55705[Gene ID] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 2339415	NM_018085.5(IPO9):c.34G>A (p.Gly12Arg)	IPO9, IPO9-AS1 (G12R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2524165	NM_018085.5(IPO9):c.37C>A (p.Leu13Met)	IPO9, IPO9-AS1 (L13M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2572195	NM_018085.5(IPO9):c.392C>T (p.Ala131Val)	IPO9 (A131V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2339313	NM_018085.5(IPO9):c.524G>T (p.Arg175Leu)	IPO9 (R175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248538	NM_018085.5(IPO9):c.537C>G (p.Asp179Glu)	IPO9 (D179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248460	NM_018085.5(IPO9):c.718G>A (p.Val240Met)	IPO9, LOC112577529 (V240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623848	NM_018085.5(IPO9):c.802G>A (p.Val268Ile)	IPO9, LOC112577529 (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110362	NM_018085.5(IPO9):c.944A>T (p.Glu315Val)	IPO9 (E315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110363	NM_018085.5(IPO9):c.947T>A (p.Val316Glu)	IPO9 (V316E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265863	NM_018085.5(IPO9):c.1022A>G (p.His341Arg)	IPO9 (H341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110352	NM_018085.5(IPO9):c.1027C>A (p.Leu343Ile)	IPO9 (L343I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597412	NM_018085.5(IPO9):c.1043A>T (p.Lys348Ile)	IPO9 (K348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286328	NM_018085.5(IPO9):c.1178C>A (p.Thr393Lys)	IPO9 (T393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350972	NM_018085.5(IPO9):c.1462C>T (p.Leu488Phe)	IPO9 (L488F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257620	NM_018085.5(IPO9):c.1492G>T (p.Ala498Ser)	IPO9 (A498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209656	NM_018085.5(IPO9):c.1578C>G (p.His526Gln)	IPO9 (H526Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791229	NM_018085.5(IPO9):c.1674G>A (p.Gln558=)	IPO9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110353	NM_018085.5(IPO9):c.1687A>G (p.Ser563Gly)	IPO9 (S563G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110354	NM_018085.5(IPO9):c.1727G>C (p.Ser576Thr)	IPO9 (S576T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480244	NM_018085.5(IPO9):c.1745T>G (p.Leu582Arg)	IPO9 (L582R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237694	NM_018085.5(IPO9):c.1786G>A (p.Glu596Lys)	IPO9 (E596K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110355	NM_018085.5(IPO9):c.1861G>A (p.Val621Ile)	IPO9 (V621I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327583	NM_018085.5(IPO9):c.1913C>G (p.Ala638Gly)	IPO9 (A638G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618392	NM_018085.5(IPO9):c.2003C>T (p.Ala668Val)	IPO9 (A668V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344633	NM_018085.5(IPO9):c.2144A>G (p.Glu715Gly)	IPO9 (E715G)	Single nucleotide variant (missense variant)	IPO9-related condition	GUncertain significance
Select item 2306905	NM_018085.5(IPO9):c.2261G>T (p.Arg754Leu)	IPO9 (R754L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236987	NM_018085.5(IPO9):c.2294G>A (p.Arg765His)	IPO9 (R765H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110356	NM_018085.5(IPO9):c.2552A>G (p.Tyr851Cys)	IPO9 (Y851C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110357	NM_018085.5(IPO9):c.2644C>T (p.Arg882Cys)	IPO9 (R882C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536151	NM_018085.5(IPO9):c.2657A>T (p.Glu886Val)	IPO9 (E886V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405514	NM_018085.5(IPO9):c.2693G>A (p.Arg898His)	IPO9 (R898H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110359	NM_018085.5(IPO9):c.2711A>G (p.Asn904Ser)	IPO9 (N904S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599686	NM_018085.5(IPO9):c.2780A>G (p.Asn927Ser)	IPO9 (N927S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614864	NM_018085.5(IPO9):c.2790G>T (p.Glu930Asp)	IPO9 (E930D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110360	NM_018085.5(IPO9):c.2800G>A (p.Ala934Thr)	IPO9 (A934T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110361	NM_018085.5(IPO9):c.2872G>A (p.Glu958Lys)	IPO9 (E958K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565211	GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3	ASCL5, CACNA1S +15 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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 54