"Ambry Genetics"[submitter] AND "GDNF"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2236537	NM_000514.4(GDNF):c.569T>G (p.Phe190Cys)	GDNF (F138C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222365	NM_000514.4(GDNF):c.464C>T (p.Thr155Met)	GDNF (T146M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281162	NM_000514.4(GDNF):c.457G>A (p.Glu153Lys)	GDNF (E101K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 906137	NM_000514.4(GDNF):c.347G>A (p.Arg116Gln)	GDNF (R64Q +4 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 3 +1 more	GUncertain significance
Select item 906138	NM_000514.4(GDNF):c.292G>T (p.Ala98Ser)	GDNF (A72S +4 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 3 +1 more	GConflicting classifications of pathogenicity
Select item 3281161	NM_000514.4(GDNF):c.184G>A (p.Asp62Asn)	GDNF (D36N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099280	NM_000514.4(GDNF):c.115G>C (p.Gly39Arg)	GDNF (G56R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258557	NM_000514.4(GDNF):c.113T>C (p.Leu38Pro)	GDNF (L55P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275887	NM_000514.4(GDNF):c.73G>A (p.Gly25Ser)	GDNF (A25T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099281	NM_000514.4(GDNF):c.44A>C (p.His15Pro)	GDNF (H32P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance