"GeneDx"[submitter] AND "ENTREP1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59106	GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1	APBA1, BANCR +40 more	Copy number loss	See cases	GPathogenic
Select item 1179869	NM_001347995.2(ENTREP1):c.421C>T (p.Leu141Phe)	ENTREP1 (L141F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 681158	NM_001347995.2(ENTREP1):c.443C>T (p.Thr148Ile)	ENTREP1 (T148I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1281258	NM_001347995.2(ENTREP1):c.472-139G>C	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242940	NM_001347995.2(ENTREP1):c.472-100T>C	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280255	NM_001347995.2(ENTREP1):c.472-99G>A	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316211	NM_001347995.2(ENTREP1):c.582+80A>G	ENTREP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244511	NM_001347995.2(ENTREP1):c.582+280A>C	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508095	NM_001347995.2(ENTREP1):c.583-7C>T	ENTREP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 509118	NM_001347995.2(ENTREP1):c.711+7C>G	ENTREP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1316493	NM_001347995.2(ENTREP1):c.711+42G>A	ENTREP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259448	NM_001347995.2(ENTREP1):c.711+248C>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317981	NM_001347995.2(ENTREP1):c.712-87C>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508607	NM_001347995.2(ENTREP1):c.819+10T>C	ENTREP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 668412	NM_001347995.2(ENTREP1):c.856C>T (p.His286Tyr)	ENTREP1 (H133Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1237102	NM_001347995.2(ENTREP1):c.954-155T>G	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668253	NM_001347995.2(ENTREP1):c.1081C>T (p.Gln361Ter)	ENTREP1 (Q208* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 680428	NM_001347995.2(ENTREP1):c.1083+8C>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508582	NM_001347995.2(ENTREP1):c.1157C>T (p.Thr386Ile)	ENTREP1 (T233I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1289858	NM_001347995.2(ENTREP1):c.1163-279del	ENTREP1	Deletion (intron variant)	not provided	GBenign
Select item 1288071	NM_001347995.2(ENTREP1):c.1163-37C>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317671	NM_001347995.2(ENTREP1):c.1163-8del	ENTREP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1289300	NM_001347995.2(ENTREP1):c.1163-9_1163-8del	ENTREP1	Deletion (intron variant)	not provided	GBenign
Select item 1283568	NM_001347995.2(ENTREP1):c.1163-11_1163-8del	ENTREP1	Deletion (intron variant)	not provided	GBenign
Select item 1279974	NM_001347995.2(ENTREP1):c.1163-31T>A	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273308	NM_001347995.2(ENTREP1):c.1163-10_1163-8del	ENTREP1	Deletion (intron variant)	not provided	GBenign
Select item 515577	NM_001347995.2(ENTREP1):c.1163-21_1163-7del	ENTREP1	Deletion (intron variant)	not specified	GLikely benign
Select item 1318096	NM_001347995.2(ENTREP1):c.1163-10_1163-7del	ENTREP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1327877	NM_001347995.2(ENTREP1):c.1163-9_1163-7del	ENTREP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1320590	NM_001347995.2(ENTREP1):c.1163-8_1163-7del	ENTREP1	Deletion (intron variant)	not provided	GLikely benign
Select item 508117	NM_001347995.2(ENTREP1):c.1163-7A>T	ENTREP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 161521	NM_001347995.2(ENTREP1):c.1163-5del	ENTREP1	Deletion (intron variant)	not provided	GBenign
Select item 514991	NM_001347995.2(ENTREP1):c.1188C>T (p.Ala396=)	ENTREP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1317819	NM_001347995.2(ENTREP1):c.1247G>A (p.Arg416Gln)	ENTREP1 (R263Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1232140	NM_001347995.2(ENTREP1):c.1315+291C>A	ENTREP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1269419	NM_001347995.2(ENTREP1):c.1316-115A>C	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234317	NM_001347995.2(ENTREP1):c.1316-38T>C	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514557	NM_001347995.2(ENTREP1):c.1425G>A (p.Pro475=)	ENTREP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1276125	NM_001347995.2(ENTREP1):c.1608+163G>A	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273762	NM_001347995.2(ENTREP1):c.1609-244A>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318031	NM_001347995.2(ENTREP1):c.1609-62G>C	ENTREP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514985	NM_001347995.2(ENTREP1):c.1658C>T (p.Ser553Leu)	ENTREP1 (S400L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 514694	NM_001347995.2(ENTREP1):c.1659G>A (p.Ser553=)	ENTREP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 678698	NM_001347995.2(ENTREP1):c.1695C>T (p.Cys565=)	ENTREP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 681900	NM_001347995.2(ENTREP1):c.1698C>A (p.Gly566=)	ENTREP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 514986	NM_001347995.2(ENTREP1):c.1763C>T (p.Ala588Val)	ENTREP1 (A435V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1232588	NM_001347995.2(ENTREP1):c.*91dup	ENTREP1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 48