C1850569[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1440785	NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr)	NEB, RIF1 (P5994T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1044923	NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser)	NEB, RIF1 (N5544S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 644636	NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)	NEB (V4858I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1052624	NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr)	NEB (N3964T +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 447758	NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)	NEB (M1490T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 331513	NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)	NEB (D1329A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 972358	NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)	NEB	Deletion (nonsense)	NEB-related condition +1 more	GPathogenic/Likely pathogenic

ClinVar