ClinVar for MedGen (Select 863797) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246934	NC_000003.11:g.(?_69158246)_(69171537_?)dup	LMOD3	Duplication	Nemaline myopathy 10	GUncertain significance
Select item 3012412	NM_198271.5(LMOD3):c.637dup (p.Ile213fs)	LMOD3 (I213fs)	Duplication (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 3009840	NM_198271.5(LMOD3):c.870C>A (p.Ala290=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2908683	NM_198271.5(LMOD3):c.468C>T (p.Asp156=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2898730	NM_198271.5(LMOD3):c.861C>T (p.Phe287=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2898508	NM_198271.5(LMOD3):c.780del (p.Asn261fs)	LMOD3 (N261fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2892115	NM_198271.5(LMOD3):c.294+7A>G	LMOD3, LOC126806710	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 2889177	NM_198271.5(LMOD3):c.1232A>G (p.Lys411Arg)	LMOD3 (K411R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2868034	NM_198271.5(LMOD3):c.1641C>A (p.Val547=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2853766	NM_198271.5(LMOD3):c.78C>T (p.Asn26=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2807701	NM_198271.5(LMOD3):c.1656+9A>G	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 2805996	NM_198271.5(LMOD3):c.1533C>T (p.Leu511=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2805350	NM_198271.5(LMOD3):c.295-14A>T	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 2801955	NM_198271.5(LMOD3):c.1011T>C (p.Asn337=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2794553	NM_198271.5(LMOD3):c.534G>A (p.Lys178=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2748261	NM_198271.5(LMOD3):c.1230C>G (p.Leu410=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2741896	NM_198271.5(LMOD3):c.403A>C (p.Lys135Gln)	LMOD3 (K135Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2733517	NM_198271.5(LMOD3):c.1017G>A (p.Thr339=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2727650	NM_198271.5(LMOD3):c.1581C>T (p.Pro527=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2719456	NM_198271.5(LMOD3):c.1230C>T (p.Leu410=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2716740	NM_198271.5(LMOD3):c.636A>G (p.Lys212=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2712484	NM_198271.5(LMOD3):c.131_132del (p.Pro44fs)	LMOD3, LOC126806710 (P44fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2695772	NM_198271.5(LMOD3):c.63T>C (p.Asp21=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2693010	NM_198271.5(LMOD3):c.265C>A (p.Arg89=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2501771	NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)	LMOD3 (L315fs)	Microsatellite (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2441198	NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter)	LMOD3 (S473*)	Single nucleotide variant (nonsense)	Nemaline myopathy 10	GLikely pathogenic
Select item 2433491	NM_198271.5(LMOD3):c.214G>A (p.Val72Ile)	LMOD3, LOC126806710 (V72I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2433490	NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys)	LMOD3 (N456K)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2421093	NM_198271.5(LMOD3):c.456TGA[5] (p.Asp157_Glu158insAsp)	LMOD3	Microsatellite (inframe_insertion)	Nemaline myopathy 10	GUncertain significance
Select item 2201328	NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn)	LMOD3 (D541N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2195594	NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser)	LMOD3 (N510S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2194135	NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn)	LMOD3, LOC126806710 (D15N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2189577	NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile)	LMOD3, LOC126806710 (R6I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2188100	NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu)	LMOD3 (F446L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GUncertain significance
Select item 2176069	NM_198271.5(LMOD3):c.278_288del (p.Thr93fs)	LMOD3, LOC126806710 (T93fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2172668	NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu)	LMOD3, LOC126806710 (P91L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2169511	NM_198271.5(LMOD3):c.882dup (p.Asp295fs)	LMOD3 (D295fs)	Duplication (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 2154645	NM_198271.5(LMOD3):c.1140G>A (p.Pro380=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2149678	NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter)	LMOD3 (Q444*)	Single nucleotide variant (nonsense)	Nemaline myopathy 10	GPathogenic
Select item 2148132	NM_198271.5(LMOD3):c.990C>G (p.Ile330Met)	LMOD3 (I330M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2148039	NM_198271.5(LMOD3):c.48G>A (p.Glu16=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2139400	NM_198271.5(LMOD3):c.1566G>A (p.Pro522=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2119165	NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter)	LMOD3, LOC126806710 (E38*)	Single nucleotide variant (nonsense)	Nemaline myopathy 10	GPathogenic
Select item 2116371	NM_198271.5(LMOD3):c.1355C>G (p.Pro452Arg)	LMOD3 (P452R)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2108549	NM_198271.5(LMOD3):c.980T>C (p.Ile327Thr)	LMOD3 (I327T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2105891	NM_198271.5(LMOD3):c.990C>A (p.Ile330=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2104926	NM_198271.5(LMOD3):c.312G>A (p.Glu104=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2099267	NM_198271.5(LMOD3):c.563G>A (p.Cys188Tyr)	LMOD3 (C188Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2094677	NM_198271.5(LMOD3):c.1656+12G>T	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GUncertain significance
Select item 2093747	NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val)	LMOD3 (D536V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2082808	NM_198271.5(LMOD3):c.1318G>A (p.Asp440Asn)	LMOD3 (D440N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2080369	NM_198271.5(LMOD3):c.430G>A (p.Asp144Asn)	LMOD3 (D144N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2079952	NM_198271.5(LMOD3):c.507G>A (p.Thr169=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2078707	NM_198271.5(LMOD3):c.370A>G (p.Asn124Asp)	LMOD3 (N124D)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2076082	NM_198271.5(LMOD3):c.116T>C (p.Met39Thr)	LMOD3, LOC126806710 (M39T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2066866	NM_198271.5(LMOD3):c.547A>G (p.Asn183Asp)	LMOD3 (N183D)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2064609	NM_198271.5(LMOD3):c.1680G>T (p.Ala560=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2057448	NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu)	LMOD3, LOC126806710 (P46L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2056430	NM_198271.5(LMOD3):c.1252G>A (p.Ala418Thr)	LMOD3 (A418T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2051971	NM_198271.5(LMOD3):c.1052T>C (p.Met351Thr)	LMOD3 (M351T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2046292	NM_198271.5(LMOD3):c.96G>T (p.Leu32=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2039522	NM_198271.5(LMOD3):c.1381C>T (p.Pro461Ser)	LMOD3 (P461S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2037019	NM_198271.5(LMOD3):c.295-20C>G	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 2028314	NM_198271.5(LMOD3):c.1296G>A (p.Glu432=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2015616	NM_198271.5(LMOD3):c.1088T>G (p.Leu363Arg)	LMOD3 (L363R)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2015299	NM_198271.5(LMOD3):c.226T>C (p.Tyr76His)	LMOD3, LOC126806710 (Y76H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2013012	NM_198271.5(LMOD3):c.1158C>T (p.Val386=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 2010520	NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg)	LMOD3 (P556R)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1996953	NM_198271.5(LMOD3):c.1056G>A (p.Leu352=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1995152	NM_198271.5(LMOD3):c.872A>C (p.Asn291Thr)	LMOD3 (N291T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1989060	NM_198271.5(LMOD3):c.1268G>C (p.Gly423Ala)	LMOD3 (G423A)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1981994	NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp)	LMOD3 (R498W)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1977642	NM_198271.5(LMOD3):c.474A>T (p.Glu158Asp)	LMOD3 (E158D)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1974665	NM_198271.5(LMOD3):c.1551G>T (p.Thr517=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1967778	NM_198271.5(LMOD3):c.641C>T (p.Ser214Leu)	LMOD3 (S214L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1959624	NM_198271.5(LMOD3):c.465T>C (p.Asp155=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1947435	NM_198271.5(LMOD3):c.294+20C>T	LMOD3, LOC126806710	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 1923276	NM_198271.5(LMOD3):c.1312A>G (p.Lys438Glu)	LMOD3 (K438E)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1920059	NM_198271.5(LMOD3):c.633A>C (p.Lys211Asn)	LMOD3 (K211N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1917538	NM_198271.5(LMOD3):c.307G>A (p.Glu103Lys)	LMOD3 (E103K)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1903567	NM_198271.5(LMOD3):c.985G>A (p.Ala329Thr)	LMOD3 (A329T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1717611	NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly)	LMOD3, LOC126806710 (D9G)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1672937	NM_198271.5(LMOD3):c.1449C>T (p.Asp483=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1659089	NM_198271.5(LMOD3):c.276C>T (p.Val92=)	LMOD3, LOC126806710	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1652982	NM_198271.5(LMOD3):c.417T>C (p.Asn139=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1649804	NM_198271.5(LMOD3):c.1353A>C (p.Pro451=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1640578	NM_198271.5(LMOD3):c.1527C>T (p.Thr509=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1633863	NM_198271.5(LMOD3):c.1680G>A (p.Ala560=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1622778	NM_198271.5(LMOD3):c.1095G>A (p.Lys365=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1620985	NM_198271.5(LMOD3):c.294+17G>A	LMOD3, LOC126806710	Single nucleotide variant (intron variant)	Nemaline myopathy 10 +1 more	GLikely benign
Select item 1585834	NM_198271.5(LMOD3):c.522A>G (p.Glu174=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1573227	NM_198271.5(LMOD3):c.459T>C (p.Asp153=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1569757	NM_198271.5(LMOD3):c.1657-14T>C	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GBenign
Select item 1567950	NM_198271.5(LMOD3):c.1246C>T (p.Leu416=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1563248	NM_198271.5(LMOD3):c.294+15G>A	LOC126806710, LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 1544446	NM_198271.5(LMOD3):c.1338C>T (p.Phe446=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1532651	NM_198271.5(LMOD3):c.1416A>T (p.Pro472=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1528966	NM_198271.5(LMOD3):c.295-4G>A	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 1525358	NM_198271.5(LMOD3):c.43G>C (p.Asp15His)	LMOD3, LOC126806710 (D15H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1522298	NM_198271.5(LMOD3):c.832A>G (p.Met278Val)	LMOD3 (M278V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance

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