668[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance
Select item 155613	GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3	CEP70, ESYT3 +19 more	Copy number gain	See cases	GLikely benign
Select item 148956	GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3	CEP70, FAIM +22 more	Copy number gain	See cases	GUncertain significance
Select item 148711	GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3	BPESC1, CEP70 +23 more	Copy number gain	See cases	GUncertain significance
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 1228805	NM_023067.4(FOXL2):c.*925dup	FOXL2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1685141	NM_023067.4(FOXL2):c.*619C>A	FOXL2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 3045061	NM_023067.4(FOXL2):c.*614C>T	FOXL2	Single nucleotide variant (3 prime UTR variant)	FOXL2-related disorder	GLikely benign
Select item 57833	GRCh38/hg38 3q22.3(chr3:138945182-138946841)x1	FOXL2	Copy number loss	See cases	GPathogenic
Select item 1701464	NM_023067.4(FOXL2):c.673_*315inv (p.Ala225_Leu376delinsTrpAlaGlyAspAlaGlyAlaProGluArgAspGluProSerArgLysArgAlaGluArgGlnLeuGlnAlaArgGlyValGlnGlyHisArgGlyGlnGlyGlyGluHisArgArgThr)	FOXL2	Inversion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2631816	NM_023067.4(FOXL2):c.1115C>T (p.Ser372Leu)	FOXL2 (S372L)	Single nucleotide variant (missense variant)	FOXL2-related disorder	GUncertain significance
Select item 634965	NM_023067.4(FOXL2):c.1103del (p.Gly368fs)	FOXL2 (G368fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2890002	NM_023067.4(FOXL2):c.1101C>A (p.Thr367=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 435242	NM_023067.4(FOXL2):c.1071T>C (p.His357=)	FOXL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2624406	NM_023067.4(FOXL2):c.1067T>C (p.Met356Thr)	FOXL2 (M356T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188545	NM_023067.4(FOXL2):c.1053C>T (p.Pro351=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134454	NM_023067.4(FOXL2):c.1045C>G (p.Arg349Gly)	FOXL2 (R349G)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2709291	NM_023067.4(FOXL2):c.1018_1021dup (p.Pro341fs)	FOXL2 (P341fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 369938	NM_023067.4(FOXL2):c.1011del (p.Thr338fs)	FOXL2 (T338fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634964	NM_023067.4(FOXL2):c.998dup (p.Ala334fs)	FOXL2 (A334fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634984	NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs)	FOXL2 (H312fs)	Indel (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3096484	NM_023067.4(FOXL2):c.995C>T (p.Pro332Leu)	FOXL2 (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361547	NM_023067.4(FOXL2):c.994C>G (p.Pro332Ala)	FOXL2 (P332A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 503493	NM_023067.4(FOXL2):c.988dup (p.Ala330fs)	FOXL2 (A330fs)	Duplication (frameshift variant)	Premature ovarian failure 3	GPathogenic
Select item 162044	NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs)	FOXL2 (T329fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369937	NM_023067.4(FOXL2):c.982del (p.Ala328fs)	FOXL2 (A328fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3096483	NM_023067.4(FOXL2):c.974C>G (p.Ala325Gly)	FOXL2 (A325G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 369936	NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs)	FOXL2 (Q321fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 4867	NM_023067.4(FOXL2):c.959dup (p.Gln321fs)	FOXL2 (Q321fs)	Duplication (frameshift variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	GPathogenic
Select item 634987	NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)	FOXL2 (P317fs)	Microsatellite (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3061823	NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)	FOXL2 (P318Q)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 634986	NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs)	FOXL2 (A316fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2654193	NM_023067.4(FOXL2):c.942C>T (p.Ala314=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257521	NM_023067.4(FOXL2):c.937G>A (p.Gly313Arg)	FOXL2 (G313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527881	NM_023067.4(FOXL2):c.934C>A (p.His312Asn)	FOXL2 (H312N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572197	NM_023067.4(FOXL2):c.927del (p.Pro310fs)	FOXL2 (P310fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369935	NM_023067.4(FOXL2):c.907_926dup (p.His312fs)	FOXL2 (H312fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3384077	NM_023067.4(FOXL2):c.926del (p.Pro309fs)	FOXL2 (P309fs)	Deletion (frameshift variant)	Blepharophimosis	GPathogenic
Select item 4856	NM_023067.4(FOXL2):c.912_919dup (p.Pro307fs)	FOXL2 (P307fs)	Duplication (frameshift variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	GPathogenic
Select item 634985	NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs)	FOXL2 (P305fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2049060	NM_023067.4(FOXL2):c.909del (p.Ala304fs)	FOXL2 (A304fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2351533	NM_023067.4(FOXL2):c.908C>G (p.Ala303Gly)	FOXL2 (A303G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049065	NM_023067.4(FOXL2):c.908C>T (p.Ala303Val)	FOXL2 (A303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 369934	NM_023067.4(FOXL2):c.892dup (p.His298fs)	FOXL2 (H298fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2748834	NM_023067.4(FOXL2):c.881del (p.Pro294fs)	FOXL2 (P294fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1256027	NM_023067.4(FOXL2):c.871dup (p.His291fs)	FOXL2 (H291fs)	Duplication (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 4866	NM_023067.4(FOXL2):c.855_871dup (p.His291fs)	FOXL2 (H291fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1709921	NM_023067.4(FOXL2):c.871del (p.His291fs)	FOXL2 (H291fs)	Deletion (frameshift variant)	Premature ovarian failure 3	GPathogenic
Select item 369932	NM_023067.4(FOXL2):c.840_871del (p.Ala283fs)	FOXL2 (A283fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 4859	NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)	FOXL2 (P287fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GPathogenic
Select item 3516816	NM_023067.4(FOXL2):c.868C>A (p.Pro290Thr)	FOXL2 (P290T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 180599	NM_023067.4(FOXL2):c.843_865dup (p.His289fs)	FOXL2 (H289fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Gnot provided
Select item 2203450	NM_023067.4(FOXL2):c.860del (p.Pro287fs)	FOXL2 (P287fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 162045	NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)	FOXL2 (P287fs)	Duplication (frameshift variant)	FOXL2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2170714	NM_023067.4(FOXL2):c.858T>G (p.Pro286=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 180598	NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs)	FOXL2 (P287fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369933	NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs)	FOXL2 (P286fs)	Indel (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 180600	NM_023067.4(FOXL2):c.854del (p.Pro285fs)	FOXL2 (P285fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2715439	NM_023067.4(FOXL2):c.840_850dup (p.Pro284fs)	FOXL2 (P284fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3516814	NM_023067.4(FOXL2):c.842C>T (p.Pro281Leu)	FOXL2 (P281L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 634983	NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs)	FOXL2 (P281fs)	Insertion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3068252	NM_023067.4(FOXL2):c.841C>A (p.Pro281Thr)	FOXL2 (P281T)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 2740608	NM_023067.4(FOXL2):c.839C>G (p.Pro280Arg)	FOXL2 (P280R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541757	NM_023067.4(FOXL2):c.830T>C (p.Leu277Pro)	FOXL2 (L277P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 369931	NM_023067.4(FOXL2):c.827dup (p.Leu277fs)	FOXL2 (L277fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 4861	NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter)	FOXL2 (Y274*)	Single nucleotide variant (nonsense)	Premature ovarian failure 3 +1 more	GPathogenic
Select item 261663	NM_023067.4(FOXL2):c.819G>C (p.Ser273=)	FOXL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 634982	NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter)	FOXL2 (S273*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2255427	NM_023067.4(FOXL2):c.808G>T (p.Val270Leu)	FOXL2 (V270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255844	NM_023067.4(FOXL2):c.805G>A (p.Gly269Ser)	FOXL2 (G269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4858	NM_023067.4(FOXL2):c.804dup (p.Gly269fs)	FOXL2 (G269fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +3 more	GPathogenic
Select item 369930	NM_023067.4(FOXL2):c.804del (p.Gly269fs)	FOXL2 (G269fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3516815	NM_023067.4(FOXL2):c.799C>G (p.Pro267Ala)	FOXL2 (P267A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 369929	NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr)	FOXL2 (P267T)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely benign
Select item 2063495	NM_023067.4(FOXL2):c.791T>C (p.Met264Thr)	FOXL2 (M264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255995	NM_023067.4(FOXL2):c.789C>A (p.Ser263Arg)	FOXL2 (S263R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 634981	NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter)	FOXL2 (Q262*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 1687548	NM_023067.4(FOXL2):c.775_778del (p.Thr259fs)	FOXL2 (T259fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 369928	NM_023067.4(FOXL2):c.777dup (p.Arg260fs)	FOXL2 (R260fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634980	NM_023067.4(FOXL2):c.773del (p.Tyr258fs)	FOXL2 (Y258fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 4869	NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn)	FOXL2 (Y258N)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 2113869	NM_023067.4(FOXL2):c.770C>G (p.Pro257Arg)	FOXL2 (P257R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 634978	NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs)	FOXL2 (P257fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 1705491	NM_023067.4(FOXL2):c.768dup (p.Pro257fs)	FOXL2 (P257fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2151980	NM_023067.4(FOXL2):c.768del (p.Pro257fs)	FOXL2 (P257fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1955748	NM_023067.4(FOXL2):c.762G>A (p.Ser254=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2780030	NM_023067.4(FOXL2):c.761C>A (p.Ser254Ter)	FOXL2 (S254*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2203451	NM_023067.4(FOXL2):c.752_759del (p.Pro251fs)	FOXL2 (P251fs)	Deletion (frameshift variant)	not provided	GPathogenic

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