ClinVar for MedGen (Select 339580) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 234

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000321.	NM_024301.5(FKRP):c.10A>G (p.Thr4Ala) GRCh37: Chr19:47258717 GRCh38: Chr19:46755460	FKRP	T4A	Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype	Uncertain significance (Jul 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19101672.	NM_024301.5(FKRP):c.934C>G (p.Arg312Gly) GRCh37: Chr19:47259641 GRCh38: Chr19:46756384	FKRP	R312G	Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18061863.	NM_024301.5(FKRP):c.526C>G (p.Arg176Gly) GRCh37: Chr19:47259233 GRCh38: Chr19:46755976	FKRP	R176G	Autosomal recessive limb-girdle muscular dystrophy type 2I	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 18022014.	NM_024301.5(FKRP):c.587G>A (p.Gly196Glu) GRCh37: Chr19:47259294 GRCh38: Chr19:46756037	FKRP	G196E	Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 17005735.	NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys) GRCh37: Chr19:47260034 GRCh38: Chr19:46756777	FKRP	E443K	Autosomal recessive limb-girdle muscular dystrophy type 2I	Likely pathogenic (Aug 8, 2022)	no assertion criteria provided
Select item 15794096.	NM_024301.5(FKRP):c.558C>A (p.Pro186=) GRCh37: Chr19:47259265 GRCh38: Chr19:46756008	FKRP		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy	Likely benign (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 15190397.	NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) GRCh37: Chr19:47259830 GRCh38: Chr19:46756573	FKRP	C375S	Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15109308.	NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) GRCh37: Chr19:47259400 GRCh38: Chr19:46756143	FKRP	W231C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14843629.	NM_024301.5(FKRP):c.959G>A (p.Arg320His) GRCh37: Chr19:47259666 GRCh38: Chr19:46756409	FKRP	R320H	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147631510.	NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) GRCh37: Chr19:47259353 GRCh38: Chr19:46756096	FKRP	R216W	Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype, not specified	Conflicting interpretations of pathogenicity (Aug 2, 2023)	criteria provided, conflicting interpretations
Select item 140321111.	NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu) GRCh37: Chr19:47259768 GRCh38: Chr19:46756511	FKRP	G354E	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140103512.	NM_024301.5(FKRP):c.928G>C (p.Glu310Gln) GRCh37: Chr19:47259635 GRCh38: Chr19:46756378	FKRP	E310Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139684713.	NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) GRCh37: Chr19:47259248 GRCh38: Chr19:46755991	FKRP	R181C	Cardiovascular phenotype, not provided, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Uncertain significance (Apr 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 135654614.	NM_024301.5(FKRP):c.434T>G (p.Val145Gly) GRCh37: Chr19:47259141 GRCh38: Chr19:46755884	FKRP	V145G	Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy, Inborn genetic diseases	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134634515.	NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) GRCh37: Chr19:47259542 GRCh38: Chr19:46756285	FKRP	W279R	Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133489316.	NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) GRCh37: Chr19:47259210 GRCh38: Chr19:46755953	FKRP	C168Y	Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Likely pathogenic	criteria provided, single submitter
Select item 130689417.	NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) GRCh37: Chr19:47259588 GRCh38: Chr19:46756331	FKRP	T294K	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119935118.	NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) GRCh37: Chr19:47259561 GRCh38: Chr19:46756304	FKRP	E285A	Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119935019.	NM_024301.5(FKRP):c.119G>A (p.Arg40His) GRCh37: Chr19:47258826 GRCh38: Chr19:46755569	FKRP	R40H	Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119930820.	NM_024301.5(FKRP):c.282C>T (p.Pro94=) GRCh37: Chr19:47258989 GRCh38: Chr19:46755732	FKRP		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Conflicting interpretations of pathogenicity (Jul 14, 2021)	criteria provided, conflicting interpretations
Select item 117310821.	NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) GRCh37: Chr19:47259837 GRCh38: Chr19:46756580	FKRP	Q377R	Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (May 19, 2021)	criteria provided, single submitter
Select item 106802022.	NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) GRCh37: Chr19:47258936 GRCh38: Chr19:46755679	FKRP	Q77*	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104778923.	NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) GRCh37: Chr19:47258942-47258944 GRCh38: Chr19:46755685-46755687	FKRP	V81del	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 104390424.	NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) GRCh37: Chr19:47259899 GRCh38: Chr19:46756642	FKRP	V398I	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype	Uncertain significance (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104367025.	NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) GRCh37: Chr19:47259012 GRCh38: Chr19:46755755	FKRP	A102E	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104209426.	NM_024301.5(FKRP):c.797C>T (p.Ala266Val) GRCh37: Chr19:47259504 GRCh38: Chr19:46756247	FKRP	A266V	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 103923727.	NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) GRCh37: Chr19:47259677 GRCh38: Chr19:46756420	FKRP	E324Q	Walker-Warburg congenital muscular dystrophy, not specified	Uncertain significance (Jul 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103698928.	NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) GRCh37: Chr19:47259824 GRCh38: Chr19:46756567	FKRP	G373S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103619029.	NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr) GRCh37: Chr19:47259758 GRCh38: Chr19:46756501	FKRP	A351T	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 102665030.	NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) GRCh37: Chr19:47259653 GRCh38: Chr19:46756396	FKRP	P316A	Walker-Warburg congenital muscular dystrophy	Likely pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 102531631.	NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg) GRCh37: Chr19:47260184 GRCh38: Chr19:46756927	FKRP	G493R	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 102493932.	NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) GRCh37: Chr19:47259600 GRCh38: Chr19:46756343	FKRP	G298A	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102383933.	NM_024301.5(FKRP):c.1407G>A (p.Leu469=) GRCh37: Chr19:47260114 GRCh38: Chr19:46756857	FKRP		Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102179734.	NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) GRCh37: Chr19:47259323 GRCh38: Chr19:46756066	FKRP	D206N	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101924735.	NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) GRCh37: Chr19:47260014 GRCh38: Chr19:46756757	FKRP	R436Q	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 101443136.	NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) GRCh37: Chr19:47260189 GRCh38: Chr19:46756932	FKRP	S494R	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101058837.	NM_024301.5(FKRP):c.809G>A (p.Arg270His) GRCh37: Chr19:47259516 GRCh38: Chr19:46756259	FKRP	R270H	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100151938.	NM_024301.5(FKRP):c.527G>A (p.Arg176Gln) GRCh37: Chr19:47259234 GRCh38: Chr19:46755977	FKRP	R176Q	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99972539.	NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) GRCh37: Chr19:47258912 GRCh38: Chr19:46755655	FKRP	S69P	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99118440.	NM_024301.5(FKRP):c.849G>A (p.Arg283=) GRCh37: Chr19:47259556 GRCh38: Chr19:46756299	FKRP		Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Likely benign (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99118341.	NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser) GRCh37: Chr19:47259252 GRCh38: Chr19:46755995	FKRP	Y182S	Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99118242.	NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) GRCh37: Chr19:47259102 GRCh38: Chr19:46755845	FKRP	G132A	not specified	Uncertain significance (Jul 24, 2023)	criteria provided, single submitter
Select item 97223043.	NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) GRCh37: Chr19:47260136 GRCh38: Chr19:46756879	FKRP	V477I	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 97126344.	NM_024301.5(FKRP):c.725C>T (p.Ala242Val) GRCh37: Chr19:47259432 GRCh38: Chr19:46756175	FKRP	A242V	not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96845345.	NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) GRCh37: Chr19:47259101 GRCh38: Chr19:46755844	FKRP	G132R	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96716546.	NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) GRCh37: Chr19:47259384 GRCh38: Chr19:46756127	FKRP	T226N	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 96684747.	NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) GRCh37: Chr19:47259902 GRCh38: Chr19:46756645	FKRP	E399K	Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Oct 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96667448.	NM_024301.5(FKRP):c.83A>G (p.Gln28Arg) GRCh37: Chr19:47258790 GRCh38: Chr19:46755533	FKRP	Q28R	Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96660549.	NM_024301.5(FKRP):c.299G>A (p.Arg100His) GRCh37: Chr19:47259006 GRCh38: Chr19:46755749	FKRP	R100H	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 96658450.	NM_024301.5(FKRP):c.106G>T (p.Ala36Ser) GRCh37: Chr19:47258813 GRCh38: Chr19:46755556	FKRP	A36S	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 96624451.	NM_024301.5(FKRP):c.777C>T (p.Arg259=) GRCh37: Chr19:47259484 GRCh38: Chr19:46756227	FKRP		Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Likely benign (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96013252.	NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) GRCh37: Chr19:47259978 GRCh38: Chr19:46756721	FKRP	N424S	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95843753.	NM_024301.5(FKRP):c.315G>T (p.Gln105His) GRCh37: Chr19:47259022 GRCh38: Chr19:46755765	FKRP	Q105H	not provided, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95387654.	NM_024301.5(FKRP):c.633G>A (p.Ser211=) GRCh37: Chr19:47259340 GRCh38: Chr19:46756083	FKRP		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 94417355.	NM_024301.5(FKRP):c.32C>T (p.Ala11Val) GRCh37: Chr19:47258739 GRCh38: Chr19:46755482	FKRP	A11V	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93999156.	NM_024301.5(FKRP):c.206_208del (p.Ser69del) GRCh37: Chr19:47258911-47258913 GRCh38: Chr19:46755654-46755656	FKRP	S69del	Walker-Warburg congenital muscular dystrophy	Likely pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 93905057.	NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) GRCh37: Chr19:47259452 GRCh38: Chr19:46756195	FKRP	A249T	Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (Dec 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93691858.	NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) GRCh37: Chr19:47260134 GRCh38: Chr19:46756877	FKRP	G476E	Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93486359.	NM_024301.5(FKRP):c.780G>C (p.Glu260Asp) GRCh37: Chr19:47259487 GRCh38: Chr19:46756230	FKRP	E260D	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 93397460.	NM_024301.5(FKRP):c.569G>A (p.Arg190His) GRCh37: Chr19:47259276 GRCh38: Chr19:46756019	FKRP	R190H	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85940261.	NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) GRCh37: Chr19:47259470 GRCh38: Chr19:46756213	FKRP	W255R	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85818362.	NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) GRCh37: Chr19:47259198 GRCh38: Chr19:46755941	FKRP	N164S	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 85790963.	NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) GRCh37: Chr19:47259030 GRCh38: Chr19:46755773	FKRP	L108P	Walker-Warburg congenital muscular dystrophy, not provided, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 85408564.	NM_024301.5(FKRP):c.838G>A (p.Glu280Lys) GRCh37: Chr19:47259545 GRCh38: Chr19:46756288	FKRP	E280K	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85204265.	NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) GRCh37: Chr19:47259843 GRCh38: Chr19:46756586	FKRP	R379P	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 85188566.	NM_024301.5(FKRP):c.172G>A (p.Ala58Thr) GRCh37: Chr19:47258879 GRCh38: Chr19:46755622	FKRP	A58T	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 84988367.	NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) GRCh37: Chr19:47259501 GRCh38: Chr19:46756244	FKRP	R265L	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83438068.	NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr) GRCh37: Chr19:47258885 GRCh38: Chr19:46755628	FKRP	D60Y	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 80480769.	NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) GRCh37: Chr19:47259706-47259707 GRCh38: Chr19:46756449-46756450	FKRP		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80094770.	NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) GRCh37: Chr19:47260071 GRCh38: Chr19:46756814	FKRP	A455V	Autosomal recessive limb-girdle muscular dystrophy type 2I	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 78819471.	NM_024301.5(FKRP):c.168C>T (p.Phe56=) GRCh37: Chr19:47258875 GRCh38: Chr19:46755618	FKRP		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76247572.	NM_024301.5(FKRP):c.561C>G (p.Ala187=) GRCh37: Chr19:47259268 GRCh38: Chr19:46756011	FKRP		Walker-Warburg congenital muscular dystrophy	Likely benign (Feb 6, 2021)	criteria provided, single submitter
Select item 73082073.	NM_024301.5(FKRP):c.1368C>T (p.Gly456=) GRCh37: Chr19:47260075 GRCh38: Chr19:46756818	FKRP		Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Likely benign (Mar 29, 2020)	criteria provided, multiple submitters, no conflicts
Select item 71444074.	NM_024301.5(FKRP):c.9C>T (p.Leu3=) GRCh37: Chr19:47258716 GRCh38: Chr19:46755459	FKRP		Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype	Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70109875.	NM_024301.5(FKRP):c.1167G>A (p.Glu389=) GRCh37: Chr19:47259874 GRCh38: Chr19:46756617	FKRP		Walker-Warburg congenital muscular dystrophy	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 69691876.	NM_024301.5(FKRP):c.1119C>A (p.Gly373=) GRCh37: Chr19:47259826 GRCh38: Chr19:46756569	FKRP		Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69402877.	NM_024301.5(FKRP):c.960_970del (p.Ala321fs) GRCh37: Chr19:47259664-47259674 GRCh38: Chr19:46756407-46756417	FKRP	A321fs	Autosomal recessive limb-girdle muscular dystrophy type 2I	Pathogenic (Oct 3, 2019)	criteria provided, single submitter
Select item 66573278.	NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) GRCh37: Chr19:47259846 GRCh38: Chr19:46756589	FKRP	G380E	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 66517879.	NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) GRCh37: Chr19:47259679 GRCh38: Chr19:46756422	FKRP	E324D	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66454580.	NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) GRCh37: Chr19:47258711 GRCh38: Chr19:46755454	FKRP	R2W	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 66427381.	NM_024301.5(FKRP):c.948del (p.Cys317fs) GRCh37: Chr19:47259650 GRCh38: Chr19:46756393	FKRP	C317fs	not provided, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	Pathogenic (Feb 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66366082.	NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) GRCh37: Chr19:47258775 GRCh38: Chr19:46755518	FKRP	Y23C	Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65665183.	NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) GRCh37: Chr19:47259640 GRCh38: Chr19:46756383	FKRP	E311D	Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65488384.	NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) GRCh37: Chr19:47260003 GRCh38: Chr19:46756746	FKRP	W432*	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Likely pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65326185.	NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) GRCh37: Chr19:47259023 GRCh38: Chr19:46755766	FKRP	P106S	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65038286.	NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) GRCh37: Chr19:47259149 GRCh38: Chr19:46755892	FKRP	L148I	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64499887.	NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) GRCh37: Chr19:47259683 GRCh38: Chr19:46756426	FKRP	A326T	Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, not provided	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64253888.	NM_024301.5(FKRP):c.551C>T (p.Ala184Val) GRCh37: Chr19:47259258 GRCh38: Chr19:46756001	FKRP	A184V	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59833889.	NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) GRCh37: Chr19:47259231 GRCh38: Chr19:46755974	FKRP	L175P	Cardiovascular phenotype, not provided, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59829890.	NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) GRCh37: Chr19:47259843 GRCh38: Chr19:46756586	FKRP	R379Q	Cardiovascular phenotype, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59692991.	NM_024301.5(FKRP):c.1236C>T (p.His412=) GRCh37: Chr19:47259943 GRCh38: Chr19:46756686	FKRP		Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 58587292.	NM_024301.5(FKRP):c.517G>A (p.Val173Ile) GRCh37: Chr19:47259224 GRCh38: Chr19:46755967	FKRP	V173I	not provided, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 57930193.	NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) GRCh37: Chr19:47259558 GRCh38: Chr19:46756301	FKRP	L284P	Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57796994.	NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) GRCh37: Chr19:47260070 GRCh38: Chr19:46756813	FKRP	A455S	Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2I, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5	Conflicting interpretations of pathogenicity (Apr 14, 2023)	criteria provided, conflicting interpretations
Select item 57628295.	NM_024301.5(FKRP):c.750G>A (p.Thr250=) GRCh37: Chr19:47259457 GRCh38: Chr19:46756200	FKRP		Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57553496.	NM_024301.5(FKRP):c.185C>T (p.Ala62Val) GRCh37: Chr19:47258892 GRCh38: Chr19:46755635	FKRP	A62V	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 57123597.	NM_024301.5(FKRP):c.706C>G (p.Leu236Val) GRCh37: Chr19:47259413 GRCh38: Chr19:46756156	FKRP	L236V	Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, Autosomal recessive limb-girdle muscular dystrophy type 2I	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57123198.	NM_024301.5(FKRP):c.1397G>A (p.Arg466His) GRCh37: Chr19:47260104 GRCh38: Chr19:46756847	FKRP	R466H	not provided, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56725999.	NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) GRCh37: Chr19:47259005 GRCh38: Chr19:46755748	FKRP	R100C	Walker-Warburg congenital muscular dystrophy	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 558691100.	NM_024301.5(FKRP):c.688_722del (p.Gly230fs) GRCh37: Chr19:47259388-47259422 GRCh38: Chr19:46756131-46756165	FKRP	G230fs	Autosomal recessive limb-girdle muscular dystrophy type 2I	Likely pathogenic (Jun 5, 2018)	criteria provided, single submitter

<< First< Prev

Page of 3