"Ambry Genetics"[submitter] AND "LOC126807615"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2594792	NM_016391.8(NOP16):c.206G>T (p.Arg69Leu)	ARL10, LOC126807615 +1 more (R69L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256715	NM_016391.8(NOP16):c.148C>T (p.Arg50Trp)	ARL10, LOC126807615 +1 more (R45W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3105851	NM_138820.4(HIGD2A):c.25C>A (p.Pro9Thr)	ARL10, HIGD2A +1 more (P9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386489	NM_138820.4(HIGD2A):c.74G>A (p.Ser25Asn)	ARL10, HIGD2A +1 more (S25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490073	NM_138820.4(HIGD2A):c.90G>C (p.Arg30Ser)	ARL10, HIGD2A +1 more (R30S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105852	NM_138820.4(HIGD2A):c.98A>C (p.Glu33Ala)	ARL10, HIGD2A +1 more (E33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596141	NM_138820.4(HIGD2A):c.131G>A (p.Arg44His)	ARL10, HIGD2A +1 more (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105850	NM_138820.4(HIGD2A):c.133G>C (p.Glu45Gln)	ARL10, HIGD2A +1 more (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204329	NM_138820.4(HIGD2A):c.140C>T (p.Pro47Leu)	ARL10, HIGD2A +1 more (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance