Related gene-specific medical variations for Gene (Select 340485) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2609051	NM_001010887.3(ACER2):c.587G>A (p.Arg196Gln)	ACER2, LOC126860590 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599687	NM_001010887.3(ACER2):c.542C>T (p.Ser181Leu)	ACER2, LOC126860590 (S181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553561	NM_001010887.3(ACER2):c.528G>T (p.Lys176Asn)	ACER2, LOC126860590 (K176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542719	NM_001010887.3(ACER2):c.514A>G (p.Met172Val)	ACER2, LOC126860590 (M172V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530460	NM_001010887.3(ACER2):c.623C>T (p.Pro208Leu)	ACER2, LOC126860590 (P208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299802	NM_001010887.3(ACER2):c.535C>T (p.Leu179Phe)	ACER2, LOC126860590 (L179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563568	GRCh37/hg19 9p22.1(chr9:19399640-19464384)x1	ACER2	Copy number loss	not provided	GLikely benign

ClinVar