C4284790[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167069	NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	FKTN (C137* +2 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 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 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 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 3216	NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	FKTN (R307* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1X +7 more	GPathogenic
Select item 3203	NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	FKTN (F258fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2M +8 more	GPathogenic
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 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 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 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 1458255	NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)	POMT1 (E44K)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GPathogenic/Likely pathogenic
Select item 95456	NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	POMT1 (E44D)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +6 more	GConflicting classifications of pathogenicity
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 431953	NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)	POMT1 (F60del +1 more)	Microsatellite (inframe_deletion +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
Select item 3244	NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	POMT1 (G65R +1 more)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic
Select item 502200	NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu)	POMT1 (P66L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +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 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 691982	NM_001077365.2(POMT1):c.280+1G>T	POMT1	Single nucleotide variant (splice donor variant +1 more)	not provided +4 more	GPathogenic
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 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 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 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 864585	NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)	POMT1	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely 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 505535	NM_001077365.2(POMT1):c.485del (p.Phe162fs)	POMT1 (F162fs +4 more)	Deletion (frameshift variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 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 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 817606	NM_001077365.2(POMT1):c.579_580del (p.Val195fs)	POMT1 (V165fs +4 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic/Likely 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 3243	NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	POMT1 (A200P +4 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +6 more	GPathogenic/Likely pathogenic
Select item 538720	NM_001077365.2(POMT1):c.605+1G>C	POMT1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +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 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 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 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 538723	NM_001077365.2(POMT1):c.699+62del	POMT1 (Q137fs +3 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GPathogenic/Likely pathogenic
Select item 1348183	NM_001077365.2(POMT1):c.699+67G>T	POMT1 (V202L)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GLikely pathogenic
Select item 593922	NM_001077365.2(POMT1):c.699+67G>A	POMT1 (V202I)	Single nucleotide variant (missense variant +2 more)	not provided +5 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 brain and eye anomalies), type A1 +5 more	GLikely pathogenic
Select item 95468	NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)	POMT1 (R265* +9 more)	Single nucleotide variant (nonsense +2 more)	Myopathy caused by variation in POMT1 +5 more	GPathogenic
Select item 95469	NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu)	POMT1 (P273L +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 3239	NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	POMT1 (Q303* +9 more)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic
Select item 286908	NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)	POMT1 (S305R +9 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +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 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 598282	NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)	POMT1 (Q361* +9 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +1 more	GPathogenic
Select item 95452	NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	POMT1 (Q385* +9 more)	Single nucleotide variant (nonsense +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GPathogenic
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 280760	NM_001077365.2(POMT1):c.1175+2dup	POMT1	Duplication (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3251	NM_001077365.2(POMT1):c.1175+1G>A	POMT1	Single nucleotide variant (splice donor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic
Select item 1066221	NM_001077365.2(POMT1):c.1176-2A>G	POMT1	Single nucleotide variant (splice acceptor variant)	not provided +4 more	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 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 872615	NM_001077365.2(POMT1):c.1196del (p.Leu399fs)	POMT1 (L304fs +9 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 523808	NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)	POMT1 (Q426* +9 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
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 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 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 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 471374	NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)	POMT1 (L476* +9 more)	Single nucleotide variant (nonsense +1 more)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 471375	NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)	POMT1 (W486S +9 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic
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 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 365280	NM_001077365.2(POMT1):c.1486+14G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
Select item 95459	NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	POMT1 (R522K +9 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
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 162591	NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)	POMT1 (S537R +9 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign/Likely benign
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 631540	NM_001077365.2(POMT1):c.1698+1G>A	POMT1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more	GConflicting classifications of pathogenicity
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 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 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 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 419671	NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)	POMT1 (R620* +10 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 194859	NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	POMT1 (R622* +10 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GPathogenic
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 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 3250	NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	POMT1 (A669T +10 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GPathogenic/Likely 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 195504	NM_001077365.2(POMT1):c.2004-1G>C	POMT1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +1 more	GPathogenic/Likely pathogenic
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 195505	NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	POMT1 (Y721* +10 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
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 brain and eye anomalies), type A1 +11 more	GPathogenic
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 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 3221	NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	POMT2	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +6 more	GPathogenic/Likely pathogenic
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 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 285067	NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	POMT2 (R99C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 408718	NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	FKRP (R110W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 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 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 554104	NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	FKRP (E260*)	Single nucleotide variant (nonsense)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic/Likely pathogenic
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 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

<< First< Prev

Page of 2