ClinVar for Gene (Select 2668) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353198	NM_000514.4(GDNF):c.-26-10G>T	GDNF	Single nucleotide variant (intron variant)	GDNF-related disorder	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 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 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
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 3051144	NM_000514.4(GDNF):c.183C>T (p.Phe61=)	GDNF	Single nucleotide variant (synonymous variant)	GDNF-related disorder	GLikely benign
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
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 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	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 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 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 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
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 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 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 1275197	NM_000514.4(GDNF):c.*131GGA[9]	GDNF	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1228021	NM_000514.4(GDNF):c.*131GGA[12]	GDNF	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1221798	NM_000514.4(GDNF):c.152-73C>T	GDNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 979502	GRCh37/hg19 5p13.2(chr5:36960223-37813255)x3	WDR70, NUP155 +3 more	Copy number gain	not provided	GUncertain significance
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)	not specified +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 +1 more	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 +1 more	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 733459	NM_000514.4(GDNF):c.345C>T (p.Asn115=)	GDNF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706258	NM_000514.4(GDNF):c.151+9C>T	GDNF	Single nucleotide variant (intron variant)	not provided	GLikely 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 696122	NM_000514.4(GDNF):c.310A>G (p.Arg104Gly)	GDNF (R78G +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
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 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 497943	NM_000514.4(GDNF):c.138G>A (p.Ala46=)	GDNF	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395391	GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3	C9, EGFLAM +10 more	Copy number gain	See cases	GUncertain significance
Select item 369473	NM_000514.4(GDNF):c.-227CGG[6]	GDNF	Microsatellite (5 prime UTR variant)	Hirschsprung Disease, Dominant	GLikely benign
Select item 353520	NM_000514.4(GDNF):c.-51A>G	GDNF	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 3 +1 more	GBenign
Select item 353519	NM_000514.4(GDNF):c.*93A>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3 +1 more	GLikely benign
Select item 353518	NM_000514.4(GDNF):c.128_133del	GDNF	Deletion (3 prime UTR variant)	Hirschsprung Disease, Dominant +1 more	GUncertain significance
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 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 +1 more	GBenign
Select item 353514	NM_000514.4(GDNF):c.*529G>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3 +1 more	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 +1 more	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 +1 more	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 +1 more	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

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