ClinVar for MedGen (Select 151940) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442391	NM_017739.4(POMGNT1):c.1153-6T>C	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Limb-girdle muscular dystrophy	GUncertain significance
Select item 2430195	NM_024301.5(FKRP):c.605T>C (p.Leu202Pro)	FKRP (L202P)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GUncertain significance
Select item 1803007	NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)	HMGCR (G769D +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GPathogenic
Select item 1332905	NM_015915.5(ATL1):c.1061C>T (p.Ala354Val)	ATL1 (A354V)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy	GUncertain significance
Select item 1180773	NM_000070.3(CAPN3):c.661G>T (p.Gly221Cys)	CAPN3 (G221C)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1033986	NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)	TRAPPC11 (F173fs)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type R18 +1 more	GPathogenic/Likely pathogenic
Select item 1001331	NM_000070.3(CAPN3):c.847A>G (p.Met283Val)	CAPN3 (M283V)	Single nucleotide variant (missense variant +1 more)	Limb-girdle muscular dystrophy +1 more	GUncertain significance
Select item 977163	NM_213599.3(ANO5):c.395A>T (p.Lys132Met)	ANO5 (K131M +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 626314	NM_001199563.2(BVES):c.262C>T (p.Arg88Ter)	BVES (R88*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 561990	NM_001267550.2(TTN):c.71731A>G (p.Lys23911Glu)	TTN, TTN-AS1 (K22270E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498076	NM_012210.4(TRIM32):c.691del (p.Ala231fs)	ASTN2, TRIM32 (A231fs)	Deletion (intron variant +1 more)	Limb-girdle muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 474342	NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)	TRAPPC11 (R398*)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +12 more	GConflicting classifications of pathogenicity
Select item 282173	NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	CAPN3 (E435K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic/Likely pathogenic
Select item 224674	NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]	FKRP (L276I +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2I	GLikely pathogenic
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	TTN-related myopathy +14 more	GConflicting classifications of pathogenicity
Select item 195705	NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	ANO5 (H841D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +5 more	GConflicting classifications of pathogenicity
Select item 47008	NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)	TTN, TTN-AS1 (V15750I +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +9 more	GConflicting classifications of pathogenicity
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Dominant +13 more	GBenign/Likely benign
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +20 more	GPathogenic/Likely pathogenic

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Items: 21