2130[geneid] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	See cases	GPathogenic
Select item 3037416	NM_005243.4(EWSR1):c.-3A>G	EWSR1	Single nucleotide variant (5 prime UTR variant)	EWSR1-related condition	GLikely benign
Select item 3040215	NM_005243.4(EWSR1):c.12G>A (p.Thr4=)	EWSR1	Single nucleotide variant (synonymous variant)	EWSR1-related condition	GLikely benign
Select item 1246240	NM_005243.4(EWSR1):c.13+85G>A	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220856	NM_005243.4(EWSR1):c.14-201C>T	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 796641	NM_005243.4(EWSR1):c.14-7C>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2334412	NM_005243.4(EWSR1):c.55A>G (p.Ser19Gly)	EWSR1 (S19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270867	NM_005243.4(EWSR1):c.103-82G>C	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276860	NM_005243.4(EWSR1):c.103-37T>C	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249698	NM_005243.4(EWSR1):c.103-18C>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090930	NM_005243.4(EWSR1):c.140C>A (p.Pro47His)	EWSR1 (P47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289055	NM_005243.4(EWSR1):c.202A>G (p.Thr68Ala)	EWSR1 (T68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653041	NM_005243.4(EWSR1):c.210T>C (p.Tyr70=)	EWSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3090934	NM_005243.4(EWSR1):c.226+406G>A	EWSR1 (G78R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745928	NM_005243.4(EWSR1):c.228T>A (p.Gly76=)	EWSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025886	NM_005243.4(EWSR1):c.238C>A (p.Pro80Thr)	EWSR1 (P80T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2400055	NM_005243.4(EWSR1):c.244G>A (p.Ala82Thr)	EWSR1 (A82T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228234	NM_005243.4(EWSR1):c.400A>G (p.Thr134Ala)	EWSR1 (T134A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	RASL10A, RFPL1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3090935	NM_005243.4(EWSR1):c.512G>C (p.Ser171Thr)	EWSR1 (S171T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1248405	NM_005243.4(EWSR1):c.582-211A>T	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773619	NM_005243.4(EWSR1):c.582-9C>G	EWSR1	Single nucleotide variant (intron variant)	Ewing sarcoma +1 more	GBenign
Select item 724658	NM_005243.4(EWSR1):c.600G>A (p.Pro200=)	EWSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604237	NM_005243.4(EWSR1):c.715A>G (p.Ser239Gly)	EWSR1 (S245G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048607	NM_005243.4(EWSR1):c.768A>G (p.Gln256=)	EWSR1	Single nucleotide variant (synonymous variant)	EWSR1-related condition	GBenign
Select item 2204064	NM_005243.4(EWSR1):c.983G>C (p.Gly328Ala)	EWSR1 (G328A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540556	NM_005243.4(EWSR1):c.1018A>G (p.Met340Val)	EWSR1 (M345V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653042	NM_005243.4(EWSR1):c.1046-17C>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3090928	NM_005243.4(EWSR1):c.1078A>G (p.Asn360Asp)	EWSR1 (N365D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090929	NM_005243.4(EWSR1):c.1082G>A (p.Ser361Asn)	EWSR1 (S361N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258038	NM_005243.4(EWSR1):c.1118C>A (p.Thr373Asn)	EWSR1 (T317N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280213	NM_005243.4(EWSR1):c.1164+37T>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242769	NM_005243.4(EWSR1):c.1164+174_1164+175del	EWSR1	Deletion (intron variant)	not provided	GBenign
Select item 1178937	NM_005243.4(EWSR1):c.1165-309G>A	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2244863	NM_005243.4(EWSR1):c.1247C>T (p.Ser416Phe)	EWSR1 (S360F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731471	NM_005243.4(EWSR1):c.1294+6A>T	EWSR1	Single nucleotide variant (intron variant)	EWSR1-related condition +1 more	GLikely benign
Select item 1280487	NM_005243.4(EWSR1):c.1294+130G>T	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286715	NM_005243.4(EWSR1):c.1294+139G>T	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224570	NM_005243.4(EWSR1):c.1295-177G>A	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 756080	NM_005243.4(EWSR1):c.1323A>G (p.Lys441=)	EWSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981022	NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser)	EWSR1 (G409S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1252933	NM_005243.4(EWSR1):c.1417+51A>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226351	NM_005243.4(EWSR1):c.1418-240T>C	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032662	NM_005243.4(EWSR1):c.1418-5_1418-3del	EWSR1	Microsatellite (intron variant)	EWSR1-related condition	GLikely benign
Select item 3090931	NM_005243.4(EWSR1):c.1517G>A (p.Arg506Gln)	EWSR1 (R506Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775774	NM_005243.4(EWSR1):c.1580+7A>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2259451	NM_005243.4(EWSR1):c.1676C>T (p.Pro559Leu)	EWSR1 (P559L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797355	NM_005243.4(EWSR1):c.1752C>T (p.Pro584=)	EWSR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328556	NM_005243.4(EWSR1):c.1781G>T (p.Gly594Val)	EWSR1 (G594V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981021	NM_005243.4(EWSR1):c.1783G>A (p.Asp595Asn)	EWSR1 (D539N +3 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 715207	NM_005243.4(EWSR1):c.1851C>T (p.Gly617=)	EWSR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090932	NM_005243.4(EWSR1):c.1894A>G (p.Arg632Gly)	EWSR1 (R576G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090933	NM_005243.4(EWSR1):c.1900G>A (p.Gly634Arg)	EWSR1 (G578R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311757	NM_005243.4(EWSR1):c.1906C>T (p.Arg636Cys)	EWSR1 (R580C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268712	NM_005243.4(EWSR1):c.1931+88T>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	KREMEN1, MTMR3 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	CABP7, CCDC117 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	ZNRF3, CCDC117 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	AP1B1, ASCC2 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 690369	t(21;22)(q21;q12)	ERG, EWSR1	Translocation	Neurofibromatosis, type 1 +1 more	GPathogenic

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Items: 83