ClinVar for Gene (Select 6675) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330479	NM_001324116.5(UAP1):c.1304A>G (p.Asn435Ser)	UAP1 (N373S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330478	NM_001324116.5(UAP1):c.1305T>A (p.Asn435Lys)	UAP1 (N373K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330477	NM_001324116.5(UAP1):c.788G>A (p.Arg263Gln)	UAP1 (R201Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330476	NM_001324116.5(UAP1):c.230T>C (p.Leu77Ser)	UAP1 (L77S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3330475	NM_001324116.5(UAP1):c.424C>T (p.Arg142Cys)	UAP1 (R142C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185356	NM_001324116.5(UAP1):c.862C>G (p.Pro288Ala)	UAP1 (P226A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185355	NM_001324116.5(UAP1):c.370A>T (p.Met124Leu)	UAP1 (M124L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185354	NM_001324116.5(UAP1):c.31T>C (p.Ser11Pro)	UAP1 (S11P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3185353	NM_001324116.5(UAP1):c.283C>T (p.Leu95Phe)	UAP1 (L95F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2639522	NM_001324116.5(UAP1):c.369G>A (p.Gly123=)	UAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623041	NM_001324116.5(UAP1):c.1528G>A (p.Asp510Asn)	UAP1 (D431N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606205	NM_001324116.5(UAP1):c.874G>A (p.Val292Ile)	UAP1 (V292I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603110	NM_001324116.5(UAP1):c.574A>G (p.Ile192Val)	UAP1 (I192V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596447	NM_001324116.5(UAP1):c.221G>T (p.Arg74Leu)	UAP1 (R74L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588296	NM_001324116.5(UAP1):c.928G>C (p.Ala310Pro)	UAP1 (A310P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480135	NM_001324116.5(UAP1):c.15C>A (p.Asp5Glu)	UAP1 (D5E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399051	NM_001324116.5(UAP1):c.319C>A (p.Leu107Ile)	UAP1 (L107I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367995	NM_001324116.5(UAP1):c.1459A>T (p.Ile487Phe)	UAP1 (I408F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292736	NM_001324116.5(UAP1):c.276T>G (p.Ser92Arg)	UAP1 (S92R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292681	NM_001324116.5(UAP1):c.997T>C (p.Phe333Leu)	UAP1 (F271L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284246	NM_001324116.5(UAP1):c.400A>C (p.Thr134Pro)	UAP1 (T72P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240135	NM_001324116.5(UAP1):c.1261G>A (p.Ala421Thr)	UAP1 (A359T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205437	NM_001324116.5(UAP1):c.1033T>G (p.Tyr345Asp)	UAP1 (Y283D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808712	GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1	ATF6, C1orf226 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979301	GRCh37/hg19 1q23.3(chr1:162536242-163169281)x3	DDR2, CCDC190 +4 more	Copy number gain	not provided	GUncertain significance
Select item 783952	NM_001324116.5(UAP1):c.1266G>A (p.Arg422=)	UAP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 772819	NM_001324116.5(UAP1):c.1171A>C (p.Lys391Gln)	UAP1 (K391Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 772818	NM_001324116.5(UAP1):c.485+9C>T	UAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769246	NM_001324116.5(UAP1):c.1486A>G (p.Ser496Gly)	UAP1 (S479G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 767720	NM_001324116.5(UAP1):c.975G>A (p.Ala325=)	UAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 736036	NM_001324116.5(UAP1):c.1182A>G (p.Val394=)	UAP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565194	GRCh37/hg19 1q23.3(chr1:162315980-162997340)x3	SH2D1B, UAP1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 48