ClinVar for MedGen (Select 893656) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3057633	NM_000070.3(CAPN3):c.1560G>A (p.Leu520=)	CAPN3	Single nucleotide variant (synonymous variant)	CAPN3-related disorder	GLikely benign
Select item 2056530	NM_000070.3(CAPN3):c.2440-10CTT[3]	CAPN3	Microsatellite (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GBenign
Select item 771630	NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A	GLikely benign
Select item 663747	NM_000070.3(CAPN3):c.946-2A>G	CAPN3	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic
Select item 662490	NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)	CAPN3 (S395P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 638430	NM_000070.3(CAPN3):c.490C>T (p.His164Tyr)	CAPN3, LOC126862115 (H164Y)	Single nucleotide variant (missense variant)	CAPN3-related disorder	GUncertain significance
Select item 595220	NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 500391	NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 498267	NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	CAPN3 (R541W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 468648	NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	CAPN3 (D707G +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 468641	NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 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)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more	GPathogenic/Likely pathogenic
Select item 289082	NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)	CAPN3 (N95fs +4 more)	Duplication (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 286048	NM_000070.3(CAPN3):c.183C>T (p.Phe61=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285651	NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr)	CAPN3 (N195T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 284813	NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys)	CAPN3 (R197C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 283107	NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	CAPN3 (I113T)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GConflicting classifications of pathogenicity
Select item 282873	NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)	CAPN3 (D419E +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 282677	NM_000070.3(CAPN3):c.1621C>G (p.Arg541Gly)	CAPN3 (R541G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 282512	NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	CAPN3 (I502T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 281360	NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 281357	NM_000070.3(CAPN3):c.930T>C (p.Asp310=)	CAPN3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 281088	NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)	CAPN3	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GConflicting classifications of pathogenicity
Select item 281081	NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	CAPN3 (D753N +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 281062	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	CAPN3 (G393fs +1 more)	Deletion (frameshift variant)	Elbow flexion contracture +7 more	GPathogenic
Select item 197103	NM_000070.3(CAPN3):c.525C>T (p.Asp175=)	CAPN3	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 166791	NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)	CAPN3 (G567W +2 more)	Single nucleotide variant (missense variant)	CAPN3-related disorder +4 more	GPathogenic
Select item 166790	NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	CAPN3 (R490W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 166786	NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	CAPN3	Deletion (inframe_deletion)	not provided +2 more	GPathogenic
Select item 128568	NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)	CAPN3	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 92410	NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser)	CAPN3 (G740S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92405	NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)	CAPN3 (S479G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	See cases +24 more	GPathogenic

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Items: 34