ClinVar for MedGen (Select 784514) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523240	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Hypoplasia of scrotum +5 more	GPathogenic
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 267922	46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn		Translocation	Triangular face +14 more	GUncertain significance
Select item 267894	46;XX;t(4;13)(q27;q21.2)dn		Translocation	Short chin +2 more	GUncertain significance
Select item 267841	46;XX;t(7;13)(p13;q34)dn		Translocation	Downslanted palpebral fissures +18 more	GPathogenic
Select item 228536	NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)	COL11A2 (R1520H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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