ClinVar (all) for Orgtrack (Select 506396) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 592175	t(X;9)(q23;q12)dn	AMMECR1	Translocation	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 592174	t(X;9)(q13.3;cen)	ZDHHC15	Translocation	not specified	GUncertain significance
Select item 592173	t(X;3)(q13.3;q11.2)dn	NEXMIF	Translocation	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 592172	t(X;11)(q21.1;q14.2)	APOOL	Translocation	not specified	GUncertain significance
Select item 592171	t(X;18)(p21.1;q21.31)	NEDD4L	Translocation	Periventricular nodular heterotopia 7	GLikely pathogenic
Select item 592169	t(X;19)(p21.2;q13.41)dn	IL1RAPL1, ZNF611	Translocation	not specified	GUncertain significance
Select item 446219	NC_000023.11:g.110250890_110665082del	RTL9, AMMECR1 +9 more	Deletion	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GPathogenic
Select item 446130	NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter)	AMMECR1 (Y143* +1 more)	Single nucleotide variant (nonsense)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 375305	NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter)	AMMECR1 (R45* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

ClinVar