"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330156	NM_001127255.2(NLRP7):c.2775A>G (p.Ala925=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 330158	NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 97735	NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile)	NCR1, NLRP7 (V699I +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +1 more	GConflicting classifications of pathogenicity
Select item 97734	NM_001127255.2(NLRP7):c.2094C>T (p.His698=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1 +2 more	GConflicting classifications of pathogenicity
Select item 287106	NM_001127255.2(NLRP7):c.1441G>A (p.Ala481Thr)	NLRP7 (A481T)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 1 +2 more	GBenign
Select item 97804	NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu)	NLRP7 (M192L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330181	NM_001127255.2(NLRP7):c.531C>T (p.His177=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1	GConflicting classifications of pathogenicity
Select item 330183	NM_001127255.2(NLRP7):c.390G>A (p.Gln130=)	NLRP7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 97894	NM_001127255.2(NLRP7):c.-39-16C>T	NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole, recurrent, 1 +2 more	GBenign