"GDNF-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636280	NM_000514.4(GDNF):c.508G>A (p.Val170Met)	GDNF (V118M +4 more)	Single nucleotide variant (missense variant)	GDNF-related disorder	GUncertain significance
Select item 8758	NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)	GDNF (R93W +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 227376	NM_000514.4(GDNF):c.222A>G (p.Arg74=)	GDNF	Single nucleotide variant (synonymous variant)	GDNF-related disorder +3 more	GLikely benign
Select item 3051144	NM_000514.4(GDNF):c.183C>T (p.Phe61=)	GDNF	Single nucleotide variant (synonymous variant)	GDNF-related disorder	GLikely benign
Select item 497943	NM_000514.4(GDNF):c.138G>A (p.Ala46=)	GDNF	Single nucleotide variant (synonymous variant +1 more)	GDNF-related disorder +1 more	GConflicting classifications of pathogenicity

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