ClinVar for Gene (Select 55665) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331237	NM_001077663.3(URGCP):c.700G>A (p.Gly234Ser)	URGCP, URGCP-MRPS24 (G234S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331236	NM_001077663.3(URGCP):c.1645C>G (p.Gln549Glu)	URGCP, URGCP-MRPS24 (Q506E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331235	NM_001077663.3(URGCP):c.1621G>A (p.Gly541Ser)	URGCP, URGCP-MRPS24 (G498S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3331234	NM_001077663.3(URGCP):c.1247T>C (p.Leu416Pro)	URGCP, URGCP-MRPS24 (L416P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331233	NM_001077663.3(URGCP):c.1046A>G (p.Lys349Arg)	URGCP, URGCP-MRPS24 (K306R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331232	NM_001077663.3(URGCP):c.2773A>C (p.Ile925Leu)	URGCP, URGCP-MRPS24 (I916L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331231	NM_001077663.3(URGCP):c.752G>A (p.Arg251Gln)	URGCP, URGCP-MRPS24 (R208Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331229	NM_001077663.3(URGCP):c.2426C>T (p.Thr809Met)	URGCP, URGCP-MRPS24 (T809M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331228	NM_001077663.3(URGCP):c.1303G>A (p.Val435Ile)	URGCP, URGCP-MRPS24 (V392I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331227	NM_001077663.3(URGCP):c.424G>A (p.Ala142Thr)	URGCP, URGCP-MRPS24 (A142T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245902	NC_000007.13:g.(?_43810758)_(45977174_?)del	ADCY1, AEBP1 +31 more	Deletion	not provided	GUncertain significance
Select item 3186966	NM_001077663.3(URGCP):c.2638G>A (p.Gly880Ser)	URGCP, URGCP-MRPS24 (G871S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186965	NM_001077663.3(URGCP):c.2092G>A (p.Val698Ile)	URGCP, URGCP-MRPS24 (V689I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186964	NM_001077663.3(URGCP):c.1622G>T (p.Gly541Val)	URGCP, URGCP-MRPS24 (G541V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186963	NM_001077663.3(URGCP):c.1216C>G (p.Pro406Ala)	URGCP, URGCP-MRPS24 (P397A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2614261	NM_001077663.3(URGCP):c.1589G>A (p.Arg530Gln)	URGCP, URGCP-MRPS24 (R487Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598620	NM_001077663.3(URGCP):c.1282G>C (p.Val428Leu)	URGCP, URGCP-MRPS24 (V428L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594885	NM_001077663.3(URGCP):c.1133A>G (p.Glu378Gly)	URGCP, URGCP-MRPS24 (E335G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2592699	NM_001077663.3(URGCP):c.1270A>G (p.Ser424Gly)	URGCP, URGCP-MRPS24 (S424G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568883	NM_001077663.3(URGCP):c.2014G>A (p.Val672Ile)	URGCP, URGCP-MRPS24 (V629I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563581	NM_001077663.3(URGCP):c.2444A>G (p.Tyr815Cys)	URGCP, URGCP-MRPS24 (Y815C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546980	NM_001077663.3(URGCP):c.1925G>A (p.Arg642His)	URGCP, URGCP-MRPS24 (R633H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543065	NM_001077663.3(URGCP):c.536C>T (p.Thr179Met)	URGCP, URGCP-MRPS24 (T136M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526401	NM_001077663.3(URGCP):c.2572G>T (p.Gly858Cys)	URGCP, URGCP-MRPS24 (G858C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514710	NM_001077663.3(URGCP):c.751C>T (p.Arg251Trp)	URGCP, URGCP-MRPS24 (R208W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491001	NM_001077663.3(URGCP):c.1530G>T (p.Glu510Asp)	URGCP, URGCP-MRPS24 (E467D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489027	NM_001077663.3(URGCP):c.2789G>A (p.Arg930Gln)	URGCP, URGCP-MRPS24 (R930Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485148	NM_001077663.3(URGCP):c.1303G>T (p.Val435Phe)	URGCP, URGCP-MRPS24 (V392F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478889	NM_001077663.3(URGCP):c.2009T>C (p.Met670Thr)	URGCP, URGCP-MRPS24 (M627T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2423978	NC_000007.13:g.(?_43810758)_(44747598_?)del	AEBP1, BLVRA +17 more	Deletion	not provided	GUncertain significance
Select item 2395488	NM_001077663.3(URGCP):c.2348A>G (p.Asn783Ser)	URGCP, URGCP-MRPS24 (N740S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392300	NM_001077663.3(URGCP):c.1277G>A (p.Ser426Asn)	URGCP, URGCP-MRPS24 (S383N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381309	NM_001077663.3(URGCP):c.2285C>T (p.Thr762Met)	URGCP, URGCP-MRPS24 (T719M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365619	NM_001077663.3(URGCP):c.462G>T (p.Glu154Asp)	URGCP, URGCP-MRPS24 (E111D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350176	NM_001077663.3(URGCP):c.854C>T (p.Pro285Leu)	URGCP, URGCP-MRPS24 (P285L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341492	NM_001077663.3(URGCP):c.707T>A (p.Val236Glu)	URGCP, URGCP-MRPS24 (V227E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333393	NM_001077663.3(URGCP):c.2516T>C (p.Leu839Pro)	URGCP, URGCP-MRPS24 (L796P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331167	NM_001077663.3(URGCP):c.251C>T (p.Thr84Met)	URGCP, URGCP-MRPS24 (T41M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2319938	NM_001077663.3(URGCP):c.1753C>T (p.Pro585Ser)	URGCP, URGCP-MRPS24 (P542S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312119	NM_001077663.3(URGCP):c.796G>A (p.Val266Met)	URGCP, URGCP-MRPS24 (V223M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307754	NM_001077663.3(URGCP):c.847C>T (p.Leu283Phe)	URGCP, URGCP-MRPS24 (L240F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275358	NM_001077663.3(URGCP):c.2139T>G (p.Phe713Leu)	URGCP, URGCP-MRPS24 (F713L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225744	NM_001077663.3(URGCP):c.2354C>T (p.Thr785Ile)	URGCP, URGCP-MRPS24 (T785I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210577	NM_001077663.3(URGCP):c.1424G>A (p.Arg475Gln)	URGCP, URGCP-MRPS24 (R466Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 789009	NM_001077663.3(URGCP):c.1458G>A (p.Ser486=)	URGCP, URGCP-MRPS24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782263	NM_001077663.3(URGCP):c.1728G>A (p.Arg576=)	URGCP, URGCP-MRPS24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782262	NM_001077663.3(URGCP):c.2280C>T (p.Ala760=)	URGCP, URGCP-MRPS24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782261	NM_001077663.3(URGCP):c.2649C>T (p.His883=)	URGCP, URGCP-MRPS24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780676	NM_001077663.3(URGCP):c.1719C>A (p.Gly573=)	URGCP, URGCP-MRPS24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768145	NM_001077663.3(URGCP):c.1597C>T (p.Leu533=)	URGCP, URGCP-MRPS24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713330	NM_001077663.3(URGCP):c.784G>A (p.Ala262Thr)	URGCP, URGCP-MRPS24 (A262T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713329	NM_001077663.3(URGCP):c.1803C>T (p.Asp601=)	URGCP, URGCP-MRPS24	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 493558	GRCh37/hg19 7p13(chr7:43884184-44297732)x3	AEBP1, CAMK2B +11 more	Copy number gain	not provided	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ZMIZ2, ADCY1 +41 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 157047	NM_001077663.3(URGCP):c.15-7886_15-3360del	URGCP, URGCP-MRPS24	Deletion (intron variant)	Normal pregnancy	Gnot provided
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 76