ClinVar for MedGen (Select 413465) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1745140	NM_001079802.2(FKTN):c.506A>G (p.His169Arg)	FKTN (H37R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +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)	Walker-Warburg congenital muscular dystrophy +6 more	GLikely benign
Select item 1582832	NM_001079802.2(FKTN):c.1044+17G>C	FKTN	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +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)	Cardiovascular phenotype +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)	Walker-Warburg congenital muscular dystrophy +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 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 without intellectual disability), type B4 +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)	Autosomal recessive limb-girdle muscular dystrophy type 2M +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 without intellectual disability), type B4 +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)	Autosomal recessive limb-girdle muscular dystrophy type 2M +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)	Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more	GUncertain significance
Select item 1135425	NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)	FKTN	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +5 more	GLikely benign
Select item 914595	NM_001079802.2(FKTN):c.*2592T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +4 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 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 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)	Cardiovascular phenotype +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 654926	NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)	FKTN (A289fs +2 more)	Indel (frameshift variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +7 more	GConflicting classifications of pathogenicity
Select item 643980	NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)	FKTN (R47Q)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GUncertain significance
Select item 597909	NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)	FKTN (Y329fs +2 more)	Duplication (frameshift variant +3 more)	not provided +7 more	GUncertain significance
Select item 555661	NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)	FKTN	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more	GPathogenic/Likely pathogenic
Select item 551221	NM_001079802.2(FKTN):c.-1_2del (p.Met1del)	FKTN (M1del)	Deletion (inframe_deletion +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more	GConflicting classifications of pathogenicity
Select item 499551	NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)	FKTN (N446S +2 more)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +7 more	GUncertain significance
Select item 496331	NM_001079802.2(FKTN):c.648-1243G>T	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X +5 more	GPathogenic/Likely pathogenic
Select item 450015	NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser)	FKTN (G187S +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 407111	NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)	FKTN (R3G)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 364526	NM_001079802.2(FKTN):c.*5161C>T	FKTN	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 364523	NM_001079802.2(FKTN):c.*5003T>G	FKTN	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 364516	NM_001079802.2(FKTN):c.*3547C>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 364507	NM_001079802.2(FKTN):c.*2508G>T	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 364505	NM_001079802.2(FKTN):c.*2433G>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 364504	NM_001079802.2(FKTN):c.*2265T>C	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 364495	NM_001079802.2(FKTN):c.*954T>A	FKTN	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 364490	NM_001079802.2(FKTN):c.*42del	FKTN	Deletion (3 prime UTR variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more	GUncertain significance
Select item 364483	NM_001079802.2(FKTN):c.-181+1G>T	FKTN-AS1, FKTN	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more	GUncertain significance
Select item 290479	NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)	FKTN (R274W +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 290215	NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)	FKTN (P235T +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 288846	NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)	FKTN (F176V +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GUncertain significance
Select item 288661	NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)	FKTN (N122K +1 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more	GUncertain significance
Select item 286471	NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)	FKTN (R128Q +1 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +7 more	GUncertain significance
Select item 285381	NM_001079802.2(FKTN):c.531T>A (p.His177Gln)	FKTN (H177Q +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 283759	NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)	FKTN (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GUncertain significance
Select item 283622	NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	FKTN (S131fs +2 more)	Deletion (frameshift variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 283469	NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)	FKTN (H410N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 281839	NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	FKTN (T111fs +1 more)	Duplication (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +6 more	GPathogenic/Likely pathogenic
Select item 264522	NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)	FKTN (E417K +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 257334	NM_001079802.2(FKTN):c.910+13C>T	FKTN	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +6 more	GBenign/Likely benign
Select item 238269	NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)	FKTN (N310S +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +7 more	GConflicting classifications of pathogenicity
Select item 238268	NM_001079802.2(FKTN):c.802G>T (p.Val268Leu)	FKTN (V268L +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +7 more	GUncertain significance
Select item 225359	NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	FKTN (R203* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X +6 more	GPathogenic
Select item 167070	NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)	FKTN (G387R +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +9 more	GUncertain significance
Select item 167069	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN (C137* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X +6 more	GPathogenic/Likely pathogenic
Select item 162571	NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)	FKTN (F394S +2 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 162566	NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	FKTN (V9F)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GUncertain significance
Select item 93523	NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	FKTN (D192* +2 more)	Duplication (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GPathogenic/Likely pathogenic
Select item 93522	NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)	FKTN (R203Q +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +8 more	GBenign/Likely benign
Select item 93520	NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	FKTN (T14M)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +7 more	GUncertain significance
Select item 93509	NM_001079802.2(FKTN):c.-45G>T	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 3216	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN (R307* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X +7 more	GPathogenic
Select item 3208	NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	FKTN (R307Q +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 3203	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN (F258fs +2 more)	Duplication (frameshift variant +1 more)	FKTN-related disorder +8 more	GPathogenic

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Items: 78