ClinVar for MedGen (Select 109373) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570695	NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)	MARK2 (R610L +3 more)	Single nucleotide variant (missense variant)	Seizure +5 more	GUncertain significance
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
Select item 375377	NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile)	HIVEP1 (M1363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375376	NM_001039803.3(CDK20):c.564G>A (p.Trp188Ter)	CDK20 (W188*)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 267966	46;XX;t(2;5)(q33;p15.3)		Translocation	Oppositional defiant disorder +5 more	GUncertain significance
Select item 267880	46;XY;t(1;2)(q31.2;p15)		Translocation	Obesity +5 more	GLikely pathogenic
Select item 267865	46;XY;t(2;11)(q31;q13.5)pat		Translocation	Attention deficit hyperactivity disorder +6 more	GUncertain significance

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