ClinVar for MedGen (Select 358391) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373768	NM_000070.3(CAPN3):c.377T>C (p.Leu126Pro)	CAPN3 (L126P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3362912	NM_000070.3(CAPN3):c.1536G>C (p.Glu512Asp)	CAPN3 (E464D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3362872	NM_000070.3(CAPN3):c.1247del (p.Leu416fs)	CAPN3 (L368fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3362318	NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)	CAPN3 (Y233* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3340140	NM_000070.3(CAPN3):c.137TCA[1] (p.Ile47del)	CAPN3 (I47del)	Microsatellite	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3243805	NC_000015.9:g.(?_42693819)_(42695220_?)del	CAPN3	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3243804	NC_000015.9:g.(?_42686437)_(42688200_?)del	CAPN3	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3242017	NM_000070.3(CAPN3):c.358G>A (p.Asp120Asn)	CAPN3 (D120N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3064794	NM_000070.3(CAPN3):c.1240T>G (p.Cys414Gly)	CAPN3 (C327G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3023862	NM_000070.3(CAPN3):c.801+18G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3022658	NM_000070.3(CAPN3):c.1518C>T (p.Ile506=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3022087	NM_000070.3(CAPN3):c.1800+16G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3020857	NM_000070.3(CAPN3):c.126C>T (p.Ile42=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3020436	NM_000070.3(CAPN3):c.1783-7T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3018394	NM_000070.3(CAPN3):c.1354+20G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3015145	NM_000070.3(CAPN3):c.2381-14G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3013126	NM_000070.3(CAPN3):c.801+20C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3012962	NM_000070.3(CAPN3):c.632+12T>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3011601	NM_000070.3(CAPN3):c.107G>C (p.Gly36Ala)	CAPN3 (G36A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3011491	NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)	CAPN3, LOC130056921 (Q372* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3010867	NM_000070.3(CAPN3):c.1425G>A (p.Glu475=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3009811	NM_000070.3(CAPN3):c.1914+9G>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3009542	NM_000070.3(CAPN3):c.1014C>T (p.Val338=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3007680	NM_000070.3(CAPN3):c.801+17G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3006914	NM_000070.3(CAPN3):c.802-12A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3006232	NM_000070.3(CAPN3):c.945+14C>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3005119	NM_000070.3(CAPN3):c.2381-4A>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3001600	NM_000070.3(CAPN3):c.1044T>A (p.Gly348=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3000537	NM_000070.3(CAPN3):c.633-14A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2999746	NM_000070.3(CAPN3):c.802-9G>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2999476	NM_000070.3(CAPN3):c.1220A>G (p.His407Arg)	CAPN3 (H407R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2999427	NM_000070.3(CAPN3):c.315T>C (p.Ile105=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2999065	NM_000070.3(CAPN3):c.1992+19A>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2998077	NM_000070.3(CAPN3):c.946-20C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2996643	NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)	CAPN3 (G135R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2996039	NM_000070.3(CAPN3):c.945+11C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2994105	NM_000070.3(CAPN3):c.1014C>G (p.Val338=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2989803	NM_000070.3(CAPN3):c.498+11G>A	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2985205	NM_000070.3(CAPN3):c.2116-11C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2983378	NM_000070.3(CAPN3):c.729T>C (p.Asp243=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2983174	NM_000070.3(CAPN3):c.1116-17C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2983101	NM_000070.3(CAPN3):c.444C>A (p.Val148=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2982778	NM_000070.3(CAPN3):c.2051-20_2051-17del	CAPN3	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2982323	NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)	CAPN3 (Q568* +3 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2982159	NM_000070.3(CAPN3):c.1746-19_1746-18del	CAPN3	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2979908	NM_000070.3(CAPN3):c.802-15T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2979239	NM_000070.3(CAPN3):c.1419C>T (p.Asp473=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2978348	NM_000070.3(CAPN3):c.801+10G>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2977111	NM_000070.3(CAPN3):c.1783-15C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2975858	NM_000070.3(CAPN3):c.1783-15C>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2974657	NM_000070.3(CAPN3):c.2226_2240del (p.Ile742_Glu746del)	CAPN3	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 2971363	NM_000070.3(CAPN3):c.2050+12A>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2969957	NM_000070.3(CAPN3):c.2381-18C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2969520	NM_000070.3(CAPN3):c.2184+7_2184+9del	CAPN3	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2968105	NM_000070.3(CAPN3):c.2380+14G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2964273	NM_000070.3(CAPN3):c.1745+13C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2962444	NM_000070.3(CAPN3):c.468C>G (p.Ile156Met)	CAPN3, LOC126862115 (I156M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2959121	NM_000070.3(CAPN3):c.1014C>A (p.Val338=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2959117	NM_000070.3(CAPN3):c.1354+13C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2920461	NM_000070.3(CAPN3):c.1783-14C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2920154	NM_000070.3(CAPN3):c.2381-17_2381-15dup	CAPN3	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2919990	NM_000070.3(CAPN3):c.1354+18T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2918796	NM_000070.3(CAPN3):c.945+13C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2917911	NM_000070.3(CAPN3):c.1992+18C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2917604	NM_000070.3(CAPN3):c.498+16T>A	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2917540	NM_000070.3(CAPN3):c.2440-15T>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2917131	NM_000070.3(CAPN3):c.2115+13C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2916879	NM_000070.3(CAPN3):c.2115+15G>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2915910	NM_000070.3(CAPN3):c.1368C>G (p.Thr456=)	CAPN3, LOC130056921	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2915682	NM_000070.3(CAPN3):c.2184+16G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2915581	NM_000070.3(CAPN3):c.2263+11G>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2914943	NM_000070.3(CAPN3):c.1992+18C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2914679	NM_000070.3(CAPN3):c.498+11G>T	CAPN3, LOC126862115	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2914136	NM_000070.3(CAPN3):c.1745+9T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2913683	NM_000070.3(CAPN3):c.1029+6C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2913557	NM_000070.3(CAPN3):c.2051-13T>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2913353	NM_000070.3(CAPN3):c.956C>G (p.Pro319Arg)	CAPN3 (P271R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 2912916	NM_000070.3(CAPN3):c.1341C>T (p.Cys447=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2912585	NM_000070.3(CAPN3):c.1992+11C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2912556	NM_000070.3(CAPN3):c.1914+11A>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2911949	NM_000070.3(CAPN3):c.1524+11C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2911841	NM_000070.3(CAPN3):c.1537-14T>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2911494	NM_000070.3(CAPN3):c.2380+12A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2911341	NM_000070.3(CAPN3):c.2380+11del	CAPN3	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2911289	NM_000070.3(CAPN3):c.2050+19A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2911274	NM_000070.3(CAPN3):c.2051-8C>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2910369	NM_000070.3(CAPN3):c.1536+3A>G	CAPN3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 2910082	NM_000070.3(CAPN3):c.1115+20G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2909887	NM_000070.3(CAPN3):c.564A>G (p.Gln188=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2909592	NM_000070.3(CAPN3):c.334A>G (p.Ile112Val)	CAPN3 (I112V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 2908811	NM_000070.3(CAPN3):c.2050+16C>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2907182	NM_000070.3(CAPN3):c.633-14A>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2906657	NM_000070.3(CAPN3):c.1737C>T (p.Asn579=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2906114	NM_000070.3(CAPN3):c.2050+16del	CAPN3	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2905704	NM_000070.3(CAPN3):c.2263+13A>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2904693	NM_000070.3(CAPN3):c.1993-19C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2904590	NM_000070.3(CAPN3):c.2051-17C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2904423	NM_000070.3(CAPN3):c.1115+14C>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2903763	NM_000070.3(CAPN3):c.1537-12C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 2902390	NM_000070.3(CAPN3):c.345A>G (p.Gly115=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign

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