"GeneDx"[submitter] AND "GDNF"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1228021	NM_000514.4(GDNF):c.*131GGA[12]	GDNF	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1275197	NM_000514.4(GDNF):c.*131GGA[9]	GDNF	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 353517	NM_000514.4(GDNF):c.*131GGA[10]	GDNF	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
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 163500	NM_000514.4(GDNF):c.429G>A (p.Arg143=)	GDNF	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 3 +2 more	GBenign/Likely benign
Select item 1316011	NM_000514.4(GDNF):c.169T>C (p.Tyr57His)	GDNF (Y31H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221798	NM_000514.4(GDNF):c.152-73C>T	GDNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279532	NM_000514.4(GDNF):c.152-251G>A	GDNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276337	NM_000514.4(GDNF):c.152-318G>A	GDNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320480	NM_000514.4(GDNF):c.121C>A (p.Arg41Ser)	GDNF (R41S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic