"Eurofins Ntd Llc (ga)"[submitter] AND "FKRP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96104	NM_024301.5(FKRP):c.-34C>T	FKRP	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 120180	NM_024301.5(FKRP):c.1A>G (p.Met1Val)	FKRP (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 290603	NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)	FKRP (T4S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 284975	NM_024301.5(FKRP):c.43A>C (p.Thr15Pro)	FKRP (T15P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288970	NM_024301.5(FKRP):c.54T>A (p.Leu18=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 556052	NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)	FKRP (W26*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2I +1 more	GPathogenic/Likely pathogenic
Select item 408722	NM_024301.5(FKRP):c.82C>G (p.Gln28Glu)	FKRP (Q28E)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 285735	NM_024301.5(FKRP):c.85C>T (p.His29Tyr)	FKRP (H29Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 96105	NM_024301.5(FKRP):c.135C>T (p.Ala45=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +6 more	GBenign
Select item 284482	NM_024301.5(FKRP):c.151G>A (p.Val51Ile)	FKRP (V51I)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 282866	NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)	FKRP (F56fs)	Duplication (frameshift variant)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic
Select item 283305	NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)	FKRP (E57K)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 594078	NM_024301.5(FKRP):c.187G>A (p.Val63Met)	FKRP (V63M)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 4229	NM_024301.5(FKRP):c.235G>A (p.Val79Met)	FKRP (V79M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 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 597390	NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)	FKRP (Y88*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 284644	NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)	FKRP (Q105*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 290217	NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)	FKRP (A107S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 500536	NM_024301.5(FKRP):c.336C>T (p.Ala112=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 96108	NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)	FKRP (A114G)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 500235	NM_024301.5(FKRP):c.344C>T (p.Ser115Leu)	FKRP (S115L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 282245	NM_024301.5(FKRP):c.374T>C (p.Phe125Ser)	FKRP (F125S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 288598	NM_024301.5(FKRP):c.385G>C (p.Val129Leu)	FKRP (V129L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 289472	NM_024301.5(FKRP):c.395G>A (p.Gly132Glu)	FKRP (G132E)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 283231	NM_024301.5(FKRP):c.401G>C (p.Arg134Pro)	FKRP (R134P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96109	NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)	FKRP (A135D)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 129057	NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	FKRP (R143S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +10 more	GBenign/Likely benign
Select item 289565	NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	FKRP (S152R)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 241457	NM_024301.5(FKRP):c.466G>A (p.Val156Met)	FKRP (V156M)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 96110	NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)	FKRP (S174C)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GBenign/Likely benign
Select item 598338	NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)	FKRP (L175P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 285724	NM_024301.5(FKRP):c.531G>A (p.Glu177=)	FKRP	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 285433	NM_024301.5(FKRP):c.544T>C (p.Tyr182His)	FKRP (Y182H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 282247	NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	FKRP (Y182C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic
Select item 285296	NM_024301.5(FKRP):c.557C>T (p.Pro186Leu)	FKRP (P186L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 502195	NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)	FKRP (A188T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 261691	NM_024301.5(FKRP):c.567C>T (p.Pro189=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 96111	NM_024301.5(FKRP):c.581T>A (p.Leu194Gln)	FKRP (L194Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96112	NM_024301.5(FKRP):c.585C>T (p.Asp195=)	FKRP	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +7 more	GBenign/Likely benign
Select item 282824	NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)	FKRP (G196R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 197342	NM_024301.5(FKRP):c.586G>A (p.Gly196Arg)	FKRP (G196R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 96113	NM_024301.5(FKRP):c.606G>A (p.Leu202=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 286820	NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)	FKRP (R205G)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 197339	NM_024301.5(FKRP):c.613C>T (p.Arg205Cys)	FKRP (R205C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 290094	NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)	FKRP (S211L)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 197340	NM_024301.5(FKRP):c.636G>A (p.Ala212=)	FKRP	Single nucleotide variant (synonymous variant)	FKRP-related condition +4 more	GBenign/Likely benign
Select item 197345	NM_024301.5(FKRP):c.647G>A (p.Arg216Gln)	FKRP (R216Q)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 287717	NM_024301.5(FKRP):c.675del (p.Thr226fs)	FKRP (T226fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 290929	NM_024301.5(FKRP):c.682C>T (p.Leu228Phe)	FKRP (L228F)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 96114	NM_024301.5(FKRP):c.696G>T (p.Ala232=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 499000	NM_024301.5(FKRP):c.703C>T (p.Leu235=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197343	NM_024301.5(FKRP):c.729G>A (p.Ala243=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 284875	NM_024301.5(FKRP):c.731G>T (p.Arg244Leu)	FKRP (R244L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 283038	NM_024301.5(FKRP):c.731G>A (p.Arg244His)	FKRP (R244H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 597598	NM_024301.5(FKRP):c.740del (p.Pro247fs)	FKRP (P247fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 498223	NM_024301.5(FKRP):c.737_749delinsG (p.Pro246_Thr250delinsArg)	FKRP	Indel (inframe_indel)	not provided	GUncertain significance
Select item 290588	NM_024301.5(FKRP):c.738_749del (p.Pro247_Thr250del)	FKRP	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 167071	NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)	FKRP (P247Q)	Single nucleotide variant (missense variant)	FKRP-related condition +4 more	GConflicting classifications of pathogenicity
Select item 290589	NM_024301.5(FKRP):c.749C>G (p.Thr250Arg)	FKRP (T250R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596825	NM_024301.5(FKRP):c.760C>T (p.Arg254Cys)	FKRP (R254C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501826	NM_024301.5(FKRP):c.775C>T (p.Arg259Cys)	FKRP (R259C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 284689	NM_024301.5(FKRP):c.803T>G (p.Leu268Arg)	FKRP (L268R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 129058	NM_024301.5(FKRP):c.822C>G (p.Ile274Met)	FKRP (I274M)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 498269	NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)	FKRP (R275C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Headache +20 more	GPathogenic/Likely pathogenic
Select item 289251	NM_024301.5(FKRP):c.885C>T (p.Arg295=)	FKRP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 286461	NM_024301.5(FKRP):c.892G>C (p.Gly298Arg)	FKRP (G298R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241460	NM_024301.5(FKRP):c.898G>A (p.Val300Met)	FKRP (V300M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 4232	NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	FKRP (V300A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +7 more	GPathogenic/Likely pathogenic
Select item 289722	NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)	FKRP (G302S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +6 more	GConflicting classifications of pathogenicity
Select item 96115	NM_024301.5(FKRP):c.941C>T (p.Thr314Met)	FKRP (T314M)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic
Select item 197346	NM_024301.5(FKRP):c.946C>T (p.Pro316Ser)	FKRP (P316S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 197347	NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	FKRP (P316R)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 289919	NM_024301.5(FKRP):c.962_970dup (p.Ala321_Arg323dup)	FKRP	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 197349	NM_024301.5(FKRP):c.954C>T (p.Cys318=)	FKRP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 197348	NM_024301.5(FKRP):c.964C>G (p.Leu322Val)	FKRP (L322V)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 285720	NM_024301.5(FKRP):c.969C>T (p.Arg323=)	FKRP	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 289473	NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)	FKRP (E324*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 286718	NM_024301.5(FKRP):c.982_984del (p.Tyr328del)	FKRP (Y328del)	Deletion (inframe_deletion)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 283265	NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)	FKRP (A335T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 497381	NM_024301.5(FKRP):c.1007C>T (p.Ala336Val)	FKRP (A336V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 558504	NM_024301.5(FKRP):c.1016G>A (p.Arg339His)	FKRP (R339H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241455	NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 283765	NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys)	FKRP (R352C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 167072	NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	FKRP (P358L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 285320	NM_024301.5(FKRP):c.1087G>T (p.Val363Leu)	FKRP (V363L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197341	NM_024301.5(FKRP):c.1115T>G (p.Val372Gly)	FKRP (V372G)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 598298	NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)	FKRP (R379Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GUncertain significance
Select item 289250	NM_024301.5(FKRP):c.1141del (p.Ala381fs)	FKRP (A381fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 497652	NM_024301.5(FKRP):c.1137G>T (p.Arg379=)	FKRP	Single nucleotide variant (synonymous variant)	Walker-Warburg congenital muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 211005	NM_024301.5(FKRP):c.1140G>A (p.Gly380=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 291171	NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)	FKRP (S385L)	Single nucleotide variant (missense variant)	FKRP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 137380	NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	FKRP (V393I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more	GConflicting classifications of pathogenicity
Select item 197350	NM_024301.5(FKRP):c.1179A>G (p.Val393=)	FKRP	Single nucleotide variant (synonymous variant)	FKRP-related condition +4 more	GBenign/Likely benign
Select item 596929	NM_024301.5(FKRP):c.1236C>T (p.His412=)	FKRP	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 288628	NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs)	FKRP (P419fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 289096	NM_024301.5(FKRP):c.1267del (p.Arg423fs)	FKRP (R423fs)	Deletion (frameshift variant)	Walker-Warburg congenital muscular dystrophy +2 more	GPathogenic
Select item 282281	NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro)	FKRP (R423P)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +1 more	GUncertain significance
Select item 289093	NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)	FKRP (N424*)	Insertion (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +3 more	GPathogenic/Likely pathogenic
Select item 449685	NM_024301.5(FKRP):c.1270A>C (p.Asn424His)	FKRP (N424H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance

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