ClinVar for MedGen (Select 98138) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666336	NM_005584.5(MAB21L1):c.737dup (p.Cys246fs)	MAB21L1, NBEA (C246fs)	Duplication (frameshift variant +1 more)	Hypoplasia of scrotum	GLikely pathogenic
Select item 523240	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Hypoplasia of scrotum +5 more	GPathogenic
Select item 374175	NM_004278.4(PIGL):c.176C>A (p.Pro59His)	PIGL (P59H)	Single nucleotide variant (missense variant)	CHIME syndrome +8 more	GUncertain significance
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 30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	PIGL (L167P)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GPathogenic
Select item 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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