ClinVar for Gene (Select 825) - 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 3368552	NM_000070.3(CAPN3):c.683T>C (p.Met228Thr)	CAPN3 (M228T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366674	NM_000070.3(CAPN3):c.505C>G (p.Arg169Gly)	CAPN3 (R169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365679	NM_000070.3(CAPN3):c.1411C>T (p.Pro471Ser)	CAPN3 (P423S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3351370	NM_000070.3(CAPN3):c.731C>T (p.Ala244Val)	CAPN3 (A244V)	Single nucleotide variant (missense variant)	CAPN3-related disorder	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 3339739	NM_000070.3(CAPN3):c.238T>C (p.Phe80Leu)	CAPN3 (F80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339733	NM_000070.3(CAPN3):c.662G>T (p.Gly221Val)	CAPN3 (G221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339504	NM_000070.3(CAPN3):c.955C>A (p.Pro319Thr)	CAPN3 (P271T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338947	NM_000070.3(CAPN3):c.2345T>C (p.Phe782Ser)	CAPN3 (F117S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338427	GRCh37/hg19 15q15.1(chr15:42681074-42684971)x1	CAPN3	Copy number loss	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3335996	NM_000070.3(CAPN3):c.532A>G (p.Ile178Val)	CAPN3 (I178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335995	NM_000070.3(CAPN3):c.1064G>T (p.Arg355Leu)	CAPN3 (R307L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263220	NM_000070.3(CAPN3):c.2425C>T (p.Leu809Phe)	CAPN3 (L297F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263219	NM_000070.3(CAPN3):c.1396G>A (p.Glu466Lys)	CAPN3, LOC130056921 (E418K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263218	NM_000070.3(CAPN3):c.2141T>C (p.Leu714Pro)	CAPN3 (L708P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251030	NM_000070.3(CAPN3):c.499-28T>G	CAPN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3242028	NM_000070.3(CAPN3):c.430C>T (p.Leu144Phe)	CAPN3, LOC126862115 (L144F +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GUncertain significance
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 3241006	NM_000070.3(CAPN3):c.233del (p.Pro78fs)	CAPN3 (P78fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3241004	NM_000070.3(CAPN3):c.633G>T (p.Lys211Asn)	CAPN3 (K124N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3241003	NM_000070.3(CAPN3):c.1030-1G>T	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3241002	NM_000070.3(CAPN3):c.2184+2T>G	CAPN3	Single nucleotide variant (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3241000	NM_000070.3(CAPN3):c.249_253del (p.Glu84fs)	CAPN3 (E84fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GPathogenic
Select item 3240999	NM_000070.3(CAPN3):c.225T>A (p.Tyr75Ter)	CAPN3 (Y75*)	Single nucleotide variant (nonsense)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240998	NM_000070.3(CAPN3):c.2456_*4del (p.Met819_Ter822delinsXaa)	CAPN3	Deletion (stop lost)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240997	NM_000070.3(CAPN3):c.1355-2A>G	CAPN3, LOC130056921	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240995	NM_000070.3(CAPN3):c.633-2A>C	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240994	NM_000070.3(CAPN3):c.1954C>T (p.Gln652Ter)	CAPN3 (Q140* +3 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240993	NM_000070.3(CAPN3):c.2381-2A>C	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240992	NM_000070.3(CAPN3):c.1536G>A (p.Glu512=)	CAPN3	Single nucleotide variant (synonymous variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240991	NM_000070.3(CAPN3):c.2308dup (p.Tyr770fs)	CAPN3 (Y105fs +4 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240990	NM_000070.3(CAPN3):c.883_886dup (p.Asn296delinsArgTer)	CAPN3	Duplication (nonsense +2 more)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3240988	NM_000070.3(CAPN3):c.1193+1del	CAPN3	Deletion (splice donor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4	GLikely pathogenic
Select item 3239533	NM_000070.3(CAPN3):c.2092dup (p.Arg698fs)	CAPN3 (R186fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3233858	NM_000070.3(CAPN3):c.1939G>A (p.Glu647Lys)	CAPN3 (E135K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137161	NM_000070.3(CAPN3):c.2090G>A (p.Cys697Tyr)	CAPN3 (C32Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3137160	NM_000070.3(CAPN3):c.1846G>C (p.Gly616Arg)	CAPN3 (G104R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 3063394	GRCh37/hg19 15q15.1(chr15:42631673-42700221)x1	CAPN3, GANC	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3057633	NM_000070.3(CAPN3):c.1560G>A (p.Leu520=)	CAPN3	Single nucleotide variant (synonymous variant)	CAPN3-related disorder	GLikely benign
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

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