ClinVar for Gene (Select 63916) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275172	NM_133171.5(ELMO2):c.1404G>T (p.Glu468Asp)	ELMO2 (E468D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275171	NM_133171.5(ELMO2):c.1274A>C (p.Glu425Ala)	ELMO2 (E425A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275169	NM_133171.5(ELMO2):c.257G>A (p.Arg86His)	ELMO2 (R86H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3088338	NM_133171.5(ELMO2):c.767A>G (p.Asn256Ser)	ELMO2 (N256S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088337	NM_133171.5(ELMO2):c.440T>A (p.Leu147Gln)	ELMO2 (L147Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088336	NM_133171.5(ELMO2):c.1592A>G (p.Glu531Gly)	ELMO2 (E531G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088335	NM_133171.5(ELMO2):c.1584G>C (p.Glu528Asp)	ELMO2 (E440D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088334	NM_133171.5(ELMO2):c.1470C>A (p.Asn490Lys)	ELMO2 (N490K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088333	NM_133171.5(ELMO2):c.1435G>C (p.Glu479Gln)	ELMO2 (E391Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088332	NM_133171.5(ELMO2):c.1201A>G (p.Lys401Glu)	ELMO2 (K401E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046844	NM_133171.5(ELMO2):c.1171-6C>T	ELMO2	Single nucleotide variant (intron variant)	ELMO2-related disorder	GLikely benign
Select item 3045340	NM_133171.5(ELMO2):c.757-4A>G	ELMO2	Single nucleotide variant (intron variant)	ELMO2-related disorder	GLikely benign
Select item 3033193	NM_133171.5(ELMO2):c.975C>T (p.Asp325=)	ELMO2	Single nucleotide variant (synonymous variant)	ELMO2-related disorder	GLikely benign
Select item 2652370	NM_133171.5(ELMO2):c.270G>A (p.Glu90=)	ELMO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652369	NM_133171.5(ELMO2):c.672C>G (p.Leu224=)	ELMO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534897	NM_133171.5(ELMO2):c.448A>C (p.Thr150Pro)	ELMO2 (T62P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455011	NM_133171.5(ELMO2):c.1444A>G (p.Thr482Ala)	ELMO2 (T394A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324126	NM_133171.5(ELMO2):c.1887G>C (p.Glu629Asp)	ELMO2 (E541D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312156	NM_133171.5(ELMO2):c.1771G>A (p.Glu591Lys)	ELMO2 (E503K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306566	NM_133171.5(ELMO2):c.1360C>A (p.Gln454Lys)	ELMO2 (Q454K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294350	NM_133171.5(ELMO2):c.2008A>G (p.Met670Val)	ELMO2 (M582V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283843	NM_133171.5(ELMO2):c.1186A>G (p.Ser396Gly)	ELMO2 (S308G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221772	NM_133171.5(ELMO2):c.826C>T (p.Arg276Cys)	ELMO2 (R188C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212578	NM_133171.5(ELMO2):c.1433G>A (p.Arg478Gln)	ELMO2 (R390Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211974	NM_133171.5(ELMO2):c.2068C>T (p.Arg690Trp)	ELMO2 (R690W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705510	NM_133171.5(ELMO2):c.1065+1G>T	ELMO2	Single nucleotide variant (splice donor variant)	Primary intraosseous venous malformation	GPathogenic
Select item 1687388	NM_133171.5(ELMO2):c.311dup (p.Met104fs)	ELMO2 (M104fs +1 more)	Duplication (frameshift variant)	Primary intraosseous venous malformation	GPathogenic
Select item 1683740	NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter)	ELMO2 (R395* +1 more)	Single nucleotide variant (nonsense)	Primary intraosseous venous malformation	GLikely pathogenic
Select item 1679496	NM_133171.5(ELMO2):c.1416+9C>G	ELMO2	Single nucleotide variant (intron variant)	Primary intraosseous venous malformation	GLikely benign
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 1284203	NM_133171.5(ELMO2):c.1066-47T>C	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281391	NM_133171.5(ELMO2):c.1065+87A>G	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280831	NM_133171.5(ELMO2):c.1801+33T>C	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280049	NM_133171.5(ELMO2):c.-50-115G>A	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279359	NM_133171.5(ELMO2):c.1580+23C>G	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269238	NM_133171.5(ELMO2):c.1963-55G>T	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268043	NM_133171.5(ELMO2):c.807+163C>T	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266268	NM_133171.5(ELMO2):c.1802-113T>C	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265313	NM_133171.5(ELMO2):c.1279+233del	ELMO2	Deletion (intron variant)	not provided	GBenign
Select item 1263689	NM_133171.5(ELMO2):c.-50-76A>G	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253083	NM_133171.5(ELMO2):c.1279+19del	ELMO2	Deletion (intron variant)	Primary intraosseous venous malformation +1 more	GBenign/Likely benign
Select item 1246786	NM_133171.5(ELMO2):c.1885-149C>T	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245384	NM_133171.5(ELMO2):c.1963-106T>C	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236006	NM_133171.5(ELMO2):c.1980T>C (p.Asp660=)	ELMO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1234205	NM_133171.5(ELMO2):c.1884+54A>G	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227680	NM_133171.5(ELMO2):c.1884+35G>T	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225509	NM_133171.5(ELMO2):c.1279+208dup	ELMO2	Duplication (intron variant)	not provided	GBenign
Select item 1222840	NM_133171.5(ELMO2):c.1962+195del	ELMO2, LOC130065992	Deletion (intron variant)	not provided	GBenign
Select item 1183768	NM_133171.5(ELMO2):c.1885-95G>A	ELMO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993895	NM_133171.5(ELMO2):c.963G>A (p.Arg321=)	ELMO2	Single nucleotide variant (synonymous variant)	Primary intraosseous venous malformation +1 more	GBenign
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 797744	NM_133171.5(ELMO2):c.1066-6C>T	ELMO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773369	NM_133171.5(ELMO2):c.1134G>A (p.Leu378=)	ELMO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 749007	NM_133171.5(ELMO2):c.894A>G (p.Glu298=)	ELMO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748468	NM_133171.5(ELMO2):c.54C>T (p.Asn18=)	ELMO2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 747850	NM_133171.5(ELMO2):c.87C>G (p.Pro29=)	ELMO2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 742204	NM_133171.5(ELMO2):c.339C>T (p.Asp113=)	ELMO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687504	GRCh37/hg19 20q13.12(chr20:45002981-45243034)x3	ELMO2, OCSTAMP +3 more	Copy number gain	not provided	GUncertain significance
Select item 623355	NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter)	ELMO2 (R509* +1 more)	Single nucleotide variant (nonsense)	Primary intraosseous venous malformation	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 254193	NM_133171.5(ELMO2):c.2080del (p.Leu694fs)	ELMO2 (L606fs +1 more)	Deletion (frameshift variant)	Primary intraosseous venous malformation	GPathogenic
Select item 254192	NM_133171.5(ELMO2):c.1802-1G>C	ELMO2	Single nucleotide variant (splice acceptor variant)	Primary intraosseous venous malformation	GLikely pathogenic
Select item 254191	NM_133171.5(ELMO2):c.1065+1G>A	ELMO2	Single nucleotide variant (splice donor variant)	Primary intraosseous venous malformation	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69