ClinVar for MedGen (Select 2661) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548122	NM_006767.4(LZTR1):c.1146G>A (p.Ser382=)	LZTR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 548121	NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe)	LZTR1 (S698F)	Single nucleotide variant (missense variant)	Diffuse midline glioma, H3 K27-altered +4 more	GUncertain significance
Select item 267944	46;XY;t(8;9)(p11.2;q13)dn		Translocation	Bladder exstrophy	GUncertain significance

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