C1833736[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 468825	NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)	ANO5 (R50* +1 more)	Single nucleotide variant (nonsense)	Gnathodiaphyseal dysplasia +2 more	GPathogenic
Select item 2164	NM_213599.3(ANO5):c.191dup (p.Asn64fs)	ANO5 (N63fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy +12 more	GPathogenic/Likely pathogenic
Select item 289652	NM_213599.3(ANO5):c.424A>T (p.Thr142Ser)	ANO5 (T142S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 128391	NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)	ANO5 (T206A +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +5 more	GBenign/Likely benign
Select item 2165	NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	ANO5 (G230V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 96686	NM_213599.3(ANO5):c.879-18T>C	ANO5	Single nucleotide variant (intron variant)	Miyoshi muscular dystrophy 3 +4 more	GBenign
Select item 2163	NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)	ANO5 (A432G +1 more)	Single nucleotide variant (missense variant)	Gnathodiaphyseal dysplasia +4 more	GPathogenic
Select item 140553	NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	ANO5 (F578S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +4 more	GPathogenic/Likely pathogenic
Select item 194805	NM_213599.3(ANO5):c.1898+1G>A	ANO5	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 195543	NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)	ANO5 (S796L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +5 more	GBenign/Likely benign
Select item 285338	NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)	ANO5 (M833K +1 more)	Single nucleotide variant (missense variant)	ANO5-related disorder +4 more	GPathogenic/Likely pathogenic