ClinVar for MedGen (Select 358391) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896796	NM_000070.3(CAPN3):c.1390C>T (p.Leu464Phe)	CAPN3, LOC130056921 (L416F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 3896795	NM_000070.3(CAPN3):c.1353A>G (p.Pro451=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3896794	NM_000070.3(CAPN3):c.1347C>A (p.Asn449Lys)	CAPN3 (N401K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3896793	NM_000070.3(CAPN3):c.568del (p.Val190fs)	CAPN3 (V190fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3896792	NM_000070.3(CAPN3):c.499-1G>C	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3896791	NM_000070.3(CAPN3):c.495C>A (p.Phe165Leu)	CAPN3, LOC126862115 (F165L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3775893	NM_000070.3(CAPN3):c.332T>G (p.Phe111Cys)	CAPN3 (F111C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3765510	NM_000070.3(CAPN3):c.1355-9_1745+11del	CAPN3, LOC130056921	Deletion (splice acceptor variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3731480	NM_000070.3(CAPN3):c.632A>G (p.Lys211Arg)	CAPN3 (K211R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3731383	NM_000070.3(CAPN3):c.1743dup (p.Glu582Ter)	CAPN3 (E534* +2 more)	Duplication (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3729695	NM_000070.3(CAPN3):c.2051-3C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3729678	NM_000070.3(CAPN3):c.633-14_633-11del	CAPN3	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3728719	NM_000070.3(CAPN3):c.435T>C (p.Leu145=)	CAPN3, LOC126862115	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3728035	NM_000070.3(CAPN3):c.1669G>A (p.Val557Met)	CAPN3 (V45M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3724779	NM_000070.3(CAPN3):c.2260del (p.Ala754fs)	CAPN3 (A662fs +4 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3723516	NM_000070.3(CAPN3):c.227del (p.Val76fs)	CAPN3 (V76fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3721675	NM_000070.3(CAPN3):c.2263G>A (p.Gly755Arg)	CAPN3 (G243R +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3721674	NM_000070.3(CAPN3):c.1910del (p.Pro637fs)	CAPN3 (P125fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3719679	NM_000070.3(CAPN3):c.1201T>C (p.Tyr401His)	CAPN3 (Y353H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3717744	NM_000070.3(CAPN3):c.597G>T (p.Glu199Asp)	CAPN3 (E199D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3717567	NM_000070.3(CAPN3):c.1993-5_1993-3del	CAPN3	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3716110	NM_000070.3(CAPN3):c.1801-16T>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3714902	NM_000070.3(CAPN3):c.57C>T (p.Ser19=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3714138	NM_000070.3(CAPN3):c.1993G>T (p.Asp665Tyr)	CAPN3 (D573Y +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3712734	NM_000070.3(CAPN3):c.1996A>C (p.Met666Leu)	CAPN3 (M1L +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3711199	NM_000070.3(CAPN3):c.2150T>A (p.Phe717Tyr)	CAPN3 (F711Y +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3708593	NM_000070.3(CAPN3):c.920G>A (p.Arg307Lys)	CAPN3 (R307K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3706186	NM_000070.3(CAPN3):c.1116-14C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3705955	NM_000070.3(CAPN3):c.814A>T (p.Met272Leu)	CAPN3 (M272L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3705376	NM_000070.3(CAPN3):c.136A>G (p.Ile46Val)	CAPN3 (I46V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3697044	NM_000070.3(CAPN3):c.806G>C (p.Gly269Ala)	CAPN3 (G269A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3691422	NM_000070.3(CAPN3):c.1746-8C>G	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3690939	NM_000070.3(CAPN3):c.2051-6C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3686653	NM_000070.3(CAPN3):c.1030-14T>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3682207	NM_000070.3(CAPN3):c.931G>T (p.Glu311Ter)	CAPN3 (E311*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3680984	NM_000070.3(CAPN3):c.442G>T (p.Val148Phe)	CAPN3, LOC126862115 (V148F)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3678358	NM_000070.3(CAPN3):c.1193+1G>T	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely pathogenic
Select item 3677811	NM_000070.3(CAPN3):c.1577T>C (p.Leu526Pro)	CAPN3 (L478P +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3676849	NM_000070.3(CAPN3):c.2050+20T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3673666	NM_000070.3(CAPN3):c.1773T>C (p.Asp591=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3671327	NM_000070.3(CAPN3):c.972A>G (p.Thr324=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3659410	NM_000070.3(CAPN3):c.1896G>T (p.Lys632Asn)	CAPN3 (K626N +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3654894	NM_000070.3(CAPN3):c.2431G>C (p.Val811Leu)	CAPN3 (V299L +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3651629	NM_000070.3(CAPN3):c.945G>A (p.Arg315=)	CAPN3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3646249	NM_000070.3(CAPN3):c.1951C>T (p.Gln651Ter)	CAPN3 (Q645* +3 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3645188	NM_000070.3(CAPN3):c.379+18G>A	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3643993	NM_000070.3(CAPN3):c.1658A>G (p.Glu553Gly)	CAPN3 (E505G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3642742	NM_000070.3(CAPN3):c.1645_1649del (p.Leu549fs)	CAPN3 (L549fs +2 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3641184	NM_000070.3(CAPN3):c.1801-10C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3640527	NM_000070.3(CAPN3):c.972_973dup (p.Arg325fs)	CAPN3 (R277fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
Select item 3638874	NM_000070.3(CAPN3):c.2169G>A (p.Lys723=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3638461	NM_000070.3(CAPN3):c.2129G>A (p.Gly710Glu)	CAPN3 (G710E +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3636593	NM_000070.3(CAPN3):c.881T>G (p.Met294Arg)	CAPN3 (M294R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3632037	NM_000070.3(CAPN3):c.2116-5T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3627285	NM_000070.3(CAPN3):c.1185A>G (p.Gly395=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3625266	NM_000070.3(CAPN3):c.1783-12T>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3620954	NM_000070.3(CAPN3):c.1844T>C (p.Leu615Pro)	CAPN3 (L103P +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3619214	NM_000070.3(CAPN3):c.2381-16G>C	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3607735	NM_000070.3(CAPN3):c.1933G>A (p.Asp645Asn)	CAPN3 (D133N +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3606999	NM_000070.3(CAPN3):c.1018G>C (p.Gly340Arg)	CAPN3 (G292R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3605854	NM_000070.3(CAPN3):c.1536+10C>T	CAPN3	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 3605308	NM_000070.3(CAPN3):c.1259C>T (p.Ala420Val)	CAPN3 (A372V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3604434	NM_000070.3(CAPN3):c.14T>C (p.Ile5Thr)	CAPN3 (I5T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3604169	NM_000070.3(CAPN3):c.1390C>G (p.Leu464Val)	CAPN3, LOC130056921 (L416V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GUncertain significance
Select item 3577116	NM_000070.3(CAPN3):c.2442G>A (p.Trp814Ter)	CAPN3 (W814* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577115	NM_000070.3(CAPN3):c.2441G>A (p.Trp814Ter)	CAPN3 (W814* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577113	NM_000070.3(CAPN3):c.2116-1G>A	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577112	NM_000070.3(CAPN3):c.2051-2A>G	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic
Select item 3577111	NM_000070.3(CAPN3):c.1993-2A>G	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577110	NM_000070.3(CAPN3):c.1992+2T>G	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic
Select item 3577109	NM_000070.3(CAPN3):c.1915-2A>C	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577108	NM_000070.3(CAPN3):c.1633C>T (p.Gln545Ter)	CAPN3 (Q33* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577107	NM_000070.3(CAPN3):c.1301dup (p.Asn434fs)	CAPN3 (N434fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic
Select item 3577105	NM_000070.3(CAPN3):c.949dup (p.Ile317fs)	CAPN3 (I317fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577104	NM_000070.3(CAPN3):c.633-2A>G	CAPN3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3577102	NM_000070.3(CAPN3):c.250G>T (p.Glu84Ter)	CAPN3 (E84*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GLikely pathogenic
Select item 3484830	NM_000070.3(CAPN3):c.122G>T (p.Gly41Val)	CAPN3 (G41V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 3383177	NM_000070.3(CAPN3):c.1745+1G>A	CAPN3	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GPathogenic
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	GConflicting classifications of pathogenicity
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	GConflicting classifications of pathogenicity
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	GLikely pathogenic
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 +1 more	GConflicting classifications of pathogenicity
Select item 3240990	NM_000070.3(CAPN3):c.883_886dup (p.Asn296delinsArgTer)	CAPN3	Duplication (nonsense +2 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GLikely pathogenic
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

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