157570[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
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 516218	NM_001017420.3(ESCO2):c.-17+19C>T	ESCO2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1278193	NM_001017420.3(ESCO2):c.-16-187C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254162	NM_001017420.3(ESCO2):c.-16-149T>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2831235	NM_001017420.3(ESCO2):c.15T>A (p.Thr5=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1123078	NM_001017420.3(ESCO2):c.18A>G (p.Pro6=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875537	NM_001017420.3(ESCO2):c.21del (p.Lys8fs)	ESCO2 (K8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2798216	NM_001017420.3(ESCO2):c.21G>A (p.Arg7=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165401	NM_001017420.3(ESCO2):c.23A>C (p.Lys8Thr)	ESCO2 (K8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634921	NM_001017420.3(ESCO2):c.26G>A (p.Arg9Lys)	ESCO2 (R9K)	Single nucleotide variant (missense variant)	ESCO2-related disorder +1 more	GUncertain significance
Select item 1969115	NM_001017420.3(ESCO2):c.27G>A (p.Arg9=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162180	NM_001017420.3(ESCO2):c.30G>A (p.Lys10=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178491	NM_001017420.3(ESCO2):c.38C>A (p.Ser13Tyr)	ESCO2 (S13Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034121	NM_001017420.3(ESCO2):c.41T>A (p.Leu14Ter)	ESCO2 (L14*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2065639	NM_001017420.3(ESCO2):c.50A>G (p.Asp17Gly)	ESCO2 (D17G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1670098	NM_001017420.3(ESCO2):c.51C>T (p.Asp17=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1998580	NM_001017420.3(ESCO2):c.53+9C>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971677	NM_001017420.3(ESCO2):c.53+9C>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742592	NM_001017420.3(ESCO2):c.53+20T>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174377	NM_001017420.3(ESCO2):c.53+153G>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225059	NM_001017420.3(ESCO2):c.53+304C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200767	NM_001017420.3(ESCO2):c.54-51T>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746146	NM_001017420.3(ESCO2):c.54-18C>T	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3057323	NM_001017420.3(ESCO2):c.54-14_54-11del	ESCO2	Deletion (intron variant)	ESCO2-related disorder	GLikely benign
Select item 3000124	NM_001017420.3(ESCO2):c.54-16_54-15del	ESCO2	Deletion (intron variant)	not provided	GLikely benign
Select item 2807330	NM_001017420.3(ESCO2):c.54-16T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735960	NM_001017420.3(ESCO2):c.54-14G>A	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982427	NM_001017420.3(ESCO2):c.54-10_54-9del	ESCO2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1103978	NM_001017420.3(ESCO2):c.54-6T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529357	NM_001017420.3(ESCO2):c.54-5T>C	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672499	NM_001017420.3(ESCO2):c.54-4A>G	ESCO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099818	NM_001017420.3(ESCO2):c.54-1G>A	ESCO2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1509399	NM_001017420.3(ESCO2):c.54-1_59del	ESCO2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1376665	NM_001017420.3(ESCO2):c.76_77del (p.Leu26fs)	ESCO2 (L26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1154216	NM_001017420.3(ESCO2):c.76C>T (p.Leu26=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870088	NM_001017420.3(ESCO2):c.81T>C (p.Phe27=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533248	NM_001017420.3(ESCO2):c.84A>T (p.Pro28=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031773	NM_001017420.3(ESCO2):c.87A>T (p.Ser29=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613811	NM_001017420.3(ESCO2):c.87A>G (p.Ser29=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281636	NM_001017420.3(ESCO2):c.91A>G (p.Asn31Asp)	ESCO2 (N31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533930	NM_001017420.3(ESCO2):c.102C>T (p.His34=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1373535	NM_001017420.3(ESCO2):c.102_103del (p.His34fs)	ESCO2 (H34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1979691	NM_001017420.3(ESCO2):c.107T>G (p.Phe36Cys)	ESCO2 (F36C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800869	NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)	ESCO2 (N39fs)	Duplication (frameshift variant)	Roberts-SC phocomelia syndrome	GLikely pathogenic
Select item 2834329	NM_001017420.3(ESCO2):c.116del (p.Asn39fs)	ESCO2 (N39fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3015828	NM_001017420.3(ESCO2):c.118_119del (p.Asn39_Ser40insTer)	ESCO2	Deletion (nonsense)	not provided	GPathogenic
Select item 2842921	NM_001017420.3(ESCO2):c.123T>C (p.Asp41=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747751	NM_001017420.3(ESCO2):c.124_125insTTTCTTCA (p.Lys42fs)	ESCO2 (K42fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1073674	NM_001017420.3(ESCO2):c.133_143del (p.Glu45fs)	ESCO2 (E45fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2753399	NM_001017420.3(ESCO2):c.135A>G (p.Glu45=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133948	NM_001017420.3(ESCO2):c.138C>T (p.Asn46=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099506	NM_001017420.3(ESCO2):c.141G>T (p.Leu47=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888315	NM_001017420.3(ESCO2):c.144T>C (p.His48=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768259	NM_001017420.3(ESCO2):c.147C>T (p.Cys49=)	ESCO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196298	NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)	ESCO2 (C49W)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +2 more	GBenign/Likely benign

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