URGCP-MRPS24[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 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 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
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	AEBP1, BLVRA +231 more	Copy number loss	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
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	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 2278174	NM_032014.3(MRPS24):c.481A>G (p.Lys161Glu)	MRPS24, URGCP-MRPS24 (K161E)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374327	NM_032014.3(MRPS24):c.455G>A (p.Arg152Gln)	MRPS24, URGCP-MRPS24 (R152Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592808	NM_032014.3(MRPS24):c.277C>T (p.Arg93Cys)	MRPS24, URGCP-MRPS24 (R93C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507537	NM_032014.3(MRPS24):c.238G>A (p.Asp80Asn)	MRPS24, URGCP-MRPS24 (D80N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389246	NM_032014.3(MRPS24):c.45G>A (p.Leu15=)	MRPS24, URGCP-MRPS24 (V61I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 2526401	NM_001077663.3(URGCP):c.2572G>T (p.Gly858Cys)	URGCP, URGCP-MRPS24 (G858C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2225744	NM_001077663.3(URGCP):c.2354C>T (p.Thr785Ile)	URGCP-MRPS24, URGCP (T785I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2381309	NM_001077663.3(URGCP):c.2285C>T (p.Thr762Met)	URGCP-MRPS24, URGCP (T719M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2275358	NM_001077663.3(URGCP):c.2139T>G (p.Phe713Leu)	URGCP-MRPS24, URGCP (F713L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
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)	Inborn genetic diseases	GUncertain significance
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 2319938	NM_001077663.3(URGCP):c.1753C>T (p.Pro585Ser)	URGCP, URGCP-MRPS24 (P542S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2614261	NM_001077663.3(URGCP):c.1589G>A (p.Arg530Gln)	URGCP, URGCP-MRPS24 (R487Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 2210577	NM_001077663.3(URGCP):c.1424G>A (p.Arg475Gln)	URGCP-MRPS24, URGCP (R466Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 2307754	NM_001077663.3(URGCP):c.847C>T (p.Leu283Phe)	URGCP-MRPS24, URGCP (L240F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312119	NM_001077663.3(URGCP):c.796G>A (p.Val266Met)	URGCP-MRPS24, URGCP (V223M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2514710	NM_001077663.3(URGCP):c.751C>T (p.Arg251Trp)	URGCP, URGCP-MRPS24 (R208W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2365619	NM_001077663.3(URGCP):c.462G>T (p.Glu154Asp)	URGCP-MRPS24, URGCP (E111D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 157047	NM_001077663.3(URGCP):c.15-7886_15-3360del	URGCP, URGCP-MRPS24	Deletion (intron variant)	Normal pregnancy	Gnot provided

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Items: 50