CALCOCO1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 2223341	NM_020898.3(CALCOCO1):c.2071G>C (p.Glu691Gln)	CALCOCO1 (E606Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608086	NM_020898.3(CALCOCO1):c.1949C>A (p.Thr650Asn)	CALCOCO1 (T565N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136652	NM_020898.3(CALCOCO1):c.1936G>A (p.Gly646Arg)	CALCOCO1 (G561R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465541	NM_020898.3(CALCOCO1):c.1925A>G (p.Glu642Gly)	CALCOCO1 (E557G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300687	NM_020898.3(CALCOCO1):c.1873G>C (p.Gly625Arg)	CALCOCO1 (G625R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318160	NM_020898.3(CALCOCO1):c.1814T>G (p.Val605Gly)	CALCOCO1 (V605G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590478	NM_020898.3(CALCOCO1):c.1703G>A (p.Arg568Gln)	CALCOCO1 (R483Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363292	NM_020898.3(CALCOCO1):c.1694C>T (p.Ala565Val)	CALCOCO1 (A480V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589152	NM_020898.3(CALCOCO1):c.1677C>G (p.Asp559Glu)	CALCOCO1 (D474E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610133	NM_020898.3(CALCOCO1):c.1670G>A (p.Arg557His)	CALCOCO1 (R472H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2307057	NM_020898.3(CALCOCO1):c.1658G>A (p.Gly553Asp)	CALCOCO1 (G553D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397545	NM_020898.3(CALCOCO1):c.1614C>G (p.Asp538Glu)	CALCOCO1 (D538E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136651	NM_020898.3(CALCOCO1):c.1558A>G (p.Thr520Ala)	CALCOCO1 (T435A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2470093	NM_020898.3(CALCOCO1):c.1555G>A (p.Ala519Thr)	CALCOCO1 (A434T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136650	NM_020898.3(CALCOCO1):c.1517G>A (p.Arg506His)	CALCOCO1 (R421H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403365	NM_020898.3(CALCOCO1):c.1500G>A (p.Met500Ile)	CALCOCO1 (M415I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226205	NM_020898.3(CALCOCO1):c.1433C>A (p.Ala478Asp)	CALCOCO1 (A393D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495715	NM_020898.3(CALCOCO1):c.1409G>A (p.Arg470Gln)	CALCOCO1 (R385Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459381	NM_020898.3(CALCOCO1):c.1367G>A (p.Arg456Gln)	CALCOCO1 (R371Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240490	NM_020898.3(CALCOCO1):c.1357G>A (p.Glu453Lys)	CALCOCO1 (E368K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136649	NM_020898.3(CALCOCO1):c.1192G>A (p.Gly398Ser)	CALCOCO1 (G313S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3136648	NM_020898.3(CALCOCO1):c.1151G>A (p.Arg384His)	CALCOCO1 (R299H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596035	NM_020898.3(CALCOCO1):c.1124G>A (p.Arg375His)	CALCOCO1 (R375H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398482	NM_020898.3(CALCOCO1):c.1118G>A (p.Arg373Lys)	CALCOCO1 (R373K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393982	NM_020898.3(CALCOCO1):c.1111G>A (p.Ala371Thr)	CALCOCO1 (A286T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2590573	NM_020898.3(CALCOCO1):c.1037G>A (p.Arg346Gln)	CALCOCO1 (R261Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681694	NM_020898.3(CALCOCO1):c.1000C>T (p.Arg334Trp)	CALCOCO1 (R334W)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3136655	NM_020898.3(CALCOCO1):c.986G>T (p.Gly329Val)	CALCOCO1 (G329V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407829	NM_020898.3(CALCOCO1):c.944A>C (p.Gln315Pro)	CALCOCO1 (Q315P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136654	NM_020898.3(CALCOCO1):c.922G>C (p.Glu308Gln)	CALCOCO1 (E308Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305589	NM_020898.3(CALCOCO1):c.885C>A (p.His295Gln)	CALCOCO1 (H295Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588666	NM_020898.3(CALCOCO1):c.587C>T (p.Thr196Met)	CALCOCO1 (T163M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393983	NM_020898.3(CALCOCO1):c.575G>T (p.Arg192Met)	CALCOCO1 (R192M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136653	NM_020898.3(CALCOCO1):c.539G>A (p.Arg180Gln)	CALCOCO1 (R147Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382840	NM_020898.3(CALCOCO1):c.482A>G (p.Asn161Ser)	CALCOCO1 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643048	NM_020898.3(CALCOCO1):c.459C>T (p.Leu153=)	CALCOCO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2536936	NM_020898.3(CALCOCO1):c.442G>C (p.Val148Leu)	CALCOCO1 (V148L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509888	NM_020898.3(CALCOCO1):c.334C>A (p.Gln112Lys)	CALCOCO1 (Q112K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2281820	NM_020898.3(CALCOCO1):c.329G>A (p.Cys110Tyr)	CALCOCO1 (C110Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411902	NM_020898.3(CALCOCO1):c.314G>A (p.Arg105His)	CALCOCO1 (R105H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558304	NM_020898.3(CALCOCO1):c.271C>T (p.Pro91Ser)	CALCOCO1 (P91S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601725	NM_020898.3(CALCOCO1):c.65G>A (p.Arg22Gln)	CALCOCO1, LOC126861530 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265795	NM_020898.3(CALCOCO1):c.34C>T (p.Arg12Cys)	CALCOCO1, LOC126861530 (R12C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245927	NM_020898.3(CALCOCO1):c.23G>A (p.Arg8Gln)	CALCOCO1, LOC126861530 (R8Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54