Related gene-specific medical variations for Gene (Select 91977) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298120	NM_001122853.3(MYOZ3):c.401C>T (p.Pro134Leu)	MYOZ3, MYOZ3-AS1 (P134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298118	NM_001122853.3(MYOZ3):c.418G>A (p.Ala140Thr)	MYOZ3, MYOZ3-AS1 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169360	NM_001122853.3(MYOZ3):c.94G>A (p.Val32Met)	MYOZ3, MYOZ3-AS1 (V32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169342	NM_001122853.3(MYOZ3):c.454C>A (p.Pro152Thr)	MYOZ3, MYOZ3-AS1 (P152T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169333	NM_001122853.3(MYOZ3):c.317T>G (p.Leu106Arg)	MYOZ3, MYOZ3-AS1 (L106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604971	NM_001122853.3(MYOZ3):c.392G>A (p.Gly131Glu)	MYOZ3, MYOZ3-AS1 (G131E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490693	NM_001122853.3(MYOZ3):c.545G>T (p.Arg182Leu)	MYOZ3, MYOZ3-AS1 (R182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394997	NM_001122853.3(MYOZ3):c.107T>C (p.Leu36Pro)	MYOZ3, MYOZ3-AS1 (L36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297941	NM_001122853.3(MYOZ3):c.397G>A (p.Val133Ile)	MYOZ3, MYOZ3-AS1 (V133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278104	NM_001122853.3(MYOZ3):c.409A>G (p.Ser137Gly)	MYOZ3, MYOZ3-AS1 (S137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance