ELMOD1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147281	GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	ACAT1, ALKBH8 +28 more	Copy number loss	See cases	GPathogenic
Select item 2247612	NM_018712.4(ELMOD1):c.20T>C (p.Met7Thr)	ELMOD1 (M7T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273644	NM_018712.4(ELMOD1):c.31G>C (p.Val11Leu)	ELMOD1 (V11L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642355	NM_018712.4(ELMOD1):c.54A>G (p.Lys18=)	ELMOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530485	NM_018712.4(ELMOD1):c.102A>T (p.Arg34Ser)	ELMOD1 (R34S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561328	NM_018712.4(ELMOD1):c.212G>A (p.Ser71Asn)	ELMOD1 (S65N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210380	NM_018712.4(ELMOD1):c.223G>A (p.Asp75Asn)	ELMOD1 (D75N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264601	NM_018712.4(ELMOD1):c.226G>A (p.Ala76Thr)	ELMOD1 (A76T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455968	NM_018712.4(ELMOD1):c.280G>A (p.Val94Ile)	ELMOD1 (V88I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2473095	NM_018712.4(ELMOD1):c.338G>C (p.Arg113Thr)	ELMOD1 (R113T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467494	NM_018712.4(ELMOD1):c.614C>T (p.Pro205Leu)	ELMOD1 (P199L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554056	NM_018712.4(ELMOD1):c.662C>T (p.Ala221Val)	ELMOD1 (A215V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320859	NM_018712.4(ELMOD1):c.748C>A (p.Leu250Ile)	ELMOD1 (L242I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231973	NM_018712.4(ELMOD1):c.785A>G (p.Asn262Ser)	ELMOD1 (N254S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 151258	GRCh38/hg38 11q22.3(chr11:107656034-107998014)x3	ELMOD1, LOC126861330 +10 more	Copy number gain	See cases	GLikely benign
Select item 2318339	NM_018712.4(ELMOD1):c.846T>G (p.His282Gln)	ELMOD1 (H276Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542418	NM_018712.4(ELMOD1):c.854A>G (p.His285Arg)	ELMOD1 (H277R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343751	NM_018712.4(ELMOD1):c.902G>A (p.Arg301His)	ELMOD1 (R295H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 442127	GRCh37/hg19 11q22.3(chr11:106767102-107561488)x3	ALKBH8, CWF19L2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 395420	GRCh37/hg19 11q22.3(chr11:107537206-107582654)x3	ELMOD1, SLN	Copy number gain	See cases	GBenign
Select item 394232	GRCh37/hg19 11q22.3(chr11:107537206-107925627)x3	CUL5, ELMOD1 +3 more	Copy number gain	See cases	GLikely benign
Select item 254019	GRCh37/hg19 11q22.3(chr11:106959465-107537265)x1	ELMOD1, CWF19L2 +1 more	Copy number loss	See cases	GUncertain significance

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Items: 38