LOC130065739[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 150003	GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3	ACSS2, GGT7 +10 more	Copy number gain	See cases	GLikely benign
Select item 3140999	NM_018677.4(ACSS2):c.30C>G (p.Ser10Arg)	ACSS2, LOC130065739 (S10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568214	NM_018677.4(ACSS2):c.80G>C (p.Arg27Pro)	ACSS2, LOC130065739 (R27P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341774	NM_018677.4(ACSS2):c.81G>A (p.Arg27=)	ACSS2, LOC130065739	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2362316	NM_018677.4(ACSS2):c.86G>C (p.Trp29Ser)	ACSS2, LOC130065739 (W29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140927	NM_018677.4(ACSS2):c.121G>A (p.Val41Ile)	ACSS2, LOC130065739 (V41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781546	NM_018677.4(ACSS2):c.124C>A (p.Pro42Thr)	ACSS2, LOC130065739 (P42T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3140943	NM_018677.4(ACSS2):c.134A>G (p.Gln45Arg)	ACSS2, LOC130065739 (Q45R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410509	NM_018677.4(ACSS2):c.155G>C (p.Arg52Pro)	ACSS2, LOC130065739 (R52P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263443	NM_018677.4(ACSS2):c.163G>C (p.Val55Leu)	ACSS2, LOC130065739 (V55L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance