"GeneDx"[submitter] AND "EWSR1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1248405	NM_005243.4(EWSR1):c.582-211A>T	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 1268712	NM_005243.4(EWSR1):c.1931+88T>G	EWSR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic