ClinVar for MedGen (Select 419194) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 181

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339462	NM_024301.5(FKRP):c.159_160delinsTT (p.Arg54Trp)	FKRP (R54W)	Indel (missense variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 3338962	NM_213599.3(ANO5):c.986T>G (p.Leu329Ter)	ANO5 (L314* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 3233985	NM_000232.5(SGCB):c.518dup (p.Arg174fs)	SGCB (R174fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 3063866	NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)	CAPN3 (S173F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 3063660	NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)	FKRP (Q437fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 2680368	NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)	CAPN3 (R350G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely 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 2577157	NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)	FKRP (A157P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2506065	NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)	CAPN3, LOC126862115 (G127E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 2504043	NC_000009.11:g.(119449661_119459940)_(119463580_?)del	ASTN2, TRIM32	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 2503997	NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)	DYSF (F1197fs +7 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 2501243	NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)	TRAPPC11 (L918fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 2501144	NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)	DYSF (E1000* +7 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GLikely pathogenic
Select item 2500947	NM_000070.3(CAPN3):c.1354+129T>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy	GUncertain significance
Select item 2500860	NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)	PLEC	Deletion (inframe_deletion +2 more)	Autosomal recessive limb-girdle muscular dystrophy	GUncertain significance
Select item 2445910	NM_000023.4(SGCA):c.85dup (p.His29fs)	SGCA (H29fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 2445861	NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)	POMT2 (W262*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 2429327	NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)	SGCA (Y90C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GLikely pathogenic
Select item 2429325	NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del	ANO5	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 2429238	NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)	POMT2 (W262*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2429195	NM_001130987.2(DYSF):c.5885-1G>A	DYSF	Single nucleotide variant (splice acceptor variant)	Qualitative or quantitative defects of dysferlin +1 more	GLikely pathogenic
Select item 2203542	NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)	SGCB (T182A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GPathogenic/Likely pathogenic
Select item 1878371	NC_000009.11:g.(?_119449580)_(119463580_?)del	ASTN2, TRIM32	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 1804787	NC_000009.11:g.(134388719_134390812)_(134399194_?)del	POMT1, UCK1	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1802145	NM_213599.3(ANO5):c.[1520del];[155A>G]			Miyoshi muscular dystrophy 3 +2 more	GLikely pathogenic
Select item 1723449	NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)	FKRP (Q7*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1722385	NC_000002.11:g.(?_71680752)_(71681217_71708012)del	DYSF	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1705242	NM_000023.4(SGCA):c.1A>G (p.Met1Val)	SGCA (M1V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1705156	NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)	ASTN2, TRIM32 (E25*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1698630	NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln)	CAPN3 (L182Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1698626	NM_001077365.2(POMT1):c.699+68T>C	POMT1 (V202A)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GLikely pathogenic
Select item 1698497	NC_000013.10:g.(23869627_23894775)_(23894900_23898506)del	SGCG	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 1696225	NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup	DYSF	Duplication	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1696071	NC_000015.9:g.(?_42651697)_(42704516_?)del	CAPN3	Deletion	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 1402261	NM_001130987.2(DYSF):c.4254del (p.Ile1419fs)	DYSF (I1401fs +7 more)	Deletion (frameshift variant)	Qualitative or quantitative defects of dysferlin +3 more	GPathogenic
Select item 1343631	NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)	POMT1 (V529fs +10 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GPathogenic/Likely pathogenic
Select item 1329035	NM_001077365.2(POMT1):c.314G>A (p.Arg105His)	POMT1 (R105H +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GLikely pathogenic
Select item 1326969	NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter)	DYSF (W1897* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 1325397	NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)	CAPN3 (M248R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
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 1192205	NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs)	DYSF (I1546fs +13 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1180840	NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu)	CAPN3 (R400L +1 more)	Single nucleotide variant (missense variant)	Abnormality of the musculature +2 more	GPathogenic
Select item 1067007	NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)	POMGNT1, TSPAN1 (R462S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GLikely pathogenic
Select item 984127	NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)	DYSF (Q1668* +13 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 984123	NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)	DYSF (E1440* +7 more)	Single nucleotide variant (nonsense)	Miyoshi muscular dystrophy 1 +4 more	GPathogenic/Likely pathogenic
Select item 972625	NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)	ASTN2, TRIM32 (L153fs)	Deletion (frameshift variant +1 more)	Sarcotubular myopathy +3 more	GPathogenic/Likely pathogenic
Select item 872288	NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	POMGNT1, TSPAN1 (R299H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 861179	NM_000023.4(SGCA):c.86dup (p.His29fs)	SGCA (H29fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic
Select item 817606	NM_001077365.2(POMT1):c.579_580del (p.Val195fs)	POMT1 (V165fs +4 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 813980	NM_000070.3(CAPN3):c.1193+6T>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
Select item 666025	NM_001130987.2(DYSF):c.6166del (p.Asp2056fs)	DYSF (D2035fs +13 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic
Select item 655056	NM_000231.3(SGCG):c.385+2T>C	SGCG	Single nucleotide variant (splice donor variant)	not provided +2 more	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 intellectual disability), type B1 +6 more	GConflicting classifications of pathogenicity
Select item 595345	NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)	DYSF (L1775fs +13 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 593922	NM_001077365.2(POMT1):c.699+67G>A	POMT1 (V202I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 558572	NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)	POMGNT1, TSPAN1 (R265P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 556028	NM_024301.5(FKRP):c.1415del (p.Lys472fs)	FKRP (K472fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 555968	NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	DYSF (L1341P +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 555646	NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)	CAPN3 (M283T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 555599	NM_000070.3(CAPN3):c.2115+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GLikely pathogenic
Select item 555554	NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)	FKRP (P462S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 555001	NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)	CAPN3 (S744G +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic
Select item 554420	NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)	SGCA (E137Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554405	NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser)	CAPN3 (N50S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 553852	NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)	CAPN3, LOC130056921 (E467del +1 more)	Microsatellite (inframe_deletion)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 553754	NM_000070.3(CAPN3):c.2050+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic
Select item 553478	NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	TSPAN1, POMGNT1 (G505S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GConflicting classifications of pathogenicity
Select item 552342	NM_017739.4(POMGNT1):c.880-1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant)	Muscle eye brain disease +4 more	GPathogenic/Likely pathogenic
Select item 551805	NM_000232.5(SGCB):c.265G>A (p.Val89Met)	SGCB (V89M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 551236	NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)	DYSF (W1010R +7 more)	Single nucleotide variant (missense variant)	Distal myopathy with anterior tibial onset +3 more	GPathogenic/Likely pathogenic
Select item 550361	NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)	FKRP (E310*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 550017	NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)	DYSF (Y1505C +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +5 more	GConflicting classifications of pathogenicity
Select item 536726	NM_213599.3(ANO5):c.1120-1G>A	ANO5	Single nucleotide variant (splice acceptor variant)	Gnathodiaphyseal dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 528825	NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)	FKRP (I478T)	Single nucleotide variant (missense variant)	Walker-Warburg congenital muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 501440	NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	CAPN3, LOC130056921 (R461C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 500922	NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)	DYSF (C1361R +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 499193	NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	SGCB (R91C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 498954	NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)	DYSF (R1040W +7 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more	GPathogenic/Likely pathogenic
Select item 498267	NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	CAPN3 (R541W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic/Likely pathogenic
Select item 496981	NM_001130987.2(DYSF):c.5785-824C>T	DYSF, LOC110121121	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic
Select item 496915	NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)	CAPN3 (G214S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 489098	NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)	DYSF (W1968* +13 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dysferlin +2 more	GPathogenic/Likely pathogenic
Select item 488834	NM_001130987.2(DYSF):c.1149+5G>A	DYSF	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 468639	NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	CAPN3 (G367S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GConflicting classifications of pathogenicity
Select item 466601	NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)	LOC129992585, SGCB (A8fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 449378	NM_013382.7(POMT2):c.924-2A>C	POMT2	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GPathogenic
Select item 430022	NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)	CAPN3 (R357Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 424827	NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]			Autosomal recessive limb-girdle muscular dystrophy type 2N	GLikely pathogenic
Select item 424774	NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]			Miyoshi muscular dystrophy 1 +2 more	GLikely pathogenic
Select item 424764	NM_213599.2(ANO5):c.[155A>G];[191dupA]			Miyoshi muscular dystrophy 3 +1 more	GLikely pathogenic
Select item 375391	NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)	TRAPPC11 (R48*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more	GPathogenic
Select item 315905	NM_000070.3(CAPN3):c.*534T>C	CAPN3	Single nucleotide variant (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +3 more	GUncertain significance
Select item 289794	NM_000023.4(SGCA):c.614C>A (p.Pro205His)	SGCA (P205H)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289644	NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	CAPN3 (R489Q +1 more)	Single nucleotide variant (missense variant)	CAPN3-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 289372	NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	CAPN3 (S606L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 288426	NM_000070.3(CAPN3):c.1355-1G>C	CAPN3, LOC130056921	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 286151	NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)	DYSF (R1768W +13 more)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of dysferlin +4 more	GPathogenic/Likely pathogenic
Select item 285669	NM_213599.3(ANO5):c.2004del (p.Leu669fs)	ANO5 (L668fs +1 more)	Deletion (frameshift variant)	Gnathodiaphyseal dysplasia +4 more	GPathogenic
Select item 284708	NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	SGCA (R98C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more	GPathogenic/Likely pathogenic
Select item 284515	NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)	CAPN3 (G445R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +2 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2