ClinVar for MedGen (Select 1617) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	CCDC183, LRRC26 +68 more	Copy number loss	Cryptorchidism +1 more	GPathogenic
Select item 598982	NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	OBSL1 (W1114*)	Single nucleotide variant (nonsense)	Coarctation of aorta +12 more	GUncertain significance
Select item 598981	NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	OBSL1 (R994C)	Single nucleotide variant (missense variant)	Heart block +12 more	GUncertain significance
Select item 523268	GRCh37/hg19 1p36.21(chr1:13801823-14012604)	PDPN, LRRC38	Copy number gain	Tall stature +2 more	GUncertain significance
Select item 268037	46;XY;t(2;14)(p22;q24.3)dn		Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 267817	46;XY;t(1;5)(p35.3;q31.3)dn		Translocation	Low-set, posteriorly rotated ears +17 more	GPathogenic
Select item 133221	NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	RYR1 (E2764K)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database

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