ClinVar for Gene (Select 9100) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2684822	GRCh37/hg19 16q24.1(chr16:84613250-84998752)x3	COTL1, CRISPLD2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2613385	NM_005153.3(USP10):c.614C>A (p.Thr205Lys)	USP10 (T205K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603944	NM_005153.3(USP10):c.964C>A (p.Pro322Thr)	USP10 (P322T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601941	NM_005153.3(USP10):c.820G>A (p.Val274Ile)	USP10 (V274I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589638	NM_005153.3(USP10):c.1649A>G (p.Asn550Ser)	USP10 (N554S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588846	NM_005153.3(USP10):c.1211C>T (p.Thr404Ile)	USP10 (T404I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557463	NM_005153.3(USP10):c.2192C>G (p.Thr731Ser)	USP10 (T731S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551612	NM_005153.3(USP10):c.2005A>G (p.Ile669Val)	USP10 (I673V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547904	NM_005153.3(USP10):c.907G>C (p.Glu303Gln)	USP10 (E303Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537208	NM_005153.3(USP10):c.56A>G (p.Asn19Ser)	USP10 (N19S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515693	NM_005153.3(USP10):c.332G>T (p.Gly111Val)	USP10 (G115V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492727	NM_005153.3(USP10):c.1909T>G (p.Ser637Ala)	USP10 (S641A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469757	NM_005153.3(USP10):c.1646G>C (p.Ser549Thr)	USP10 (S553T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462853	NM_005153.3(USP10):c.367G>A (p.Ala123Thr)	USP10 (A123T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455199	NM_005153.3(USP10):c.388G>A (p.Val130Met)	USP10 (V130M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399128	NM_005153.3(USP10):c.932A>C (p.Asp311Ala)	USP10 (D311A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395775	NM_005153.3(USP10):c.565G>C (p.Val189Leu)	USP10 (V189L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393718	NM_005153.3(USP10):c.701G>A (p.Ser234Asn)	USP10 (S234N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378364	NM_005153.3(USP10):c.2365C>A (p.Leu789Ile)	USP10 (L789I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378068	NM_005153.3(USP10):c.1480C>T (p.Arg494Cys)	USP10 (R494C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363735	NM_005153.3(USP10):c.71C>T (p.Thr24Ile)	USP10 (T28I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353831	NM_005153.3(USP10):c.1529T>C (p.Val510Ala)	USP10 (V510A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351290	NM_005153.3(USP10):c.245C>T (p.Thr82Ile)	USP10 (T82I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347779	NM_005153.3(USP10):c.1156C>A (p.Pro386Thr)	USP10 (P386T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346985	NM_005153.3(USP10):c.446G>A (p.Arg149His)	USP10 (R149H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344880	NM_005153.3(USP10):c.320A>G (p.Glu107Gly)	USP10 (E107G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334996	NM_005153.3(USP10):c.314C>G (p.Thr105Ser)	USP10 (T109S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330368	NM_005153.3(USP10):c.176T>A (p.Phe59Tyr)	USP10 (F59Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324981	NM_005153.3(USP10):c.677G>T (p.Ser226Ile)	USP10 (S230I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318716	NM_005153.3(USP10):c.7C>T (p.Leu3Phe)	LOC130059593, USP10 (L3F)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2315240	NM_005153.3(USP10):c.63C>A (p.Phe21Leu)	USP10 (F21L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302908	NM_005153.3(USP10):c.1555G>C (p.Gly519Arg)	USP10 (G519R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288958	NM_005153.3(USP10):c.1252A>C (p.Ile418Leu)	USP10 (I422L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274870	NM_005153.3(USP10):c.1016C>G (p.Pro339Arg)	USP10 (P343R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273791	NM_005153.3(USP10):c.1851G>T (p.Gln617His)	USP10 (Q617H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272227	NM_005153.3(USP10):c.2062C>G (p.Arg688Gly)	USP10 (R688G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267457	NM_005153.3(USP10):c.2234C>T (p.Ala745Val)	USP10 (A749V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260838	NM_005153.3(USP10):c.1895A>C (p.Gln632Pro)	USP10 (Q632P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256681	NM_005153.3(USP10):c.307G>T (p.Gly103Cys)	USP10 (G103C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256526	NM_005153.3(USP10):c.1477A>G (p.Ile493Val)	USP10 (I493V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249284	NM_005153.3(USP10):c.200C>A (p.Pro67His)	USP10 (P67H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233688	NM_005153.3(USP10):c.1400G>A (p.Arg467Gln)	USP10 (R471Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216794	NM_005153.3(USP10):c.505G>C (p.Asp169His)	USP10 (D169H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210053	NM_005153.3(USP10):c.2188C>G (p.Arg730Gly)	USP10 (R730G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208722	NM_005153.3(USP10):c.998C>G (p.Thr333Ser)	USP10 (T337S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207293	NM_005153.3(USP10):c.473G>A (p.Gly158Glu)	USP10 (G158E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207292	NM_005153.3(USP10):c.1072G>C (p.Ala358Pro)	USP10 (A358P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1526539	GRCh37/hg19 16q24.1(chr16:84319435-85011988)	WFDC1, ZDHHC7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526537	GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611)	HSDL1, ADAD2 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815856	GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1	OSGIN1, SLC38A8 +18 more	Copy number loss	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 686655	GRCh37/hg19 16q24.1(chr16:84608098-85087145)x1	COTL1, CRISPLD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 686382	GRCh37/hg19 16q24.1(chr16:84785377-84899548)x3	CRISPLD2, USP10	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 545214	NC_000016.10:g.(?_84593050)_(85516675_?)del	LOC121847997, LOC125177366 +70 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443758	GRCh37/hg19 16q24.1(chr16:84530234-84841354)x1	COTL1, KLHL36 +2 more	Copy number loss	See cases	GUncertain significance
Select item 443245	GRCh37/hg19 16q24.1(chr16:84776177-85087145)x1	CRISPLD2, KIAA0513 +2 more	Copy number loss	See cases	GLikely benign
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 219038	GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1	ADAD2, ATP2C2 +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic
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 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 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 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 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 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
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 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, ATP2C2 +203 more	Copy number loss	See cases	GPathogenic
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, ATP2C2 +80 more	Copy number gain	See cases	GUncertain significance
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 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	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 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic

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