"Ambry Genetics"[submitter] AND "LOC130056739"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614421	NM_020371.3(AVEN):c.220G>A (p.Gly74Ser)	AVEN, CHRM5 +1 more (G74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495403	NM_020371.3(AVEN):c.196C>G (p.Arg66Gly)	AVEN, CHRM5 +1 more (R66G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538018	NM_020371.3(AVEN):c.191G>A (p.Gly64Glu)	AVEN, CHRM5 +1 more (G64E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233460	NM_020371.3(AVEN):c.166G>A (p.Gly56Ser)	AVEN, CHRM5 +1 more (G56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132376	NM_020371.3(AVEN):c.163C>T (p.Arg55Cys)	AVEN, CHRM5 +1 more (R55C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539356	NM_020371.3(AVEN):c.143G>A (p.Gly48Asp)	AVEN, CHRM5 +1 more (G48D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592305	NM_020371.3(AVEN):c.140G>C (p.Gly47Ala)	AVEN, CHRM5 +1 more (G47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272469	NM_020371.3(AVEN):c.136G>T (p.Asp46Tyr)	AVEN, CHRM5 +1 more (D46Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333808	NM_020371.3(AVEN):c.130G>C (p.Gly44Arg)	AVEN, CHRM5 +1 more (G44R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333828	NM_020371.3(AVEN):c.112G>A (p.Gly38Ser)	AVEN, CHRM5 +1 more (G38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance