C3150974[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196280	NM_000514.4(GDNF):c.540A>G (p.Arg180=)	GDNF	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 3 +2 more	GBenign
Select item 8759	NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)	GDNF (D150N +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 696667	NM_000514.4(GDNF):c.447C>T (p.Cys149=)	GDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 8758	NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)	GDNF (R93W +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 227376	NM_000514.4(GDNF):c.222A>G (p.Arg74=)	GDNF	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 3 +2 more	GLikely benign
Select item 285762	NM_000514.4(GDNF):c.61C>T (p.Pro21Ser)	GDNF (P21S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

ClinVar