ODF2L[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 2327197	NM_001366781.1(ODF2L):c.1862C>T (p.Ser621Leu)	ODF2L (S529L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254190	NM_001366781.1(ODF2L):c.1847A>G (p.Asn616Ser)	ODF2L (N485S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527225	NM_001366781.1(ODF2L):c.1806+664C>T	ODF2L (P423L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351611	NM_001366781.1(ODF2L):c.1798A>G (p.Met600Val)	ODF2L (M416V +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302180	NM_001366781.1(ODF2L):c.1789G>T (p.Val597Phe)	ODF2L (V413F +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204054	NM_001366781.1(ODF2L):c.1738T>A (p.Leu580Ile)	ODF2L (L386I +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343458	NM_001366781.1(ODF2L):c.1711A>G (p.Arg571Gly)	ODF2L (R571G +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302183	NM_001366781.1(ODF2L):c.1679A>C (p.Lys560Thr)	ODF2L (K376T +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342740	NM_001366781.1(ODF2L):c.1475A>G (p.Glu492Gly)	ODF2L (E308G +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552643	NM_001366781.1(ODF2L):c.1396G>A (p.Asp466Asn)	ODF2L (D335N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204052	NM_001366781.1(ODF2L):c.1352A>C (p.His451Pro)	ODF2L (H451P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788940	NM_001366781.1(ODF2L):c.1332G>A (p.Thr444=)	ODF2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 728845	NM_001366781.1(ODF2L):c.1313G>A (p.Arg438His)	ODF2L (R438H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2407785	NM_001366781.1(ODF2L):c.1290G>T (p.Glu430Asp)	ODF2L (E260D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791082	NM_001366781.1(ODF2L):c.1246A>G (p.Lys416Glu)	ODF2L (K416E +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2482958	NM_001366781.1(ODF2L):c.1179G>T (p.Leu393Phe)	ODF2L (L422F +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302184	NM_001366781.1(ODF2L):c.1165C>G (p.Gln389Glu)	ODF2L (Q231E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462730	NM_001366781.1(ODF2L):c.1142C>A (p.Thr381Asn)	ODF2L (T279N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302179	NM_001366781.1(ODF2L):c.1134A>T (p.Lys378Asn)	ODF2L (K208N +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204051	NM_001366781.1(ODF2L):c.1127A>G (p.Glu376Gly)	ODF2L (E235G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302181	NM_001366781.1(ODF2L):c.1082A>G (p.Glu361Gly)	ODF2L (E191G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230277	NM_001366781.1(ODF2L):c.1045A>G (p.Thr349Ala)	ODF2L (T191A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204050	NM_001366781.1(ODF2L):c.1036C>G (p.Leu346Val)	ODF2L (L307V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262946	NM_001366781.1(ODF2L):c.1027A>G (p.Thr343Ala)	ODF2L (T304A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204060	NM_001366781.1(ODF2L):c.980G>T (p.Cys327Phe)	ODF2L (C157F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332679	NM_001366781.1(ODF2L):c.980G>A (p.Cys327Tyr)	ODF2L (C157Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204059	NM_001366781.1(ODF2L):c.949A>G (p.Lys317Glu)	ODF2L (K186E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263325	NM_001366781.1(ODF2L):c.928A>G (p.Ile310Val)	ODF2L (I179V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204058	NM_001366781.1(ODF2L):c.914T>C (p.Met305Thr)	ODF2L (M147T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735673	NM_001366781.1(ODF2L):c.882A>T (p.Glu294Asp)	ODF2L (E163D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2374520	NM_001366781.1(ODF2L):c.857G>A (p.Ser286Asn)	ODF2L (S155N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461775	NM_001366781.1(ODF2L):c.845A>G (p.Asn282Ser)	ODF2L (N112S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313249	NM_001366781.1(ODF2L):c.821T>G (p.Leu274Trp)	ODF2L (L116W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204057	NM_001366781.1(ODF2L):c.813A>T (p.Glu271Asp)	ODF2L (E101D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204056	NM_001366781.1(ODF2L):c.812A>T (p.Glu271Val)	ODF2L (E140V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466789	NM_001366781.1(ODF2L):c.806A>G (p.Asp269Gly)	ODF2L (D138G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558911	NM_001366781.1(ODF2L):c.739A>C (p.Lys247Gln)	ODF2L (K116Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292964	NM_001366781.1(ODF2L):c.685A>G (p.Ile229Val)	ODF2L (I190V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589588	NM_001366781.1(ODF2L):c.677A>G (p.Asn226Ser)	ODF2L (N226S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523170	NM_001366781.1(ODF2L):c.595G>A (p.Glu199Lys)	ODF2L (E199K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289139	NM_001366781.1(ODF2L):c.575A>G (p.Gln192Arg)	ODF2L (Q192R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204055	NM_001366781.1(ODF2L):c.529C>T (p.Arg177Cys)	ODF2L (R46C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302182	NM_001366781.1(ODF2L):c.353G>A (p.Arg118Lys)	ODF2L (R118K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2231552	NM_001366781.1(ODF2L):c.251A>G (p.Asn84Ser)	ODF2L (N84S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591924	NM_001366781.1(ODF2L):c.74A>G (p.Glu25Gly)	ODF2L (E25G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	IFI44L, LHX8 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807925	GRCh37/hg19 1p22.3(chr1:85878203-86849716)x1	CCN1, COL24A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 979892	GRCh37/hg19 1p22.3(chr1:86714345-86906191)x1	ODF2L, CLCA2	Copy number loss	not provided	GUncertain significance
Select item 979890	GRCh37/hg19 1p22.3(chr1:86702066-86902902)x3	ODF2L, CLCA2	Copy number gain	not provided	GUncertain significance
Select item 979888	GRCh37/hg19 1p22.3(chr1:86441405-86925675)x3	ODF2L, CLCA2 +1 more	Copy number gain	not provided	GLikely benign
Select item 685649	GRCh37/hg19 1p22.3(chr1:86235427-86827633)x1	COL24A1, ODF2L	Copy number loss	not provided	GUncertain significance
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 62