2175[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 58270	GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 148353	GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 153450	GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1	CDK10, CHMP1A +38 more	Copy number loss	See cases	GUncertain significance
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 321302	NM_001113525.2(ZNF276):c.1475-217T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321303	NM_001113525.2(ZNF276):c.1475-216G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GBenign
Select item 321304	NM_001113525.2(ZNF276):c.1475-191C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GBenign
Select item 321305	NM_001113525.2(ZNF276):c.1475-142T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321306	NM_001113525.2(ZNF276):c.1475-56C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321307	NM_001113525.2(ZNF276):c.1475-48G>A	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321308	NM_001113525.2(ZNF276):c.1475-24A>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 2463346	NM_001113525.2(ZNF276):c.1537G>A (p.Val513Ile)	ZNF276, FANCA (V438I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 321310	NM_001113525.2(ZNF276):c.1574+17A>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GBenign
Select item 321309	NM_001113525.2(ZNF276):c.1574+17del	FANCA, ZNF276	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 321312	NM_001113525.2(ZNF276):c.1574+23T>C	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GBenign
Select item 321311	NM_001113525.2(ZNF276):c.1574+23del	FANCA, ZNF276	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GBenign
Select item 886245	NM_001113525.2(ZNF276):c.1574+24C>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321313	NM_001113525.2(ZNF276):c.1574+26del	FANCA, ZNF276	Deletion (3 prime UTR variant +1 more)	Fanconi anemia	GLikely benign
Select item 886246	NM_001113525.2(ZNF276):c.1574+26C>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GBenign
Select item 321314	NM_001113525.2(ZNF276):c.1575-29G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GLikely benign
Select item 886247	NM_001113525.2(ZNF276):c.1575G>A (p.Gln525=)	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321315	NM_001113525.2(ZNF276):c.1679G>A (p.Gly560Asp)	ZNF276, FANCA (G485D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 2507434	NM_001113525.2(ZNF276):c.1685G>A (p.Arg562Gln)	FANCA, ZNF276 (R562Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2559386	NM_001113525.2(ZNF276):c.1752C>G (p.Asp584Glu)	FANCA, ZNF276 (D509E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 321316	NM_001113525.2(ZNF276):c.1753A>G (p.Lys585Glu)	FANCA, ZNF276 (K510E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 2568751	NM_001113525.2(ZNF276):c.1754A>T (p.Lys585Met)	FANCA, ZNF276 (K585M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 321317	NM_001113525.2(ZNF276):c.1815G>C (p.Glu605Asp)	FANCA, ZNF276 (E530D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia complementation group A	GBenign
Select item 321318	NM_001113525.2(ZNF276):c.*38C>T	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321319	NM_001113525.2(ZNF276):c.*68C>T	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 321320	NM_001113525.2(ZNF276):c.*69G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GBenign
Select item 321321	NM_001113525.2(ZNF276):c.*103C>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 974275	NM_001113525.2(ZNF276):c.*105C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 887249	NM_001113525.2(ZNF276):c.*183C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 321322	NM_001113525.2(ZNF276):c.*189C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia	GUncertain significance
Select item 321323	NM_001113525.2(ZNF276):c.*201C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 321324	NM_001113525.2(ZNF276):c.*209G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 888503	NM_001113525.2(ZNF276):c.*211C>G	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 888504	NM_001113525.2(ZNF276):c.*217A>T	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 888505	NM_001113525.2(ZNF276):c.*246G>A	ZNF276, FANCA	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 888506	NM_001113525.2(ZNF276):c.*251C>T	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 888507	NM_001113525.2(ZNF276):c.*313T>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 974273	NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)	FANCA, ZNF276	Deletion (3 prime UTR variant +2 more)	Fanconi anemia complementation group A +1 more	GPathogenic
Select item 652972	NC_000016.10:g.(?_89738591)_(89816625_?)del	FANCA, LOC112486223 +11 more	Deletion	Fanconi anemia	GPathogenic
Select item 1337788	NM_001113525.2(ZNF276):c.*348G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 803289	NM_001113525.2(ZNF276):c.*354G>A	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 697214	NM_000135.4(FANCA):c.4365C>T (p.Phe1455=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 1120805	NM_000135.4(FANCA):c.4362C>T (p.Leu1454=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 1478980	NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro)	FANCA, ZNF276 (L1454P)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1392887	NM_000135.4(FANCA):c.4358del (p.His1453fs)	FANCA, ZNF276 (H1453fs)	Deletion (frameshift variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1374412	NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr)	ZNF276, FANCA (H1453Y)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 2164724	NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)	FANCA, ZNF276 (S1449fs)	Deletion (frameshift variant +2 more)	Fanconi anemia	GUncertain significance
Select item 2170586	NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)	FANCA, ZNF276 (P1452R)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1447111	NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser)	FANCA, ZNF276 (P1452S)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1692229	NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln)	FANCA, ZNF276 (E1451Q)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1015858	NM_000135.4(FANCA):c.4350G>A (p.Gln1450=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia +1 more	GLikely benign
Select item 1014199	NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg)	FANCA, ZNF276 (Q1450R)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1614135	NM_000135.4(FANCA):c.4347C>A (p.Ser1449=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 2303562	NM_000135.4(FANCA):c.4346C>A (p.Ser1449Tyr)	ZNF276, FANCA (S1449Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1494738	NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys)	FANCA, ZNF276 (S1449C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1019200	NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg)	FANCA, ZNF276 (L1448R)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 2087366	NM_000135.4(FANCA):c.4342C>T (p.Leu1448=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 2000673	NM_000135.4(FANCA):c.4341C>T (p.Asp1447=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 1084413	NM_000135.4(FANCA):c.4338T>C (p.Ala1446=)	FANCA, ZNF276	Single nucleotide variant (3 prime UTR variant +2 more)	Fanconi anemia	GLikely benign
Select item 1398872	NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val)	FANCA, ZNF276 (A1446V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2083222	NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)	FANCA, ZNF276 (A1446S)	Single nucleotide variant (non-coding transcript variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1905920	NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)	ZNF276, FANCA (A1446T)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1905924	NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)	FANCA, ZNF276 (D1445E)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 696165	NM_000135.4(FANCA):c.4335C>T (p.Asp1445=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1372493	NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn)	FANCA, ZNF276 (D1445N)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 558234	NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs)	FANCA, ZNF276 (P1444fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group A	GUncertain significance
Select item 255268	NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 2067546	NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)	FANCA, ZNF276 (P1444A)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1119361	NM_000135.4(FANCA):c.4329C>T (p.Ala1443=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 2082670	NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)	FANCA, ZNF276 (A1443V)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 456130	NM_000135.4(FANCA):c.4326T>C (p.Ala1442=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign
Select item 571744	NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)	FANCA, ZNF276 (A1442G)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 2077006	NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)	FANCA, ZNF276 (Q1441*)	Single nucleotide variant (non-coding transcript variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1319515	NM_000135.4(FANCA):c.4319del (p.Gln1440fs)	FANCA, ZNF276 (Q1440fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GUncertain significance
Select item 557781	NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)	FANCA, ZNF276 (Q1440*)	Single nucleotide variant (nonsense +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 2958081	NM_000135.4(FANCA):c.4317A>G (p.Arg1439=)	FANCA, ZNF276	Single nucleotide variant (synonymous variant +2 more)	Fanconi anemia	GLikely benign

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