ClinVar for MedGen (Select 95931) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502309	NM_001017420.3(ESCO2):c.416_430dup (p.Leu144Ter)	ESCO2 (L144*)	Duplication (nonsense)	Roberts-SC phocomelia syndrome	GPathogenic
Select item 2062725	NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs)	ESCO2 (K282fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1696827	NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr)	ESCO2 (C389Y)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome	GLikely pathogenic
Select item 1332853	NM_001017420.3(ESCO2):c.1673+1G>A	ESCO2	Single nucleotide variant (splice donor variant)	Roberts-SC phocomelia syndrome	GPathogenic
Select item 1032541	NM_001017420.3(ESCO2):c.861+1G>A	ESCO2	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028944	NM_001017420.3(ESCO2):c.862-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	Roberts-SC phocomelia syndrome	GLikely pathogenic
Select item 991271	NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991270	NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln)	ESCO2 (K303Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 991269	NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile)	ESCO2 (T254I)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome	GLikely benign
Select item 991268	NM_001017420.3(ESCO2):c.423G>C (p.Gln141His)	ESCO2 (Q141H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991267	NM_001017420.3(ESCO2):c.402G>A (p.Lys134=)	ESCO2	Single nucleotide variant (synonymous 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 912099	NM_001017420.3(ESCO2):c.*266C>T	ESCO2	Single nucleotide variant (3 prime UTR 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 910876	NM_001017420.3(ESCO2):c.*96C>T	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GLikely 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 910047	NM_001017420.3(ESCO2):c.*1397T>A	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 910045	NM_001017420.3(ESCO2):c.*770A>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
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 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 909140	NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile)	ESCO2 (K221I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 908094	NM_001017420.3(ESCO2):c.*538A>G	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
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 908092	NM_001017420.3(ESCO2):c.*397A>G	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GLikely benign
Select item 804409	NM_001017420.3(ESCO2):c.956-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	Roberts-SC phocomelia syndrome	GLikely pathogenic
Select item 800869	NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)	ESCO2 (N39fs)	Duplication (frameshift variant)	Roberts-SC phocomelia syndrome	GLikely pathogenic
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 796174	NM_001017420.3(ESCO2):c.955+7_955+8del	ESCO2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 790050	NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val)	ESCO2 (L274V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 763396	NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)	ESCO2 (T248A)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +2 more	GConflicting classifications of pathogenicity
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 751650	NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593536	NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)	ESCO2 (E310V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 362769	NM_001017420.3(ESCO2):c.*534C>T	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
Select item 362768	NM_001017420.3(ESCO2):c.*503GT[1]	ESCO2	Microsatellite (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
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 362766	NM_001017420.3(ESCO2):c.*481del	ESCO2	Deletion (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 362764	NM_001017420.3(ESCO2):c.*425G>A	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 362762	NM_001017420.3(ESCO2):c.*261T>A	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 362760	NM_001017420.3(ESCO2):c.*172G>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
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 362758	NM_001017420.3(ESCO2):c.*141T>C	ESCO2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 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 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 362749	NM_001017420.3(ESCO2):c.*80del	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 362747	NM_001017420.3(ESCO2):c.73_76del	ESCO2	Deletion (3 prime UTR variant)	Roberts-SC phocomelia syndrome	GUncertain significance
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 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 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 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 362742	NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val)	ESCO2 (I508V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 362740	NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu)	ESCO2 (K369E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 362739	NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del)	ESCO2 (K370del)	Deletion (inframe_deletion)	not provided +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 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 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 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 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 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 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 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 362730	NM_001017420.3(ESCO2):c.-17+15A>T	ESCO2	Single nucleotide variant (intron 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 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 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 362726	NM_001017420.3(ESCO2):c.-68T>G	ESCO2, LOC130000093	Single nucleotide variant (5 prime UTR variant)	Roberts-SC phocomelia syndrome	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 287532	NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp)	ESCO2 (R193W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 257054	NM_001017420.3(ESCO2):c.510G>A (p.Val170=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 257053	NM_001017420.3(ESCO2):c.1013+35G>A	ESCO2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 210962	NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)	ESCO2 (N304fs)	Duplication (frameshift variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic
Select item 210961	NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)	ESCO2 (E298fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 198112	NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)	ESCO2 (Q344P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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 158575	NM_001017420.3(ESCO2):c.648A>G (p.Lys216=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158574	NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)	ESCO2 (G128E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158573	NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)	ESCO2 (C392Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158572	NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 21252	NM_001017420.3(ESCO2):c.955+2_955+5del	ESCO2	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21251	NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)	ESCO2 (R293fs)	Microsatellite (frameshift variant)	Juberg-Hayward syndrome +2 more	GPathogenic
Select item 21250	NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)	ESCO2 (D292fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 21249	NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)	ESCO2 (F255fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 21247	NM_001017420.3(ESCO2):c.760del (p.Thr254fs)	ESCO2 (T254fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 21246	NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)	ESCO2 (V249fs)	Deletion (frameshift variant)	not provided	GPathogenic

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