ClinVar for MedGen (Select 9232) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627565	NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)	GLI3 (T541M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +11 more	GConflicting classifications of pathogenicity
Select item 549661	NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	ACTL6A (R377W +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect +14 more	GConflicting classifications of pathogenicity
Select item 523273	GRCh37/hg19 22q11.21(chr22:18894835-20311763)	DGCR6L, DGCR8 +27 more	Copy number loss	Velopharyngeal insufficiency +8 more	GPathogenic
Select item 523237	GRCh37/hg19 1p36.22(chr1:12019879-12028775)	PLOD1	Copy number gain	Severe global developmental delay +7 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 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 267812	46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn		Complex	Hydrocele testis +10 more	GPathogenic

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