RUSC1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 659608	NC_000001.11:g.(?_155282411)_(155323834_?)del	FDPS, HCN3 +10 more	Deletion	not provided	GPathogenic
Select item 2639402	NM_001105203.2(RUSC1):c.213C>T (p.Cys71=)	RUSC1, RUSC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2319478	NM_001105203.2(RUSC1):c.340C>G (p.Pro114Ala)	RUSC1, RUSC1-AS1 (P114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639403	NM_001105203.2(RUSC1):c.1086G>A (p.Ser362=)	RUSC1, RUSC1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 659609	NC_000001.11:g.(?_155324845)_(155482449_?)del	ASH1L, LOC129388611 +3 more	Deletion	not provided	GPathogenic
Select item 2403006	NM_001105203.2(RUSC1):c.1384G>A (p.Val462Ile)	LOC129931568, RUSC1 (V52I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510827	NM_001105203.2(RUSC1):c.1387C>G (p.Pro463Ala)	LOC129931568, RUSC1 (P463A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157213	NM_001105203.2(RUSC1):c.1388C>T (p.Pro463Leu)	LOC129931568, RUSC1 (P463L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339439	NM_001105203.2(RUSC1):c.1390G>A (p.Gly464Arg)	LOC129931568, RUSC1 (G464R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594865	NM_001105203.2(RUSC1):c.1425T>G (p.Ser475Arg)	LOC129931568, RUSC1 (S65R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550722	NM_001105203.2(RUSC1):c.1489A>G (p.Lys497Glu)	RUSC1 (K87E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157214	NM_001105203.2(RUSC1):c.1497C>G (p.Ile499Met)	RUSC1 (I30M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569852	NM_001105203.2(RUSC1):c.1516C>T (p.Arg506Trp)	RUSC1 (R96W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254286	NM_001105203.2(RUSC1):c.1530G>C (p.Gln510His)	RUSC1 (Q100H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315812	NM_001105203.2(RUSC1):c.1532A>G (p.Lys511Arg)	RUSC1 (K511R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237296	NM_001105203.2(RUSC1):c.1542G>T (p.Leu514Phe)	RUSC1 (L39F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352424	NM_001105203.2(RUSC1):c.1619C>T (p.Ala540Val)	RUSC1 (A540V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311244	NM_001105203.2(RUSC1):c.1674C>G (p.Ser558Arg)	RUSC1 (S56R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488163	NM_001105203.2(RUSC1):c.1753C>T (p.Arg585Cys)	RUSC1 (R116C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157216	NM_001105203.2(RUSC1):c.1756C>G (p.Leu586Val)	RUSC1 (L176V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619886	NM_001105203.2(RUSC1):c.1956G>C (p.Gln652His)	RUSC1 (Q242H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349506	NM_001105203.2(RUSC1):c.2038G>A (p.Ala680Thr)	RUSC1 (A211T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315811	NM_001105203.2(RUSC1):c.2101C>T (p.Arg701Trp)	RUSC1 (R232W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607122	NM_001105203.2(RUSC1):c.2123G>T (p.Gly708Val)	RUSC1 (G239V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157217	NM_001105203.2(RUSC1):c.2137G>C (p.Ala713Pro)	RUSC1 (A713P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278038	NM_001105203.2(RUSC1):c.2191G>A (p.Glu731Lys)	RUSC1 (E256K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510386	NM_001105203.2(RUSC1):c.2264C>T (p.Pro755Leu)	RUSC1 (P180L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157218	NM_001105203.2(RUSC1):c.2304G>C (p.Glu768Asp)	RUSC1 (E193D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598095	NM_001105203.2(RUSC1):c.2438C>T (p.Pro813Leu)	RUSC1 (P338L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481007	NM_001105203.2(RUSC1):c.2467C>T (p.Arg823Trp)	RUSC1 (R348W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157220	NM_001105203.2(RUSC1):c.2468G>A (p.Arg823Gln)	RUSC1 (R354Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157221	NM_001105203.2(RUSC1):c.2482G>A (p.Glu828Lys)	RUSC1 (E326K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157222	NM_001105203.2(RUSC1):c.2548C>T (p.Arg850Trp)	RUSC1 (R275W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336685	NM_001105203.2(RUSC1):c.2549G>A (p.Arg850Gln)	RUSC1 (R348Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315813	NM_001105203.2(RUSC1):c.2614C>A (p.Arg872Ser)	RUSC1 (R766S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512024	NM_001105203.2(RUSC1):c.2705T>C (p.Leu902Pro)	RUSC1 (L400P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	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 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
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 394735	GRCh37/hg19 1q22(chr1:155282294-155383478)x1	ASH1L, FDPS +2 more	Copy number loss	See cases	GUncertain significance

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Items: 52