ClinVar for MedGen (Select 896658) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030144	NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala)	GIGYF2 (T737A +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	GUncertain significance
Select item 931848	NM_001103146.3(GIGYF2):c.2489A>T (p.Glu830Val)	GIGYF2 (E830V +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	GUncertain significance
Select item 522283	NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 518340	NM_001103146.3(GIGYF2):c.3684+15G>A	GIGYF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518339	NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 518338	NM_001103146.3(GIGYF2):c.3630_3632del (p.Gln1216del)	GIGYF2 (Q1216del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 518337	NM_001103146.3(GIGYF2):c.3461-9G>A	GIGYF2	Single nucleotide variant (intron variant)	Parkinson disease 11, autosomal dominant, susceptibility to +1 more	GBenign
Select item 518336	NM_001103146.3(GIGYF2):c.2940A>G (p.Gln980=)	GIGYF2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 402899	NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)	GIGYF2 (Q1211fs +2 more)	Insertion (frameshift variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 216934	NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)	GIGYF2 (A793V +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 757	NM_001103146.3(GIGYF2):c.1262A>G (p.Lys421Arg)	GIGYF2 (K421R +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 756	NM_001103146.3(GIGYF2):c.832A>G (p.Ile278Val)	GIGYF2 (I278V +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 755	NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu)	GIGYF2 (D606E +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 754	NM_001103146.3(GIGYF2):c.1370A>C (p.Asn457Thr)	GIGYF2 (N457T +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 11, autosomal dominant, susceptibility to	Grisk factor
Select item 753	NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)	GIGYF2 (N56S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance