LOC126863038[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2308461	NM_022104.4(PCIF1):c.1045G>A (p.Val349Ile)	LOC126863038, PCIF1 (V349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210204	NM_022104.4(PCIF1):c.1049C>T (p.Ser350Leu)	LOC126863038, PCIF1 (S350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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