LOC130056981[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 584325	NC_000015.9:g.(?_45152372)_(45670671_?)dup	LOC130056982, LOC121847946 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	LOC130057000, LOC130057001 +40 more	Copy number gain	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	AFG2B, C15orf48 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2243643	NM_001276266.2(DUOXA1):c.*1067C>A	DUOXA1, DUOXA2 +1 more (A341E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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