C4284790[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 407111	NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)	FKTN (R3G)	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype +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 93520	NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)	FKTN (T14M)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1X +7 more	GUncertain significance
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 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 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 281839	NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	FKTN (T111fs +1 more)	Duplication (frameshift variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GPathogenic/Likely pathogenic
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 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 167069	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN (C137* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GPathogenic/Likely pathogenic
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)	Walker-Warburg congenital muscular dystrophy +6 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)	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 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 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 225359	NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	FKTN (R203* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +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)	Dilated cardiomyopathy 1X +8 more	GBenign/Likely benign
Select item 93523	NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	FKTN (D192* +2 more)	Duplication (nonsense +1 more)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
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 290215	NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)	FKTN (P235T +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 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 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 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)	Walker-Warburg congenital muscular dystrophy +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 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 3216	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN (R307* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more	GPathogenic
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 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 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 167070	NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)	FKTN (G387R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 3203	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN (F258fs +2 more)	Duplication (frameshift variant +1 more)	not provided +8 more	GPathogenic
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 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 264522	NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)	FKTN (E417K +2 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +8 more	GUncertain significance
Select item 654926	NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)	FKTN (A289fs +2 more)	Indel (frameshift variant +3 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 95456	NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	POMT1 (E44D)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +6 more	GConflicting classifications of pathogenicity
Select item 432550	NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr)	POMT1 (A264T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 95469	NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)	POMT1 (P273L +8 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more	GConflicting classifications of pathogenicity
Select item 288794	NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)	POMT1 (L285F +9 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more	GUncertain significance
Select item 286908	NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)	POMT1 (S305R +9 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more	GConflicting classifications of pathogenicity
Select item 1686087	NM_001077365.2(POMT1):c.986+1G>A	POMT1 (V324I)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GPathogenic/Likely pathogenic
Select item 502224	NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)	POMT1 (Y352* +9 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic/Likely pathogenic
Select item 1501993	NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu)	POMT1 (D326E +9 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GUncertain significance
Select item 95452	NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	POMT1 (Q385* +9 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more	GPathogenic
Select item 285835	NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser)	POMT1 (G406S +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
Select item 594265	NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)	POMT1 (L282fs +9 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic
Select item 285174	NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val)	POMT1 (A440V +9 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +4 more	GUncertain significance
Select item 912852	NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg)	POMT1 (G495R +9 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GUncertain significance
Select item 95459	NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	POMT1 (R522K +9 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more	GConflicting classifications of pathogenicity
Select item 288126	NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala)	POMT1 (P531A +9 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GUncertain significance
Select item 498220	NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)	POMT1 (A555V +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GConflicting classifications of pathogenicity
Select item 385078	NM_001077365.2(POMT1):c.1699-19A>G	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +4 more	GLikely benign
Select item 373779	NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu)	POMT1 (R622L +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +4 more	GUncertain significance
Select item 211945	NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr)	POMT1 (A709T +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GUncertain significance
Select item 1471141	NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys)	POMT1 (Y604C +10 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GUncertain significance
Select item 3255	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	POMT1 (D606fs +10 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +10 more	GPathogenic
Select item 211946	NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter)	POMT1 (R745* +10 more)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GUncertain significance
Select item 3221	NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	POMT2	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1207232	NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser)	POMT2 (G646S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +4 more	GUncertain significance
Select item 3218	NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	POMT2 (R638*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GPathogenic
Select item 194965	NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)	POMT2 (V635I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GConflicting classifications of pathogenicity
Select item 448118	NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp)	POMT2 (R624W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GUncertain significance
Select item 582117	NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp)	POMT2 (R434W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 663918	NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr)	POMT2 (S425T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 162597	NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	POMT2 (R421W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GConflicting classifications of pathogenicity
Select item 162595	NM_013382.7(POMT2):c.1183+14A>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GBenign/Likely benign
Select item 95532	NM_013382.7(POMT2):c.1106G>A (p.Arg369His)	POMT2	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 501800	NM_013382.7(POMT2):c.856C>T (p.Leu286Phe)	POMT2 (L286F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GUncertain significance
Select item 285619	NM_013382.7(POMT2):c.844C>T (p.Arg282Cys)	POMT2 (R282C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GUncertain significance
Select item 285067	NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	POMT2 (R99C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +5 more	GConflicting classifications of pathogenicity
Select item 95541	NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)	POMT2	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 497671	NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)	POMT2 (D77N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GConflicting classifications of pathogenicity
Select item 1393055	NM_013382.7(POMT2):c.118C>G (p.Arg40Gly)	POMT2 (R40G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +3 more	GUncertain significance
Select item 290603	NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)	FKRP (T4S)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 663660	NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)	FKRP (Y23C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +5 more	GUncertain significance
Select item 459228	NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)	FKRP (R41L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 788194	NM_024301.5(FKRP):c.168C>T (p.Phe56=)	FKRP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 999725	NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)	FKRP (S69P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more	GConflicting classifications of pathogenicity
Select item 96107	NM_024301.5(FKRP):c.249C>T (p.Ala83=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +7 more	GBenign/Likely benign
Select item 551007	NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)	FKRP (P89L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 554061	NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup)	FKRP	Duplication (inframe_insertion)	Muscular dystrophy-dystroglycanopathy type B5 +3 more	GUncertain significance

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