prunus fukuyama - ClinVar - NCBI

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The following term was not found in ClinVar: prunus.
Showing results for Prunus fukudana. Your search for Prunus fukudana retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7600	NM_000085.5(CLCNKB):c.230-1G>C	CLCNKB, LOC106501713	Single nucleotide variant (splice acceptor variant)	Bartter syndrome, type 3, with hypocalciuria	GPathogenic
Select item 7599	NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)	CLCNKB, LOC106501713 (W610* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 4B +2 more	GPathogenic
Select item 642934	NM_017739.4(POMGNT1):c.652+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GPathogenic/Likely pathogenic
Select item 201572	NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	SCN5A (F1616del +5 more)	Microsatellite (inframe_deletion)	Long QT syndrome +11 more	GPathogenic/Likely pathogenic
Select item 1020384	NM_006514.4(SCN10A):c.5587C>T (p.Arg1863Trp)	SCN10A (R1765W +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1792704	NM_006514.4(SCN10A):c.2531G>A (p.Arg844His)	SCN10A (R746H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 364483	NM_001079802.2(FKTN):c.-181+1G>T	FKTN, FKTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more	GUncertain significance
Select item 364484	NM_001079802.2(FKTN):c.-158G>C	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GBenign/Likely benign
Select item 364485	NM_001079802.2(FKTN):c.-136A>G	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +1 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 364486	NM_001079802.2(FKTN):c.-96T>C	FKTN	Single nucleotide variant (5 prime UTR variant +2 more)	Dilated cardiomyopathy 1X +2 more	GConflicting classifications of pathogenicity
Select item 162563	NM_001079802.2(FKTN):c.-90del	FKTN	Deletion (5 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 137383	NM_001079802.2(FKTN):c.-88-6T>C	FKTN	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 162564	NM_001079802.2(FKTN):c.-77A>G	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 93509	NM_001079802.2(FKTN):c.-45G>T	FKTN	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more	GBenign/Likely benign
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 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
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 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 162566	NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)	FKTN (V9F)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +7 more	GUncertain significance
Select item 93520	NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	FKTN (T14M)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +7 more	GUncertain significance
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 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 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 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 370768	NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)	FKTN (G37*)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 3200	NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	FKTN (R47*)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic
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 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 36140	NM_001079802.2(FKTN):c.166-6A>G	FKTN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 36139	NM_001079802.2(FKTN):c.166-4A>G	FKTN	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 93517	NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)	FKTN (R56C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 93518	NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	FKTN (R56H +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
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 3201	NM_001079802.2(FKTN):c.187_188del (p.Met63fs)	FKTN (M63fs +1 more)	Deletion (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 1447515	NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)	FKTN (M40T +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +7 more	GUncertain significance
Select item 550669	NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle)	FKTN	Deletion (inframe_indel +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
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 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 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 364487	NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala)	FKTN (T93A +1 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more	GUncertain significance
Select item 191237	NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe)	FKTN (C105F +1 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 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 3213	NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)	FKTN (A114T +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3206	NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	FKTN (Q116* +1 more)	Single nucleotide variant (nonsense +2 more)	Dilated cardiomyopathy 1X +2 more	GPathogenic
Select item 288661	NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)	FKTN (N122K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
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 3211	NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)	FKTN (G125S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 288016	NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)	FKTN (G125V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GUncertain significance
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 286471	NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)	FKTN (R128Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 364488	NM_001079802.2(FKTN):c.397A>G (p.Met133Val)	FKTN (M133V +2 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 3278991	NM_001079802.2(FKTN):c.398T>C (p.Met133Thr)	FKTN (M1T +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	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 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 167069	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN (C137* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 370133	NM_001079802.2(FKTN):c.429del (p.Asp144fs)	FKTN (D121fs +2 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic/Likely 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 283759	NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)	FKTN (R146Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GUncertain significance
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 501810	NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)	FKTN (G149R +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +4 more	GUncertain significance
Select item 3205	NM_001079802.2(FKTN):c.454dup (p.Ser152fs)	FKTN (S152fs +2 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1X +1 more	GPathogenic
Select item 283622	NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	FKTN (S131fs +2 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GPathogenic/Likely pathogenic
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 3214	NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)	FKTN (A170E +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1X +1 more	GLikely pathogenic
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 288846	NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)	FKTN (F176V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 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 285381	NM_001079802.2(FKTN):c.531T>A (p.His177Gln)	FKTN (H177Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 3210	NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)	FKTN (R179T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554414	NM_001079802.2(FKTN):c.557A>G (p.His186Arg)	FKTN (H186R +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 450015	NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser)	FKTN (G187S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
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 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 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 225359	NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	FKTN (R203* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GPathogenic
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 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 496331	NM_001079802.2(FKTN):c.648-1243G>T	FKTN	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more	GPathogenic/Likely pathogenic
Select item 371297	NM_001079802.2(FKTN):c.658_661del (p.Gln220fs)	FKTN (Q88fs +2 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
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 264299	NM_001079802.2(FKTN):c.681G>A (p.Leu227=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 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)	not provided +7 more	GConflicting classifications of pathogenicity
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 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 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 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 390531	NM_001079802.2(FKTN):c.766C>A (p.Arg256=)	FKTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1X +5 more	GConflicting classifications of pathogenicity
Select item 371050	NM_001079802.2(FKTN):c.770del (p.Ala257fs)	FKTN (A125fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1X +1 more	GLikely pathogenic
Select item 370420	NM_001079802.2(FKTN):c.780+1G>A	FKTN	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GLikely pathogenic
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 238268	NM_001079802.2(FKTN):c.802G>T (p.Val268Leu)	FKTN (V268L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GConflicting classifications of pathogenicity
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 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 912485	NM_001079802.2(FKTN):c.910+7T>G	FKTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1X +1 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 93525	NM_001079802.2(FKTN):c.910+14G>A	FKTN	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +5 more	GConflicting classifications of pathogenicity

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