2120[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 1339639	NM_001987.5(ETV6):c.-325dup	ETV6	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 2581206	NM_001987.5(ETV6):c.-29G>A	ETV6	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3052712	NM_001987.5(ETV6):c.-7G>A	ETV6	Single nucleotide variant (5 prime UTR variant)	ETV6-related disorder	GLikely benign
Select item 2960030	NM_001987.5(ETV6):c.6T>C (p.Ser2=)	ETV6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257954	NM_001987.5(ETV6):c.17C>G (p.Ala6Gly)	ETV6 (A6G)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 2987092	NM_001987.5(ETV6):c.17C>A (p.Ala6Asp)	ETV6 (A6D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257955	NM_001987.5(ETV6):c.19C>T (p.Gln7Ter)	ETV6 (Q7*)	Single nucleotide variant (nonsense +1 more)	Neoplasm	OUncertain significance
Select item 2329054	NM_001987.5(ETV6):c.23G>T (p.Cys8Phe)	ETV6 (C8F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3257956	NM_001987.5(ETV6):c.27C>A (p.Ser9Arg)	ETV6 (S9R)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 2574037	NM_001987.5(ETV6):c.33+1G>A	ETV6	Single nucleotide variant (splice donor variant)	Malignant lymphoma, large B-cell, diffuse	GLikely pathogenic
Select item 1336289	NM_001987.5(ETV6):c.33+7A>G	ETV6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2754931	NM_001987.5(ETV6):c.33+10T>C	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063751	NM_001987.5(ETV6):c.33+10T>A	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982034	NM_001987.5(ETV6):c.33+12C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973362	NM_001987.5(ETV6):c.33+14C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954705	NM_001987.5(ETV6):c.33+15C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969039	NM_001987.5(ETV6):c.33+20C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950641	NM_001987.5(ETV6):c.33+22_33+24del	ETV6	Deletion (intron variant)	not provided	GLikely benign
Select item 1269141	NM_001987.5(ETV6):c.33+126A>C	ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246990	NM_001987.5(ETV6):c.33+134A>G	ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276049	NM_001987.5(ETV6):c.33+191dup	ETV6	Duplication (intron variant)	not provided	GBenign
Select item 1197805	NM_001987.5(ETV6):c.33+185C>G	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229805	NM_001987.5(ETV6):c.33+189_33+190insG	ETV6	Insertion (intron variant)	not provided	GBenign
Select item 1245359	NM_001987.5(ETV6):c.33+209G>C	ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194994	NM_001987.5(ETV6):c.33+237T>C	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274955	NM_001987.5(ETV6):c.33+260A>G	ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209048	NM_001987.5(ETV6):c.33+293C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218671	NM_001987.5(ETV6):c.33+306C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686718	NM_001987.5(ETV6):c.34-314G>A	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204837	NM_001987.5(ETV6):c.34-259dup	ETV6	Duplication (intron variant)	not provided	GLikely benign
Select item 1214397	NM_001987.5(ETV6):c.34-8T>G	ETV6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2175748	NM_001987.5(ETV6):c.34-7T>C	ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2761695	NM_001987.5(ETV6):c.41G>T (p.Arg14Leu)	ETV6 (R14L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582756	NM_001987.5(ETV6):c.41G>A (p.Arg14Gln)	ETV6 (R13Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012575	NM_001987.5(ETV6):c.49T>C (p.Tyr17His)	ETV6 (Y16H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1337990	NM_001987.5(ETV6):c.51T>C (p.Tyr17=)	ETV6	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2877046	NM_001987.5(ETV6):c.55C>T (p.Pro19Ser)	ETV6 (P10S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308295	NM_001987.5(ETV6):c.55C>A (p.Pro19Thr)	ETV6 (P19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435096	NM_001987.5(ETV6):c.57T>C (p.Pro19=)	ETV6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2662898	NM_001987.5(ETV6):c.62A>G (p.Glu21Gly)	ETV6 (E12G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368293	NM_001987.5(ETV6):c.65G>A (p.Ser22Asn)	ETV6 (S13N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321488	NM_001987.5(ETV6):c.72G>A (p.Val24=)	ETV6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1050349	NM_001987.5(ETV6):c.74C>T (p.Pro25Leu)	ETV6 (P25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746494	NM_001987.5(ETV6):c.75G>A (p.Pro25=)	ETV6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1203136	NM_001987.5(ETV6):c.77G>C (p.Ser26Thr)	ETV6 (S26T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1950268	NM_001987.5(ETV6):c.81C>T (p.Tyr27=)	ETV6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2819424	NM_001987.5(ETV6):c.82G>C (p.Ala28Pro)	ETV6 (A27P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1337546	NM_001987.5(ETV6):c.82G>A (p.Ala28Thr)	ETV6 (A28T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2632275	NM_001987.5(ETV6):c.88T>G (p.Ser30Ala)	ETV6 (S21A +2 more)	Single nucleotide variant (missense variant +1 more)	ETV6-related disorder	GUncertain significance
Select item 2514787	NM_001987.5(ETV6):c.89C>T (p.Ser30Leu)	ETV6 (S21L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1320525	NM_001987.5(ETV6):c.92C>T (p.Thr31Met)	ETV6 (T31M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015899	NM_001987.5(ETV6):c.93G>T (p.Thr31=)	ETV6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2444659	NM_001987.5(ETV6):c.93_96delinsTCCC (p.Thr31_Pro32=)	ETV6	Indel (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1981718	NM_001987.5(ETV6):c.93G>A (p.Thr31=)	ETV6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015900	NM_001987.5(ETV6):c.96A>C (p.Pro32=)	ETV6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 452026	NM_001987.5(ETV6):c.98T>A (p.Leu33His)	ETV6 (L33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851257	NM_001987.5(ETV6):c.101A>G (p.His34Arg)	ETV6 (H25R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1960709	NM_001987.5(ETV6):c.102T>C (p.His34=)	ETV6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1305723	NM_001987.5(ETV6):c.102T>G (p.His34Gln)	ETV6 (H34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763975	NM_001987.5(ETV6):c.103G>A (p.Val35Ile)	ETV6 (V35I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1698990	NM_001987.5(ETV6):c.116G>A (p.Arg39Gln)	ETV6 (R39Q)	Single nucleotide variant (missense variant)	Thrombocytopenia 5 +1 more	GUncertain significance
Select item 2061131	NM_001987.5(ETV6):c.119C>T (p.Ala40Val)	ETV6 (A40V +2 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 5 +1 more	GLikely benign
Select item 3090777	NM_001987.5(ETV6):c.124A>G (p.Arg42Gly)	ETV6 (R42G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3340610	NM_001987.5(ETV6):c.130G>A (p.Glu44Lys)	ETV6 (E35K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628373	NM_001987.5(ETV6):c.133del (p.Glu45fs)	ETV6 (E36fs +2 more)	Deletion (frameshift variant +1 more)	Thrombocytopenia 5	GLikely pathogenic
Select item 2569726	NM_001987.5(ETV6):c.139T>G (p.Ser47Ala)	ETV6 (S46A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2747036	NM_001987.5(ETV6):c.145C>A (p.Arg49Ser)	ETV6 (R40S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810175	NM_001987.5(ETV6):c.145C>T (p.Arg49Cys)	ETV6 (R40C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681262	NM_001987.5(ETV6):c.146G>A (p.Arg49His)	ETV6 (R40H +2 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GPathogenic
Select item 2582064	NM_001987.5(ETV6):c.155C>T (p.Ala52Val)	ETV6 (A43V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1711999	NM_001987.5(ETV6):c.158A>G (p.His53Arg)	ETV6 (H53R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510429	NM_001987.5(ETV6):c.163+1G>A	ETV6	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1958315	NM_001987.5(ETV6):c.163+10C>G	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919929	NM_001987.5(ETV6):c.163+10C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924196	NM_001987.5(ETV6):c.163+17C>T	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989564	NM_001987.5(ETV6):c.163+18G>A	ETV6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500610	NM_001987.5(ETV6):c.163+52del	ETV6	Deletion (intron variant)	not provided	GLikely benign
Select item 1262440	NM_001987.5(ETV6):c.163+155G>A	ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266769	NM_001987.5(ETV6):c.163+162T>C	ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327672	NM_001987.5(ETV6):c.163+238_163+239dup	ETV6	Duplication (intron variant)	not provided	GLikely benign
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 2665013	GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	DUSP16, LOC124625907 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2858681	NM_001987.5(ETV6):c.164-20C>T	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988918	NM_001987.5(ETV6):c.164-17C>T	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2709711	NM_001987.5(ETV6):c.164-16A>G	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983415	NM_001987.5(ETV6):c.164-11C>T	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758074	NM_001987.5(ETV6):c.166T>C (p.Leu56=)	ETV6, LOC126861451	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871524	NM_001987.5(ETV6):c.168G>A (p.Leu56=)	ETV6, LOC126861451	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970675	NM_001987.5(ETV6):c.171G>A (p.Gln57=)	ETV6, LOC126861451	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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