ClinVar for MedGen (Select 140820) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335983	NM_001079802.2(FKTN):c.915G>C (p.Trp305Cys)	FKTN (W173C +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 3064136	NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)	MYH1, MYHAS (K432T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 1745140	NM_001079802.2(FKTN):c.506A>G (p.His169Arg)	FKTN (H37R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1726984	NM_001079802.2(FKTN):c.840dup (p.Leu281fs)	FKTN (L149fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1726869	NM_001079802.2(FKTN):c.69dup (p.Gln24fs)	FKTN (Q24fs)	Duplication (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1726685	NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)	FKTN (L59* +1 more)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1726110	NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)	FKTN (D173fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725624	NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)	FKTN (E117fs +2 more)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725583	NM_001079802.2(FKTN):c.378del (p.Trp126fs)	FKTN (W103fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725272	NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)	FKTN (I192fs +2 more)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1725035	NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)	FKTN (D125fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724953	NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)	FKTN (K11fs +2 more)	Indel (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724752	NM_001079802.2(FKTN):c.436dup (p.Arg146fs)	FKTN (R123fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724610	NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)	FKTN (R167fs +2 more)	Microsatellite (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1724541	NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)	FKTN (G111* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GLikely pathogenic
Select item 1656621	NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)	FKTN	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1582832	NM_001079802.2(FKTN):c.1044+17G>C	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X +5 more	GLikely benign
Select item 1447515	NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)	FKTN (M40T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GUncertain significance
Select item 1438053	NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)	FKTN (K296R +2 more)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +6 more	GUncertain significance
Select item 1423621	NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)	FKTN (L57P +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 1423345	NM_001079802.2(FKTN):c.530A>G (p.His177Arg)	FKTN (H177R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1402019	NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg)	FKTN (L263R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1332808	NM_001079802.2(FKTN):c.165+5G>A	FKTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2M +1 more	GConflicting classifications of pathogenicity
Select item 1252030	NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)	FKTN (Y26*)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GPathogenic
Select item 1199368	NM_001079802.2(FKTN):c.934A>G (p.Ile312Val)	FKTN (I180V +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GUncertain significance
Select item 1199367	NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg)	FKTN (K143R +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GUncertain significance
Select item 1199354	NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)	FKTN (K6N)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GUncertain significance
Select item 1199353	NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser)	FKTN (A252S +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GUncertain significance
Select item 1199352	NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly)	FKTN (D194G +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GUncertain significance
Select item 1135425	NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)	FKTN	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +5 more	GLikely benign
Select item 1075765	NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)	FKTN	Indel (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GPathogenic/Likely pathogenic
Select item 947398	NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)	FKTN (N310S +2 more)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 915230	NM_001079802.2(FKTN):c.*462T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 915229	NM_001079802.2(FKTN):c.*166A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 915193	NM_001079802.2(FKTN):c.705A>G (p.Pro235=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GConflicting classifications of pathogenicity
Select item 914630	NM_001079802.2(FKTN):c.*3778T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more	GConflicting classifications of pathogenicity
Select item 914595	NM_001079802.2(FKTN):c.*2592T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 914170	NM_001079802.2(FKTN):c.*4908A>G	FKTN	Single nucleotide variant (3 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 914130	NM_001079802.2(FKTN):c.*3516T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 914129	NM_001079802.2(FKTN):c.*3460G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 914128	NM_001079802.2(FKTN):c.*3352C>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 914081	NM_001079802.2(FKTN):c.*2464G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 914080	NM_001079802.2(FKTN):c.*2427G>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914042	NM_001079802.2(FKTN):c.*1229A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GConflicting classifications of pathogenicity
Select item 914041	NM_001079802.2(FKTN):c.*1175C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 913998	NM_001079802.2(FKTN):c.*100G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913997	NM_001079802.2(FKTN):c.*79C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913996	NM_001079802.2(FKTN):c.*71C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913951	NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)	FKTN (V199I +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more	GUncertain significance
Select item 913908	NM_001079802.2(FKTN):c.-114G>A	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913775	NM_001079802.2(FKTN):c.*4826A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 913774	NM_001079802.2(FKTN):c.*4705G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 913773	NM_001079802.2(FKTN):c.*4646A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 913730	NM_001079802.2(FKTN):c.*3312T>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 913686	NM_001079802.2(FKTN):c.*2298C>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913685	NM_001079802.2(FKTN):c.*2254A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 913641	NM_001079802.2(FKTN):c.*1010G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GUncertain significance
Select item 912670	NM_001079802.2(FKTN):c.*4501A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912669	NM_001079802.2(FKTN):c.*4491T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GUncertain significance
Select item 912668	NM_001079802.2(FKTN):c.*3985C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912631	NM_001079802.2(FKTN):c.*2902C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912630	NM_001079802.2(FKTN):c.*2674A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912629	NM_001079802.2(FKTN):c.*2640G>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912585	NM_001079802.2(FKTN):c.*2213A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912584	NM_001079802.2(FKTN):c.*1843A>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GConflicting classifications of pathogenicity
Select item 912583	NM_001079802.2(FKTN):c.*1638A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GConflicting classifications of pathogenicity
Select item 912537	NM_001079802.2(FKTN):c.*806G>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GConflicting classifications of pathogenicity
Select item 912536	NM_001079802.2(FKTN):c.*777C>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GConflicting classifications of pathogenicity
Select item 912535	NM_001079802.2(FKTN):c.*760A>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912534	NM_001079802.2(FKTN):c.*712C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912485	NM_001079802.2(FKTN):c.910+7T>G	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 912449	NM_001079802.2(FKTN):c.-39G>A	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1X +1 more	GUncertain significance
Select item 864257	NM_001079802.2(FKTN):c.711C>G (p.His237Gln)	FKTN (H214Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 861579	NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)	FKTN (F345L +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 859652	NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del)	FKTN	Deletion (inframe_deletion +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 852451	NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)	FKTN (E430K +2 more)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 842124	NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)	FKTN (R233* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 701478	NM_001079802.2(FKTN):c.207T>C (p.Asn69=)	FKTN	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 666969	NM_001079802.2(FKTN):c.528dup (p.His177fs)	FKTN (H154fs +2 more)	Duplication (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 654926	NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)	FKTN (A289fs +2 more)	Indel (frameshift variant +3 more)	FKTN-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 643980	NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)	FKTN (R47Q)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +7 more	GUncertain significance
Select item 597909	NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)	FKTN (Y329fs +2 more)	Duplication (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +7 more	GUncertain significance
Select item 558611	NM_001079802.2(FKTN):c.1173-2A>G	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 558217	NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)	FKTN (N399fs +2 more)	Deletion (frameshift variant +3 more)	Walker-Warburg congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 558161	NM_001079802.2(FKTN):c.1172+1G>A	FKTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1X +2 more	GPathogenic/Likely pathogenic
Select item 557908	NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)	FKTN (M245fs +2 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 557148	NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del)	FKTN	Deletion (inframe_deletion +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 557113	NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)	FKTN (E417* +2 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X +1 more	GConflicting classifications of pathogenicity
Select item 556831	NM_001079802.2(FKTN):c.1099del (p.Val367fs)	FKTN (V235fs +2 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 555661	NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)	FKTN	Deletion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 555058	NM_001079802.2(FKTN):c.*4859A>G	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 554414	NM_001079802.2(FKTN):c.557A>G (p.His186Arg)	FKTN (H186R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 554106	NM_001079802.2(FKTN):c.*4859A>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 553779	NM_001079802.2(FKTN):c.1201del (p.Trp401fs)	FKTN (L411fs +3 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 553589	NM_001079802.2(FKTN):c.-181+1G>C	FKTN, FKTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 553352	NM_001079802.2(FKTN):c.1173-1G>C	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GConflicting classifications of pathogenicity
Select item 552964	NM_001079802.2(FKTN):c.1173-1G>A	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 552263	NM_001079802.2(FKTN):c.106-2A>G	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 551769	NM_001079802.2(FKTN):c.370-2A>G	FKTN	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
Select item 551221	NM_001079802.2(FKTN):c.-1_2del (p.Met1del)	FKTN (M1del)	Deletion (inframe_deletion +3 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +3 more	GConflicting classifications of pathogenicity

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