ClinVar for Gene (Select 9413) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245327	NC_000009.11:g.(?_71627953)_(72006720_?)del	BANCR, ENTREP1 +3 more	Deletion	not provided	GPathogenic
Select item 3089185	NM_001347995.2(ENTREP1):c.1435A>T (p.Ile479Leu)	ENTREP1 (I479L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089184	NM_001347995.2(ENTREP1):c.1057G>C (p.Val353Leu)	ENTREP1 (V353L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089183	NM_001347995.2(ENTREP1):c.1009G>A (p.Gly337Ser)	ENTREP1 (G184S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089182	NM_001347995.2(ENTREP1):c.977C>A (p.Pro326His)	ENTREP1 (P173H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089181	NM_001347995.2(ENTREP1):c.964C>T (p.Pro322Ser)	ENTREP1 (P169S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089180	NM_001347995.2(ENTREP1):c.941G>A (p.Arg314Gln)	ENTREP1 (R161Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089179	NM_001347995.2(ENTREP1):c.928T>A (p.Ser310Thr)	ENTREP1 (S310T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089178	NM_001347995.2(ENTREP1):c.892C>T (p.Pro298Ser)	ENTREP1 (P298S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089177	NM_001347995.2(ENTREP1):c.890C>T (p.Pro297Leu)	ENTREP1 (P297L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089176	NM_001347995.2(ENTREP1):c.862C>A (p.Arg288Ser)	ENTREP1 (R288S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089175	NM_001347995.2(ENTREP1):c.782G>A (p.Arg261His)	ENTREP1 (R108H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089174	NM_001347995.2(ENTREP1):c.757G>A (p.Val253Ile)	ENTREP1 (V253I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089173	NM_001347995.2(ENTREP1):c.713A>T (p.Lys238Ile)	ENTREP1 (K85I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089172	NM_001347995.2(ENTREP1):c.698A>G (p.His233Arg)	ENTREP1 (H80R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089171	NM_001347995.2(ENTREP1):c.1796G>A (p.Arg599Gln)	ENTREP1 (R446Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089170	NM_001347995.2(ENTREP1):c.1750C>T (p.Arg584Trp)	ENTREP1 (R584W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089169	NM_001347995.2(ENTREP1):c.1715C>T (p.Thr572Ile)	ENTREP1 (T419I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089168	NM_001347995.2(ENTREP1):c.577G>A (p.Asp193Asn)	ENTREP1 (D193N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089167	NM_001347995.2(ENTREP1):c.1634C>T (p.Thr545Ile)	ENTREP1 (T545I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089166	NM_001347995.2(ENTREP1):c.1570A>G (p.Met524Val)	ENTREP1 (M371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089165	NM_001347995.2(ENTREP1):c.1568A>T (p.His523Leu)	ENTREP1 (H370L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659243	NM_001347995.2(ENTREP1):c.1041G>A (p.Pro347=)	ENTREP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659242	NM_001347995.2(ENTREP1):c.297A>C (p.Ser99=)	ENTREP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2599912	NM_001347995.2(ENTREP1):c.949C>T (p.Arg317Cys)	ENTREP1 (R317C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599138	NM_001347995.2(ENTREP1):c.1120G>T (p.Ala374Ser)	ENTREP1 (A221S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541673	NM_001347995.2(ENTREP1):c.1720G>C (p.Ala574Pro)	ENTREP1 (A574P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540121	NM_001347995.2(ENTREP1):c.863G>T (p.Arg288Leu)	ENTREP1 (R288L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534898	NM_001347995.2(ENTREP1):c.1234C>A (p.Pro412Thr)	ENTREP1 (P259T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528686	NM_001347995.2(ENTREP1):c.1301C>A (p.Pro434His)	ENTREP1 (P434H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2513584	NM_001347995.2(ENTREP1):c.1342G>T (p.Ala448Ser)	ENTREP1 (A448S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479301	NM_001347995.2(ENTREP1):c.904C>G (p.Pro302Ala)	ENTREP1 (P149A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1411284	NC_000009.11:g.(?_71849335)_(72006720_?)dup	BANCR, ENTREP1 +1 more	Duplication	not provided	GUncertain significance
Select item 1340976	GRCh37/hg19 9q21.11(chr9:71746056-72142061)x3	APBA1, BANCR +2 more	Copy number gain	not provided	GUncertain significance
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 1318096	NM_001347995.2(ENTREP1):c.1163-10_1163-7del	ENTREP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1318031	NM_001347995.2(ENTREP1):c.1609-62G>C	ENTREP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317981	NM_001347995.2(ENTREP1):c.712-87C>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	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 1317671	NM_001347995.2(ENTREP1):c.1163-8del	ENTREP1	Deletion (intron variant)	not provided	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 1316211	NM_001347995.2(ENTREP1):c.582+80A>G	ENTREP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289858	NM_001347995.2(ENTREP1):c.1163-279del	ENTREP1	Deletion (intron variant)	not provided	GBenign
Select item 1289300	NM_001347995.2(ENTREP1):c.1163-9_1163-8del	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 1283568	NM_001347995.2(ENTREP1):c.1163-11_1163-8del	ENTREP1	Deletion (intron variant)	not provided	GBenign
Select item 1281258	NM_001347995.2(ENTREP1):c.472-139G>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 1279974	NM_001347995.2(ENTREP1):c.1163-31T>A	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1273308	NM_001347995.2(ENTREP1):c.1163-10_1163-8del	ENTREP1	Deletion (intron variant)	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 1259448	NM_001347995.2(ENTREP1):c.711+248C>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244511	NM_001347995.2(ENTREP1):c.582+280A>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 1237102	NM_001347995.2(ENTREP1):c.954-155T>G	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 1232588	NM_001347995.2(ENTREP1):c.*91dup	ENTREP1	Duplication (3 prime UTR variant)	not provided	GBenign
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 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 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 688659	GRCh37/hg19 9q21.11(chr9:71965068-72187141)x3	APBA1, ENTREP1	Copy number gain	not provided	GUncertain significance
Select item 688053	GRCh37/hg19 9q21.11(chr9:71415902-71996013)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686833	GRCh37/hg19 9q21.11(chr9:71415902-71971195)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686082	GRCh37/hg19 9q21.11(chr9:71533382-71987060)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685482	GRCh37/hg19 9q21.11(chr9:71910953-72118434)x3	APBA1, BANCR +1 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 681900	NM_001347995.2(ENTREP1):c.1698C>A (p.Gly566=)	ENTREP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 680428	NM_001347995.2(ENTREP1):c.1083+8C>T	ENTREP1	Single nucleotide variant (intron variant)	not provided	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 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 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 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 563609	GRCh37/hg19 9q21.11(chr9:71959778-72185751)x3	APBA1, FAM189A2	Copy number gain	not provided	GLikely benign
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 515577	NM_001347995.2(ENTREP1):c.1163-21_1163-7del	ENTREP1	Deletion (intron variant)	not specified	GLikely benign
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 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 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 514557	NM_001347995.2(ENTREP1):c.1425G>A (p.Pro475=)	ENTREP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 509118	NM_001347995.2(ENTREP1):c.711+7C>G	ENTREP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 508607	NM_001347995.2(ENTREP1):c.819+10T>C	ENTREP1	Single nucleotide variant (intron variant)	not specified	GBenign
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 508117	NM_001347995.2(ENTREP1):c.1163-7A>T	ENTREP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 508095	NM_001347995.2(ENTREP1):c.583-7C>T	ENTREP1	Single nucleotide variant (intron variant)	not specified	GBenign

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