G GRCh37: Chr9:108358877 GRCh38: Chr9:105596596	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely pathogenic (Jun 1, 2017)	criteria provided, single submitter
Select item 55176996.	NM_001079802.2(FKTN):c.370-2A>G GRCh37: Chr9:108366494 GRCh38: Chr9:105604213	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely pathogenic (May 15, 2017)	criteria provided, single submitter
Select item 55122197.	NM_001079802.2(FKTN):c.-1_2del (p.Met1del) GRCh37: Chr9:108337312-108337314 GRCh38: Chr9:105575031-105575033	FKTN	M1del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Conflicting interpretations of pathogenicity (Nov 24, 2022)	criteria provided, conflicting interpretations
Select item 55066998.	NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) GRCh37: Chr9:108363448-108363450 GRCh38: Chr9:105601167-105601169	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Feb 14, 2017)	criteria provided, single submitter
Select item 50181099.	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 499551100.	NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) GRCh37: Chr9:108397496 GRCh38: Chr9:105635215	FKTN	N446S, N314S, N423S	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, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, not provided	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts

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