C0040034[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 255039	NM_000092.5(COL4A4):c.4217-15T>C	COL4A4	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 374041	NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln)	COL4A4 (E1019Q)	Single nucleotide variant (missense variant)	Hypertensive disorder +3 more	GUncertain significance
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 523249	GRCh37/hg19 15q11.2(chr15:22765628-23300287)	CYFIP1, NIPA1 +2 more	Copy number loss	Numerous pigmented freckles +9 more	GPathogenic
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Breast and colorectal cancer, susceptibility to +19 more	GPathogenic
Select item 523453	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	MYH9 (D1424G)	Single nucleotide variant (missense variant)	MYH9-related disorder +10 more	GLikely pathogenic

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