ClinVar for MedGen (Select 462324) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931232	NM_000514.4(GDNF):c.-26G>T	GDNF (G9V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 930475	NM_000514.4(GDNF):c.390G>T (p.Leu130Phe)	GDNF (L104F +4 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 907135	NM_000514.4(GDNF):c.-132G>C	GDNF	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 907134	NM_000514.4(GDNF):c.-42G>T	GDNF	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 907078	NM_000514.4(GDNF):c.*1199A>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 907077	NM_000514.4(GDNF):c.*1246C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 907022	NM_000514.4(GDNF):c.*2119C>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 907021	NM_000514.4(GDNF):c.*2150T>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 906141	NM_000514.4(GDNF):c.-34G>T	GDNF	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906140	NM_000514.4(GDNF):c.151+9C>G	GDNF	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906139	NM_000514.4(GDNF):c.272G>A (p.Arg91Gln)	GDNF (R65Q +4 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906138	NM_000514.4(GDNF):c.292G>T (p.Ala98Ser)	GDNF (A72S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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	GUncertain significance
Select item 906074	NM_000514.4(GDNF):c.*1360A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906073	NM_000514.4(GDNF):c.*1375T>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 906072	NM_000514.4(GDNF):c.*1433A>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906003	NM_000514.4(GDNF):c.*2213G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906002	NM_000514.4(GDNF):c.*2265T>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906001	NM_000514.4(GDNF):c.*2267G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 906000	NM_000514.4(GDNF):c.*2318G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 905999	NM_000514.4(GDNF):c.*2446G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 905627	NM_000514.4(GDNF):c.*116G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 905626	NM_000514.4(GDNF):c.*131G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 905625	NM_000514.4(GDNF):c.*235G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 905567	NM_000514.4(GDNF):c.*1540A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 905489	NM_000514.4(GDNF):c.*2646C>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 904777	NM_000514.4(GDNF):c.*1699G>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 904776	NM_000514.4(GDNF):c.*1782G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 903709	NM_000514.4(GDNF):c.*450C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 903708	NM_000514.4(GDNF):c.*617A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 903707	NM_000514.4(GDNF):c.*795C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
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 667238	NM_000514.4(GDNF):c.*5G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 353520	NM_000514.4(GDNF):c.-51A>G	GDNF	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353519	NM_000514.4(GDNF):c.*93A>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353516	NM_000514.4(GDNF):c.*346C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353515	NM_000514.4(GDNF):c.*363A>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353514	NM_000514.4(GDNF):c.*529G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353513	NM_000514.4(GDNF):c.*532A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353512	NM_000514.4(GDNF):c.*717T>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353511	NM_000514.4(GDNF):c.*807G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353510	NM_000514.4(GDNF):c.*907G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353509	NM_000514.4(GDNF):c.*912A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353508	NM_000514.4(GDNF):c.*958A>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353507	NM_000514.4(GDNF):c.*988A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353506	NM_000514.4(GDNF):c.*1004T>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353505	NM_000514.4(GDNF):c.*1141C>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353504	NM_000514.4(GDNF):c.*1244A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353503	NM_000514.4(GDNF):c.*1264C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353502	NM_000514.4(GDNF):c.*1276A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353501	NM_000514.4(GDNF):c.*1331G>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353500	NM_000514.4(GDNF):c.*1389A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353499	NM_000514.4(GDNF):c.*1406G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353498	NM_000514.4(GDNF):c.*1534G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353497	NM_000514.4(GDNF):c.*1541T>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353496	NM_000514.4(GDNF):c.*1587G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353495	NM_000514.4(GDNF):c.*1592G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353494	NM_000514.4(GDNF):c.*1605T>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353493	NM_000514.4(GDNF):c.*1612C>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353492	NM_000514.4(GDNF):c.*1627C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353491	NM_000514.4(GDNF):c.*1651A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353490	NM_000514.4(GDNF):c.*1657C>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353489	NM_000514.4(GDNF):c.*1693G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353488	NM_000514.4(GDNF):c.*1713C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353487	NM_000514.4(GDNF):c.*1785G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353486	NM_000514.4(GDNF):c.*1788G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353485	NM_000514.4(GDNF):c.*1898C>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353484	NM_000514.4(GDNF):c.*1927C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353483	NM_000514.4(GDNF):c.*2014G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353482	NM_000514.4(GDNF):c.*2059C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353480	NM_000514.4(GDNF):c.*2162G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353479	NM_000514.4(GDNF):c.*2204G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353478	NM_000514.4(GDNF):c.*2440G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GLikely benign
Select item 353477	NM_000514.4(GDNF):c.*2556T>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353476	NM_000514.4(GDNF):c.*2643C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353475	NM_000514.4(GDNF):c.*2651C>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353474	NM_000514.4(GDNF):c.*2713G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
Select item 353473	NM_000514.4(GDNF):c.*2828T>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GUncertain significance
Select item 353471	NM_000514.4(GDNF):c.*2883G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
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
Select item 227376	NM_000514.4(GDNF):c.222A>G (p.Arg74=)	GDNF	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 196280	NM_000514.4(GDNF):c.540A>G (p.Arg180=)	GDNF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 163500	NM_000514.4(GDNF):c.429G>A (p.Arg143=)	GDNF	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 8761	NM_000514.4(GDNF):c.633C>G (p.Ile211Met)	GDNF (I211M +4 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 3	Grisk factor
Select item 8760	NM_000514.4(GDNF):c.460A>T (p.Thr154Ser)	GDNF (T154S +4 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 3	Grisk factor
Select item 8759	NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)	GDNF (D150N +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 8758	NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)	GDNF (R93W +4 more)	Single nucleotide variant (missense variant)	GDNF-related condition +3 more	GLikely benign

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Items: 87