C0392475[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 362726	NM_001017420.3(ESCO2):c.-68T>G	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 362727	NM_001017420.3(ESCO2):c.-44G>A	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362728	NM_001017420.3(ESCO2):c.-38C>G	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362729	NM_001017420.3(ESCO2):c.-33C>T	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362730	NM_001017420.3(ESCO2):c.-17+15A>T	ESCO2	Single nucleotide variant (intron variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 912046	NM_001017420.3(ESCO2):c.53+8T>G	ESCO2	Single nucleotide variant (intron variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 196298	NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	ESCO2 (C49W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 21240	NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)	ESCO2 (A80V)	Single nucleotide variant (missense variant)	Juberg-Hayward syndrome +3 more	GBenign
Select item 289689	NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val)	ESCO2 (I102V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 362731	NM_001017420.3(ESCO2):c.317G>A (p.Arg106Lys)	ESCO2 (R106K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 362732	NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)	ESCO2 (C109R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 362733	NM_001017420.3(ESCO2):c.447A>G (p.Gln149=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257054	NM_001017420.3(ESCO2):c.510G>A (p.Val170=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 287532	NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp)	ESCO2 (R193W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 362734	NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln)	ESCO2 (R193Q)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 909140	NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile)	ESCO2 (K221I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 909141	NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala)	ESCO2 (T233A)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 763396	NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)	ESCO2 (T248A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 196300	NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)	ESCO2 (F255S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 362735	NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly)	ESCO2 (S279G)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 755659	NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)	ESCO2	Single nucleotide variant (synonymous variant)	Roberts-SC phocomelia syndrome +2 more	GBenign/Likely benign
Select item 362736	NM_001017420.3(ESCO2):c.915G>A (p.Glu305=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593536	NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)	ESCO2 (E310V)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 799712	NM_001017420.3(ESCO2):c.955+10A>G	ESCO2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909987	NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser)	ESCO2 (N335S)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +1 more	GUncertain significance
Select item 362737	NM_001017420.3(ESCO2):c.1013+7A>G	ESCO2	Single nucleotide variant (intron variant)	Roberts-SC phocomelia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 198112	NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)	ESCO2 (Q344P)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +2 more	GUncertain significance
Select item 362738	NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)	ESCO2 (Q359P)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 281401	NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys)	ESCO2 (R365K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 362740	NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu)	ESCO2 (K369E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 362739	NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del)	ESCO2 (K370del)	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GUncertain significance
Select item 362741	NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr)	ESCO2 (K498T)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +1 more	GUncertain significance
Select item 362742	NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val)	ESCO2 (I508V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 362743	NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 362744	NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)	ESCO2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 362745	NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)	ESCO2 (P579T)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 362746	NM_001017420.3(ESCO2):c.*34G>A	ESCO2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 910875	NM_001017420.3(ESCO2):c.*50T>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362747	NM_001017420.3(ESCO2):c.73_76del	ESCO2	Deletion (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362748	NM_001017420.3(ESCO2):c.76_79dup	ESCO2	Duplication (3 prime UTR variant)	Roberts-SC phocomelia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 362749	NM_001017420.3(ESCO2):c.*80del	ESCO2	Deletion (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 910876	NM_001017420.3(ESCO2):c.*96C>T	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GLikely benign
Select item 362753	NM_001017420.3(ESCO2):c.*112AC[14]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362752	NM_001017420.3(ESCO2):c.*112AC[12]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 362751	NM_001017420.3(ESCO2):c.*112AC[11]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 362750	NM_001017420.3(ESCO2):c.*112AC[10]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 362755	NM_001017420.3(ESCO2):c.*112AC[6]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362754	NM_001017420.3(ESCO2):c.*112AC[7]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362757	NM_001017420.3(ESCO2):c.*130G>A	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome +1 more	GBenign
Select item 362756	NM_001017420.3(ESCO2):c.*130delinsACACACACACA	ESCO2	Indel (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362758	NM_001017420.3(ESCO2):c.*141T>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362759	NM_001017420.3(ESCO2):c.*155T>G	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362760	NM_001017420.3(ESCO2):c.*172G>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362761	NM_001017420.3(ESCO2):c.*222T>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362762	NM_001017420.3(ESCO2):c.*261T>A	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 912099	NM_001017420.3(ESCO2):c.*266C>T	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 912100	NM_001017420.3(ESCO2):c.*299T>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 362763	NM_001017420.3(ESCO2):c.*363C>A	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 908092	NM_001017420.3(ESCO2):c.*397A>G	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GLikely benign
Select item 362764	NM_001017420.3(ESCO2):c.*425G>A	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 362765	NM_001017420.3(ESCO2):c.*481dup	ESCO2	Duplication (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362766	NM_001017420.3(ESCO2):c.*481del	ESCO2	Deletion (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 362767	NM_001017420.3(ESCO2):c.*471T>A	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 908093	NM_001017420.3(ESCO2):c.*491A>G	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GBenign
Select item 362768	NM_001017420.3(ESCO2):c.*503GT[1]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362769	NM_001017420.3(ESCO2):c.*534C>T	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 908094	NM_001017420.3(ESCO2):c.*538A>G	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 908095	NM_001017420.3(ESCO2):c.*697G>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 910045	NM_001017420.3(ESCO2):c.*770A>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 910046	NM_001017420.3(ESCO2):c.*915A>G	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362770	NM_001017420.3(ESCO2):c.*982T>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 910047	NM_001017420.3(ESCO2):c.*1397T>A	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72