LOC613266[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
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 149072	GRCh38/hg38 20p12.1(chr20:15344777-16233253)x4	LOC130065439, LOC130065440 +6 more	Copy number gain	See cases	GUncertain significance
Select item 734279	NM_001351661.2(MACROD2):c.783C>T (p.Asn261=)	LOC613266, MACROD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218829	NM_001351661.2(MACROD2):c.805G>A (p.Val269Met)	LOC613266, MACROD2 (V269M +1 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 2494268	NM_001351661.2(MACROD2):c.835G>T (p.Ala279Ser)	LOC613266, MACROD2 (A279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264561	NM_001351661.2(MACROD2):c.850A>G (p.Thr284Ala)	LOC613266, MACROD2 (T49A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121927	NM_001351661.2(MACROD2):c.865G>A (p.Gly289Ser)	LOC613266, MACROD2 (G54S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057099	NM_001351661.2(MACROD2):c.940G>A (p.Gly314Ser)	LOC613266, MACROD2 (G314S +1 more)	Single nucleotide variant (missense variant)	MACROD2-related disorder	GBenign