NBPF11[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2639126	NM_001385469.3(NBPF11):c.1983C>T (p.Tyr661=)	NBPF11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3179612	NM_001385469.3(NBPF11):c.1883A>G (p.Glu628Gly)	NBPF11 (E628G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179607	NM_001385469.3(NBPF11):c.1874A>C (p.Asp625Ala)	NBPF11 (D625A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179602	NM_001385469.3(NBPF11):c.1808G>A (p.Arg603Gln)	NBPF11 (R528Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344127	NM_001385469.3(NBPF11):c.229T>C (p.Phe77Leu)	NBPF11 (F77L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2639115	Single allele	NBPF11	Single nucleotide variant	not provided	GLikely benign

ClinVar