ClinVar for MedGen (Select 413465) - ClinVar

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Items: 78

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 17256246.	NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs) GRCh37: Chr9:108370197-108370198 GRCh38: Chr9:105607916-105607917	FKTN	E117fs, E226fs, E249fs	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 17255837.	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 17252728.	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 17250359.	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 172495310.	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 172475211.	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 172461012.	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 172454113.	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 165662114.	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 158283215.	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 144751516.	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 143805317.	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 142362118.	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 142334519.	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 140201920.	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 119936821.	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 119936722.	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 119935423.	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 119935324.	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 119935225.	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 113542526.	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 91459527.	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 91413028.	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 91404129.	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 86425730.	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 86157931.	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 85965232.	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 85245133.	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 84212434.	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 65492635.	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 64398036.	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 59790937.	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 55566138.	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 55122139.	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 49955140.	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
Select item 49633141.	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 45001542.	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 40711143.	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 36452644.	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 36452345.	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 36451646.	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 36450747.	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 36450548.	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 36450449.	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 36449550.	NM_001079802.2(FKTN):c.*954T>A GRCh37: Chr9:108398499 GRCh38: Chr9:105636218	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 (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36449051.	NM_001079802.2(FKTN):c.*42del GRCh37: Chr9:108397581 GRCh38: Chr9:105635300	FKTN		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated Cardiomyopathy, Recessive, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36448352.	NM_001079802.2(FKTN):c.-181+1G>T GRCh37: Chr9:108320447 GRCh38: Chr9:105558166	FKTN, FKTN-AS1		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 (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29047953.	NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) GRCh37: Chr9:108377598 GRCh38: Chr9:105615317	FKTN	R274W, R251W, R142W	Cardiovascular phenotype, 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, Dilated cardiomyopathy 1X, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Conflicting interpretations of pathogenicity (Mar 9, 2022)	criteria provided, conflicting interpretations
Select item 29021554.	NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) GRCh37: Chr9:108370155 GRCh38: Chr9:105607874	FKTN	P235T, P103T, P212T	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, not specified, Walker-Warburg congenital muscular dystrophy, not provided	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 28884655.	NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) GRCh37: Chr9:108366652 GRCh38: Chr9:105604371	FKTN	F176V, F44V, F153V	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, Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28866156.	NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) GRCh37: Chr9:108363626 GRCh38: Chr9:105601345	FKTN	N122K, N99K	Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Inborn genetic diseases, Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28647157.	NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) GRCh37: Chr9:108366509 GRCh38: Chr9:105604228	FKTN	R128Q, R105Q	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, Walker-Warburg congenital muscular dystrophy, not provided, Cardiovascular phenotype	Uncertain significance (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 28538158.	NM_001079802.2(FKTN):c.531T>A (p.His177Gln) GRCh37: Chr9:108366657 GRCh38: Chr9:105604376	FKTN	H177Q, H154Q, H45Q	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, Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28375959.	NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) GRCh37: Chr9:108366563 GRCh38: Chr9:105604282	FKTN	R146Q, R123Q, R14Q	not provided, 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, Walker-Warburg congenital muscular dystrophy, not specified, Cardiovascular phenotype	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28362260.	NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) GRCh37: Chr9:108366581-108366582 GRCh38: Chr9:105604300-105604301	FKTN	S131fs, S22fs, S154fs	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, Walker-Warburg congenital muscular dystrophy, not provided	Pathogenic/Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28346961.	NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) GRCh37: Chr9:108397387 GRCh38: Chr9:105635106	FKTN	H410N, H278N, H387N	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, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Jan 23, 2023)	criteria provided, conflicting interpretations
Select item 28183962.	NM_001079802.2(FKTN):c.330dup (p.Thr111fs) GRCh37: Chr9:108363587-108363588 GRCh38: Chr9:105601306-105601307	FKTN	T111fs, T88fs	not provided, 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, Walker-Warburg congenital muscular dystrophy	Pathogenic/Likely pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26452263.	NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) GRCh37: Chr9:108397408 GRCh38: Chr9:105635127	FKTN	E417K, E285K, E394K	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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Dilated cardiomyopathy 1X, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided, not specified	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25733464.	NM_001079802.2(FKTN):c.910+13C>T GRCh37: Chr9:108377701 GRCh38: Chr9:105615420	FKTN		Walker-Warburg congenital muscular dystrophy, not specified, 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, Autosomal recessive limb-girdle muscular dystrophy type 2M	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23826965.	NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) GRCh37: Chr9:108380258 GRCh38: Chr9:105617977	FKTN	N310S, N178S, N287S	Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2M	Uncertain significance (Nov 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23826866.	NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) GRCh37: Chr9:108377580 GRCh38: Chr9:105615299	FKTN	V268L, V245L, V136L	Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2M	Uncertain significance (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22535967.	NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) GRCh37: Chr9:108366733 GRCh38: Chr9:105604452	FKTN	R203, R180, R71*	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, 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, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Walker-Warburg congenital muscular dystrophy ...see more	Pathogenic (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16707068.	NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) GRCh37: Chr9:108382329 GRCh38: Chr9:105620048	FKTN	G387R, G364R, G255R	Walker-Warburg congenital muscular dystrophy, 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, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Cardiovascular phenotype, not specified, not provided, Dilated cardiomyopathy 1X ...see more	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16706969.	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) GRCh37: Chr9:108366537 GRCh38: Chr9:105604256	FKTN	C137, C5, C114*	Walker-Warburg congenital muscular dystrophy, 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, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided	Pathogenic/Likely pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16257170.	NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) GRCh37: Chr9:108397340 GRCh38: Chr9:105635059	FKTN	F394S, F371S, F262S	Walker-Warburg congenital muscular dystrophy, 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, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16256671.	NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) GRCh37: Chr9:108337338 GRCh38: Chr9:105575057	FKTN	V9F	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, 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, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9352372.	NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) GRCh37: Chr9:108366764-108366765 GRCh38: Chr9:105604483-105604484	FKTN	D192, D215, D83*	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, 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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Pathogenic/Likely pathogenic (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9352273.	NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) GRCh37: Chr9:108366734 GRCh38: Chr9:105604453	FKTN	R203Q, R180Q, R71Q	Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, 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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2MMuscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4, not provided, Cardiovascular phenotype, not specified, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, ...see more	Benign/Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9352074.	NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) GRCh37: Chr9:108337354 GRCh38: Chr9:105575073	FKTN	T14M	not provided, 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 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9350975.	NM_001079802.2(FKTN):c.-45G>T GRCh37: Chr9:108337269 GRCh38: Chr9:105574988	FKTN		not specified, not provided, 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, Dilated cardiomyopathy 1X	Benign/Likely benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 321676.	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) GRCh37: Chr9:108380248 GRCh38: Chr9:105617967	FKTN	R307, R284, R175*	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, 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, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Pathogenic (Mar 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 320877.	NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) GRCh37: Chr9:108380249 GRCh38: Chr9:105617968	FKTN	R307Q, R284Q, R175Q	Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 320378.	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) GRCh37: Chr9:108382330-108382331 GRCh38: Chr9:105620049-105620050	FKTN	F258fs, F367fs, F390fs	FKTN-Related Disorders, 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, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive limb-girdle muscular dystrophy type 2M ...see more	Pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 78