ClinVar for Gene (Select 107882129) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036579	NM_001201397.2(EDNRB):c.90A>G (p.Arg30=)	EDNRB, LOC107882129	Single nucleotide variant (synonymous variant +1 more)	EDNRB-related disorder	GLikely benign
Select item 1279168	NM_000115.5(EDNRB):c.-51-272G>C	EDNRB, LOC107882129	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277857	NM_000115.5(EDNRB):c.-51-460T>G	EDNRB, LOC107882129	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223528	NM_000115.5(EDNRB):c.-51-1102del	EDNRB, LOC107882129	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1199653	NM_000115.5(EDNRB):c.-51-455A>G	LOC107882129, EDNRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1064933	NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)	EDNRB, LOC107882129 (C6*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome +2 more	GConflicting classifications of pathogenicity
Select item 807030	NM_001201397.2(EDNRB):c.159delC (p.Arg54Alafs)	EDNRB, LOC107882129 (R54fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 505270	NM_001201397.2(EDNRB):c.11G>C (p.Ser4Thr)	LOC107882129, EDNRB (S4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 505204	NM_001201397.2(EDNRB):c.164T>G (p.Leu55Arg)	EDNRB, LOC107882129 (L55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 228663	NM_001201397.2(EDNRB):c.7A>T (p.Lys3Ter)	EDNRB, LOC107882129 (K3*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 226624	NM_001201397.2(EDNRB):c.39G>T (p.Pro13=)	EDNRB, LOC107882129	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155612	GRCh38/hg38 13q22.3-31.1(chr13:77437522-78501976)x3	EDNRB, EDNRB-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 153559	GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1	ACOD1, CLN5 +50 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	KLF5, LINC00331 +141 more	Copy number loss	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	ACOD1, ALG11 +513 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	LOC130009900, LOC130009901 +232 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 58262	GRCh38/hg38 13q22.3(chr13:77776013-78349185)x3	EDNRB, EDNRB-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	ACOD1, ALG11 +657 more	Copy number loss	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 16641	NM_001201397.2(EDNRB):c.43A>T (p.Lys15Ter)	EDNRB, LOC107882129 (K15*)	Single nucleotide variant (nonsense +1 more)	Hirschsprung disease, susceptibility to, 2	Grisk factor

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Links from Gene

Items: 44