"GeneDx"[submitter] AND "ELMOD3"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151420	GRCh38/hg38 2p11.2(chr2:85179123-85369264)x3	ELMOD3, LOC102724579 +11 more	Copy number gain	See cases	GUncertain significance
Select item 1318219	NM_001135022.2(ELMOD3):c.-232-217G>A	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316699	NM_001135022.2(ELMOD3):c.-232-72dup	ELMOD3	Duplication (intron variant)	not provided	GLikely benign
Select item 1262264	NM_001135022.2(ELMOD3):c.-232-73_-232-72dup	ELMOD3	Duplication (intron variant)	not provided	GBenign
Select item 1316665	NM_001135022.2(ELMOD3):c.-232-72del	ELMOD3	Deletion (intron variant)	not provided	GLikely benign
Select item 1317741	NM_001135022.2(ELMOD3):c.129+129T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268939	NM_001135022.2(ELMOD3):c.130-185C>T	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316227	NM_001135022.2(ELMOD3):c.130-21A>G	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317524	NM_001135022.2(ELMOD3):c.132C>T (p.Ile44=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 508136	NM_001135022.2(ELMOD3):c.196C>T (p.Arg66Cys)	ELMOD3 (R66C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1253497	NM_001135022.2(ELMOD3):c.200-32T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508116	NM_001135022.2(ELMOD3):c.209C>T (p.Thr70Ile)	ELMOD3 (T70I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1221210	NM_001135022.2(ELMOD3):c.268+44G>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232583	NM_001135022.2(ELMOD3):c.268+53C>T	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274596	NM_001135022.2(ELMOD3):c.268+166G>A	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316524	NM_001135022.2(ELMOD3):c.268+214A>G	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317151	NM_001135022.2(ELMOD3):c.269-277G>A	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248057	NM_001135022.2(ELMOD3):c.269-123A>G	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317783	NM_001135022.2(ELMOD3):c.269-13C>T	ELMOD3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 683014	NM_001135022.2(ELMOD3):c.269-9T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 508580	NM_001135022.2(ELMOD3):c.313A>G (p.Ser105Gly)	ELMOD3 (S105G)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1316814	NM_001135022.2(ELMOD3):c.338C>A (p.Thr113Asn)	ELMOD3 (T113N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1270935	NM_001135022.2(ELMOD3):c.360+194C>T	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230098	NM_001135022.2(ELMOD3):c.361-153T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268898	NM_001135022.2(ELMOD3):c.397G>A (p.Ala133Thr)	ELMOD3 (A133T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1317998	NM_001135022.2(ELMOD3):c.423G>A (p.Gly141=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1316433	NM_001135022.2(ELMOD3):c.484+57T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315827	NM_001135022.2(ELMOD3):c.484+110_484+112del	ELMOD3	Deletion (intron variant)	not provided	GLikely benign
Select item 1318380	NM_001135022.2(ELMOD3):c.484+110C>T	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179500	NM_001135022.2(ELMOD3):c.484+111G>A	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509057	NM_001135022.2(ELMOD3):c.549C>T (p.Thr183=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 770506	NM_001135022.2(ELMOD3):c.562G>A (p.Asp188Asn)	ELMOD3 (D188N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1273185	NM_001135022.2(ELMOD3):c.607+198G>A	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316861	NM_001135022.2(ELMOD3):c.608-37G>A	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318244	NM_001135022.2(ELMOD3):c.612G>C (p.Ala204=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1316210	NM_001135022.2(ELMOD3):c.696G>A (p.Pro232=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 500138	NM_001135022.2(ELMOD3):c.706G>A (p.Glu236Lys)	ELMOD3 (E236K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1279477	NM_001135022.2(ELMOD3):c.738+241T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274437	NM_001135022.2(ELMOD3):c.739-116T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282139	NM_001135022.2(ELMOD3):c.815+12A>G	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289746	NM_001135022.2(ELMOD3):c.815+108C>T	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318426	NM_001135022.2(ELMOD3):c.816-72G>A	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508569	NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr)	ELMOD3 (A289T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 508141	NM_001135022.2(ELMOD3):c.882C>T (p.His294=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 514499	NM_001135022.2(ELMOD3):c.943+152C>T	ELMOD3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 509121	NM_001135022.2(ELMOD3):c.943+152C>G	ELMOD3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 508142	NM_001135022.2(ELMOD3):c.943+191C>T	ELMOD3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1286447	NM_001135022.2(ELMOD3):c.944-212T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318133	NM_001135022.2(ELMOD3):c.944-6T>C	ELMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293726	NM_001135022.2(ELMOD3):c.974G>T (p.Arg325Leu)	ELMOD3 (R325L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 787770	NM_001135022.2(ELMOD3):c.1029C>A (p.Ala343=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1317304	NM_001135022.2(ELMOD3):c.1068C>G (p.Ala356=)	ELMOD3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1318149	NM_001135022.2(ELMOD3):c.1082A>T (p.Asp361Val)	ELMOD3 (D361V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1318159	NM_001135022.2(ELMOD3):c.1126G>A (p.Glu376Lys)	ELMOD3 (E376K)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1318222	NM_001135022.2(ELMOD3):c.*50G>A	ELMOD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1279071	NM_001135022.2(ELMOD3):c.*59G>T	ELMOD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1274756	NM_001135022.2(ELMOD3):c.*86G>A	ELMOD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1282218	NM_001135022.2(ELMOD3):c.*202G>A	ELMOD3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 58