ClinVar for MedGen (Select 924974) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240192	NM_001077365.2(POMT1):c.2019del (p.Ser674fs)	POMT1 (S297fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 3240191	NM_001077365.2(POMT1):c.1356_1357insTAAGTGTTCC (p.Val453Ter)	POMT1 (V301* +10 more)	Insertion (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 3240190	NM_001077365.2(POMT1):c.2014_2015del (p.Gln672fs)	POMT1 (Q295fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 3240189	NM_001077365.2(POMT1):c.1806dup (p.Val603fs)	POMT1 (V226fs +11 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 3240188	NM_001077365.2(POMT1):c.577_596del (p.Thr193fs)	POMT1 (T139fs +4 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 3240187	NM_001077365.2(POMT1):c.1911del (p.Thr638fs)	POMT1 (T261fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 3240186	NM_001077365.2(POMT1):c.700-2A>G	POMT1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 3240185	NM_001077365.2(POMT1):c.230-2A>T	POMT1	Single nucleotide variant (splice acceptor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 3064841	NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)	POMT1 (E40* +2 more)	Single nucleotide variant (nonsense +4 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2948069	NM_001077365.2(POMT1):c.1977del (p.Gln660fs)	POMT1 (Q606fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 2678023	NM_001077365.2(POMT1):c.1758del (p.Ile587fs)	POMT1 (I210fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678022	NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)	POMT1 (Q231fs +11 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678021	NM_001077365.2(POMT1):c.699+67dup	POMT1 (V202fs)	Duplication (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678020	NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)	POMT1 (C244fs +11 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678019	NM_001077365.2(POMT1):c.389del (p.His130fs)	POMT1 (H100fs +3 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678018	NM_001077365.2(POMT1):c.2140del (p.Trp714fs)	POMT1 (W337fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678017	NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)	POMT1 (H284fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678016	NM_001077365.2(POMT1):c.1550del (p.Asn517fs)	POMT1 (N140fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678014	NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)	POMT1 (W217* +11 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678013	NM_001077365.2(POMT1):c.389_407del (p.His130fs)	POMT1 (H100fs +3 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678012	NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)	POMT1	Deletion (non-coding transcript variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 2678011	NM_001077365.2(POMT1):c.699+24C>A	POMT1 (C124* +3 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 2678010	NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)	POMT1 (I198fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic
Select item 2678009	NM_001077365.2(POMT1):c.103dup (p.Thr35fs)	POMT1 (T35fs)	Duplication (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678008	NM_001077365.2(POMT1):c.699+14_699+17dup	POMT1 (Q122fs +3 more)	Duplication (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678007	NM_001077365.2(POMT1):c.230-2A>G	POMT1	Single nucleotide variant (splice acceptor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678006	NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)	POMT1 (Y54*)	Single nucleotide variant (nonsense +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 2678005	NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)	POMT1 (W201* +11 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678004	NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)	POMT1 (L22fs +10 more)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 2678003	NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)	POMT1 (W106* +4 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678002	NM_001077365.2(POMT1):c.583del (p.Val195fs)	POMT1 (V141fs +4 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678001	NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)	POMT1 (Y116fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 2678000	NM_001077365.2(POMT1):c.1272+2dup	POMT1	Duplication (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677999	NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)	POMT1 (F107del +9 more)	Microsatellite (inframe deletion +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677998	NM_001077365.2(POMT1):c.1145del (p.Val382fs)	POMT1 (V230fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677997	NM_001077365.2(POMT1):c.1436del (p.Gly479fs)	POMT1 (G102fs +10 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677995	NM_001077365.2(POMT1):c.291del (p.Ser97fs)	POMT1 (S43fs +2 more)	Deletion (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic
Select item 2677994	NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)	POMT1 (Y36fs)	Insertion (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2677993	NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)	POMT1 (R182* +9 more)	Single nucleotide variant (nonsense +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 2677992	NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)	POMT1 (K118fs +4 more)	Indel (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2664867	NM_001077365.2(POMT1):c.[2101dup];[512T>G]			Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2636357	NM_007171.4(POMT1):c.429_430del	POMT1	Microsatellite (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +1 more	GPathogenic/Likely pathogenic
Select item 2181474	NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)	POMT1 (N298fs +9 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic/Likely pathogenic
Select item 1809727	NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)	POMT1 (T281fs +9 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1698626	NM_001077365.2(POMT1):c.699+68T>C	POMT1 (V202A)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more	GLikely pathogenic
Select item 1696831	NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs)	POMT1 (V213fs +9 more)	Microsatellite (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
Select item 1696829	NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)	POMT1 (G321R +9 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
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 1656621	NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)	FKTN	Single nucleotide variant (synonymous variant +3 more)	Walker-Warburg congenital muscular dystrophy +6 more	GLikely benign
Select item 1582832	NM_001079802.2(FKTN):c.1044+17G>C	FKTN	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GLikely benign
Select item 1579409	NM_024301.5(FKRP):c.558C>A (p.Pro186=)	FKRP	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GLikely benign
Select item 1519039	NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser)	FKRP (C375S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GUncertain significance
Select item 1510930	NM_024301.5(FKRP):c.693G>C (p.Trp231Cys)	FKRP (W231C)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
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 1497287	NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)	POMT1 (R75C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GPathogenic/Likely pathogenic
Select item 1484362	NM_024301.5(FKRP):c.959G>A (p.Arg320His)	FKRP (R320H)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 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 1458255	NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)	POMT1 (E44K)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 1447515	NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)	FKTN (M40T +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1438053	NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)	FKTN (K296R +2 more)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 1423621	NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)	FKTN (L57P +1 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +6 more	GUncertain significance
Select item 1423345	NM_001079802.2(FKTN):c.530A>G (p.His177Arg)	FKTN (H177R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1403211	NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)	FKRP (G354E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GUncertain significance
Select item 1402019	NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg)	FKTN (L263R +2 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1401035	NM_024301.5(FKRP):c.928G>C (p.Glu310Gln)	FKRP (E310Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +4 more	GUncertain significance
Select item 1399708	NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)	POMT1 (R33*)	Single nucleotide variant (nonsense +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 1396847	NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)	FKRP (R181C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GUncertain significance
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 1360015	NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs)	POMT1 (G38fs +2 more)	Deletion (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 1356546	NM_024301.5(FKRP):c.434T>G (p.Val145Gly)	FKRP (V145G)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1348183	NM_001077365.2(POMT1):c.699+67G>T	POMT1 (V202L)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GLikely pathogenic
Select item 1346345	NM_024301.5(FKRP):c.835T>C (p.Trp279Arg)	FKRP (W279R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +4 more	GUncertain significance
Select item 1343631	NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)	POMT1 (V529fs +10 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic/Likely pathogenic
Select item 1306894	NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)	FKRP (T294K)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +5 more	GUncertain significance
Select item 1252077	NM_001077365.2(POMT1):c.1175+3del	POMT1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GPathogenic
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 1192212	NM_001077365.2(POMT1):c.1272+1G>A	POMT1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic
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 1120088	NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)	POMT1 (Q267* +9 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +1 more	GPathogenic
Select item 1066221	NM_001077365.2(POMT1):c.1176-2A>G	POMT1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GLikely pathogenic
Select item 1043904	NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)	FKRP (V398I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GUncertain significance
Select item 1036989	NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)	FKRP (G373S)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +5 more	GUncertain significance
Select item 1032525	NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)	POMT1 (F182C +4 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GUncertain significance
Select item 1027728	NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr)	POMT1 (A478T +9 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GUncertain significance
Select item 1024939	NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)	FKRP (G298A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GUncertain significance
Select item 1021797	NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)	FKRP (D206N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy type B5 +4 more	GUncertain significance
Select item 1014431	NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)	FKRP (S494R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
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 982897	NM_001077365.2(POMT1):c.427+1_427+2insA	POMT1	Insertion (splice donor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 973344	NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr)	DAG1 (P732T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GUncertain significance
Select item 966847	NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)	FKRP (E399K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GUncertain significance
Select item 960132	NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)	FKRP (N424S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GUncertain significance
Select item 956205	NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)	POMT1 (E53K +2 more)	Single nucleotide variant (nonsense +4 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GPathogenic/Likely pathogenic
Select item 953876	NM_024301.5(FKRP):c.633G>A (p.Ser211=)	FKRP	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +5 more	GConflicting classifications of pathogenicity
Select item 953462	NM_001077365.2(POMT1):c.229+2T>C	POMT1	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GLikely pathogenic
Select item 936918	NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)	FKRP (G476E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +6 more	GUncertain significance
Select item 931876	NM_001077365.2(POMT1):c.700-17C>T	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	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 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

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