C4748295[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315889	NM_000070.3(CAPN3):c.-131G>T	CAPN3	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 285181	NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala)	CAPN3 (T3A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 468640	NM_000070.3(CAPN3):c.10G>A (p.Val4Ile)	CAPN3 (V4I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GUncertain significance
Select item 567245	NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln)	CAPN3 (R18Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 217148	NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	CAPN3 (A45T)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 551283	NM_000070.3(CAPN3):c.259C>G (p.Leu87Val)	CAPN3 (L87V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 284578	NM_000070.3(CAPN3):c.292G>A (p.Val98Ile)	CAPN3 (V98I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 195011	NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)	CAPN3 (E107K)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GBenign/Likely benign
Select item 648827	NM_000070.3(CAPN3):c.349A>C (p.Asn117His)	CAPN3 (N117H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 242415	NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)	CAPN3, LOC126862115 (R147*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic
Select item 1319979	NM_000070.3(CAPN3):c.452A>G (p.His151Arg)	CAPN3, LOC126862115 (H151R)	Single nucleotide variant (missense variant)	Familial idiopathic inflammatory myopathy +2 more	GUncertain significance
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Elevated circulating creatine kinase concentration +24 more	GPathogenic
Select item 128572	NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)	CAPN3 (T184M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 284813	NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys)	CAPN3 (R197C)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GUncertain significance
Select item 283137	NM_000070.3(CAPN3):c.632+3A>G	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 556854	NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)	CAPN3 (G222R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GPathogenic/Likely pathogenic
Select item 983852	NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)	CAPN3 (Y249*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GPathogenic/Likely pathogenic
Select item 280037	NM_000070.3(CAPN3):c.802-9G>A	CAPN3	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 166787	NM_000070.3(CAPN3):c.984C>T (p.Cys328=)	CAPN3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 501051	NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)	CAPN3 (G333D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GUncertain significance
Select item 468639	NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)	CAPN3 (G367S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GConflicting classifications of pathogenicity
Select item 553468	NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys)	CAPN3 (Y401C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281505	NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	CAPN3 (T417M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more	GPathogenic/Likely pathogenic
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 +4 more	GPathogenic/Likely pathogenic
Select item 217147	NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	CAPN3 (R440Q +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic
Select item 92405	NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)	CAPN3 (S479G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 497181	NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met)	CAPN3 (L484M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 217150	NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)	CAPN3 (R489W +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GPathogenic
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 166790	NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	CAPN3 (R490W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more	GPathogenic/Likely pathogenic
Select item 17622	NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	CAPN3 (R490Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 286477	NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly)	CAPN3 (R493G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more	GConflicting classifications of pathogenicity
Select item 285138	NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)	CAPN3 (A529T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more	GUncertain significance
Select item 498267	NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	CAPN3 (R541W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic/Likely pathogenic
Select item 284783	NM_000070.3(CAPN3):c.1637G>A (p.Arg546His)	CAPN3 (R546H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 468644	NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)	CAPN3 (V555I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GConflicting classifications of pathogenicity
Select item 217152	NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)	CAPN3 (R572W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic
Select item 651266	NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg)	CAPN3 (K596R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 289372	NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	CAPN3 (S606L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 468646	NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)	CAPN3 (A662S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 553313	NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del)	CAPN3 (G663del +3 more)	Deletion (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 282494	NM_000070.3(CAPN3):c.1993-1G>A	CAPN3	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 499036	NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)	CAPN3 (R698H +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 852590	NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr)	CAPN3 (I36T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +1 more	GUncertain significance
Select item 468648	NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	CAPN3 (D707G +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 536509	NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp)	CAPN3 (N713D +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more	GUncertain significance
Select item 128570	NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)	CAPN3 (R748Q +4 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more	GPathogenic/Likely pathogenic
Select item 552945	NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)	CAPN3 (D107fs +4 more)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +1 more	GPathogenic
Select item 17618	NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	CAPN3 (R123fs +4 more)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more	GPathogenic
Select item 92414	NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)	CAPN3 (A798E +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +3 more	GPathogenic/Likely pathogenic

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Items: 50