"GeneDx"[submitter] AND "AMOTL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 2442704	NM_130847.3(AMOTL1):c.470G>T (p.Arg157Leu)	AMOTL1 (R107L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929484	NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)	AMOTL1 (P110L +1 more)	Single nucleotide variant (missense variant)	Hypertelorism +6 more	GConflicting classifications of pathogenicity
Select item 2430711	NM_130847.3(AMOTL1):c.1523T>C (p.Ile508Thr)	AMOTL1 (I458T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370753	NM_130847.3(AMOTL1):c.1561C>T (p.Arg521Ter)	AMOTL1 (R471* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371683	NM_130847.3(AMOTL1):c.1570A>G (p.Thr524Ala)	AMOTL1 (T474A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372120	NM_130847.3(AMOTL1):c.2863C>T (p.Leu955Phe)	AMOTL1 (L905F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar