2668[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
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 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
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 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 154284	GRCh38/hg38 5p13.2(chr5:37543146-38120326)x3	GDNF, GDNF-AS1 +13 more	Copy number gain	See cases	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 353472	NM_000514.4(GDNF):c.2829_2830del	GDNF	Deletion (3 prime UTR variant)	Hirschsprung Disease, Dominant +1 more	GUncertain significance
Select item 353473	NM_000514.4(GDNF):c.*2828T>A	GDNF	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 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 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 353476	NM_000514.4(GDNF):c.*2643C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
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 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 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 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 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 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 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 353479	NM_000514.4(GDNF):c.*2204G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3 +1 more	GBenign
Select item 353480	NM_000514.4(GDNF):c.*2162G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3 +1 more	GBenign
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 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 353481	NM_000514.4(GDNF):c.*2067del	GDNF	Deletion (3 prime UTR variant)	Hirschsprung Disease, Dominant	GUncertain significance
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 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 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 353485	NM_000514.4(GDNF):c.*1898C>A	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 353487	NM_000514.4(GDNF):c.*1785G>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
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 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 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 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 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 353491	NM_000514.4(GDNF):c.*1651A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3 +1 more	GBenign
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 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 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 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 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 353497	NM_000514.4(GDNF):c.*1541T>A	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
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 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 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 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 353500	NM_000514.4(GDNF):c.*1389A>G	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
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 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 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 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 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 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 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 907078	NM_000514.4(GDNF):c.*1199A>T	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 353506	NM_000514.4(GDNF):c.*1004T>C	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
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 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 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 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 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 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 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 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 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 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 903709	NM_000514.4(GDNF):c.*450C>T	GDNF	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 3	GBenign
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 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 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 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 353518	NM_000514.4(GDNF):c.128_133del	GDNF	Deletion (3 prime UTR variant)	Hirschsprung Disease, Dominant +1 more	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 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 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 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 8761	NM_000514.4(GDNF):c.633C>G (p.Ile211Met)	GDNF (I211M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 274009	NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del)	GDNF	Deletion (inframe_deletion)	Hirschsprung disease, susceptibility to, 1	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 196280	NM_000514.4(GDNF):c.540A>G (p.Arg180=)	GDNF	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 3 +2 more	GBenign
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 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 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 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 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 696667	NM_000514.4(GDNF):c.447C>T (p.Cys149=)	GDNF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 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 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 733459	NM_000514.4(GDNF):c.345C>T (p.Asn115=)	GDNF	Single nucleotide variant (synonymous variant)	not provided	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 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 8758	NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)	GDNF (R93W +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign

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