ClinVar for MedGen (Select 871309) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180720	NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter)	CC2D2A (R440* +1 more)	Single nucleotide variant (nonsense)	Abnormality of prenatal development or birth +2 more	GPathogenic/Likely pathogenic
Select item 1180716	NM_018131.5(CEP55):c.1147G>T (p.Glu383Ter)	CEP55 (E383*)	Single nucleotide variant (nonsense)	Abnormality of prenatal development or birth	GLikely pathogenic
Select item 1180709	NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)	CTSA (Q316* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined deficiency of sialidase AND beta galactosidase +1 more	GPathogenic/Likely pathogenic
Select item 843406	NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)	CEP290 (Q869*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 805945	NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)	TBX4 (Y113*)	Single nucleotide variant (nonsense)	Abnormality of prenatal development or birth	GPathogenic
Select item 268020	46;XX;inv(1)(p36q25)dn		Inversion	Abnormality of prenatal development or birth	GLikely pathogenic
Select item 268003	46;XY;t(5;15)(q13.1;q13)		Translocation	Abnormality of prenatal development or birth	GPathogenic
Select item 267997	46;XY;t(5;8)(q15;q22.1)		Translocation	Abnormality of prenatal development or birth	GUncertain significance
Select item 267969	46;X;inv(X)(p11.21p11.23)		Inversion	Short stature +1 more	GUncertain significance
Select item 217623	NM_025114.4(CEP290):c.1666dup (p.Ile556fs)	CEP290 (I556fs)	Duplication (frameshift variant)	Joubert syndrome 1 +9 more	GPathogenic/Likely pathogenic
Select item 50208	NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)	ACE (R496*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 18342	NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	CHRNG (V253fs)	Deletion (frameshift variant)	CHRNG-Related Disorders +5 more	GPathogenic
Select item 13820	NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)	GLI3 (R643*)	Single nucleotide variant (nonsense)	GLI3-related condition +1 more	GPathogenic
Select item 1076	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	RPGRIP1L (Q684*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +6 more	GPathogenic/Likely pathogenic