Related gene-specific medical variations for Gene (Select 2120) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368017	NM_001987.5(ETV6):c.1057C>T (p.Arg353Trp)	ETV6, LOC126861452 (R265W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361360	NM_001987.5(ETV6):c.995T>C (p.Ile332Thr)	ETV6 (I244T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361055	NM_001987.5(ETV6):c.178T>G (p.Tyr60Asp)	ETV6 (Y51D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360895	NM_001987.5(ETV6):c.1286_1289dup (p.Thr431fs)	ETV6 (T343fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3359430	NM_001987.5(ETV6):c.666G>C (p.Arg222Ser)	ETV6 (R134S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343928	NM_001987.5(ETV6):c.1015A>T (p.Arg339Ter)	ETV6, LOC126861452 (R251* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3343684	NM_001987.5(ETV6):c.1063G>A (p.Glu355Lys)	ETV6, LOC126861452 (E267K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3244378	NC_000012.11:g.(?_11803062)_(12009741_?)dup	ETV6	Duplication	not provided	GUncertain significance
Select item 3244377	NC_000012.11:g.(?_12037359)_(12037541_?)del	ETV6	Deletion	not provided	GUncertain significance
Select item 3234698	NM_001987.5(ETV6):c.1102T>A (p.Phe368Ile)	ETV6, LOC126861452 (F280I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3064526	NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)	ETV6 (G337V +4 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 5	GPathogenic
Select item 3037062	NM_001987.5(ETV6):c.1127T>A (p.Leu376Gln)	ETV6, LOC126861452 (L288Q +3 more)	Single nucleotide variant (missense variant +1 more)	ETV6-related disorder	GUncertain significance
Select item 3022575	NM_001987.5(ETV6):c.1068C>G (p.Asn356Lys)	ETV6, LOC126861452 (N268K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022015	NM_001987.5(ETV6):c.1010-19T>C	ETV6, LOC126861452	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018703	NM_001987.5(ETV6):c.195C>T (p.Asp65=)	ETV6, LOC126861451	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2983415	NM_001987.5(ETV6):c.164-11C>T	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976963	NM_001987.5(ETV6):c.229T>C (p.Phe77Leu)	ETV6, LOC126861451 (F68L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2975495	NM_001987.5(ETV6):c.1088A>G (p.Lys363Arg)	ETV6, LOC126861452 (K354R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975481	NM_001987.5(ETV6):c.1087A>G (p.Lys363Glu)	ETV6, LOC126861452 (K275E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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
Select item 2962912	NM_001987.5(ETV6):c.1152+7G>A	ETV6, LOC126861452	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960099	NM_001987.5(ETV6):c.251G>C (p.Ser84Thr)	ETV6, LOC126861451 (S75T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893100	NM_001987.5(ETV6):c.1095C>T (p.Ser365=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 2869514	NM_001987.5(ETV6):c.1056C>T (p.Ser352=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2858681	NM_001987.5(ETV6):c.164-20C>T	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856371	NM_001987.5(ETV6):c.196_197del (p.Val66fs)	ETV6, LOC126861451 (V66fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2848808	NM_001987.5(ETV6):c.1062C>T (p.Tyr354=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2822603	NM_001987.5(ETV6):c.174A>C (p.Pro58=)	ETV6, LOC126861451	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2763701	NM_001987.5(ETV6):c.1107G>T (p.Arg369=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2760099	NM_001987.5(ETV6):c.200C>A (p.Ala67Asp)	ETV6, LOC126861451 (A66D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2735806	NM_001987.5(ETV6):c.1075C>T (p.Arg359Ter)	ETV6, LOC126861452 (R359* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2709711	NM_001987.5(ETV6):c.164-16A>G	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705625	NM_001987.5(ETV6):c.328+1G>T	ETV6, LOC126861451	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2694596	NM_001987.5(ETV6):c.1026G>A (p.Trp342Ter)	ETV6, LOC126861452 (W254* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2642732	NM_001987.5(ETV6):c.1152+512G>A	ETV6, LOC126861452	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2576927	NM_001987.5(ETV6):c.311A>G (p.Tyr104Cys)	ETV6, LOC126861451 (Y103C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521511	NM_001987.5(ETV6):c.1123G>A (p.Gly375Arg)	ETV6, LOC126861452 (G287R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505926	NM_001987.5(ETV6):c.244A>G (p.Ile82Val)	ETV6, LOC126861451 (I73V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441305	NM_001987.5(ETV6):c.439A>T (p.Ile147Leu)	ETV6 (I138L +3 more)	Single nucleotide variant (missense variant)	Thrombocytopenia 5	GUncertain significance
Select item 2197329	NM_001987.5(ETV6):c.204G>C (p.Gln68His)	ETV6, LOC126861451 (Q59H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196312	NM_001987.5(ETV6):c.1032C>T (p.Tyr344=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2137299	NM_001987.5(ETV6):c.1058G>A (p.Arg353Gln)	ETV6, LOC126861452 (R352Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092850	NM_001987.5(ETV6):c.1075C>G (p.Arg359Gly)	ETV6, LOC126861452 (R350G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027425	NM_001987.5(ETV6):c.1135C>T (p.Leu379=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant +1 more)	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 1939015	NM_001987.5(ETV6):c.1010-3T>C	ETV6, LOC126861452	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1719063	NM_001987.5(ETV6):c.1082A>G (p.Glu361Gly)	ETV6, LOC126861452 (E361G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703824	NM_001987.5(ETV6):c.1076G>T (p.Arg359Leu)	ETV6, LOC126861452 (R359L)	Single nucleotide variant (missense variant)	Thrombocytopenia 5	GUncertain significance
Select item 1699041	NM_001987.5(ETV6):c.1152+6del	ETV6, LOC126861452	Deletion (intron variant)	Thrombocytopenia 5	GUncertain significance
Select item 1690668	NM_001987.5(ETV6):c.1102T>G (p.Phe368Val)	ETV6, LOC126861452 (F368V)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1684380	NM_001987.5(ETV6):c.1085A>G (p.Asp362Gly)	ETV6, LOC126861452 (D362G)	Single nucleotide variant (missense variant)	Thrombocytopenia 5	GUncertain significance
Select item 1677253	NM_001987.5(ETV6):c.1034T>G (p.Val345Gly)	ETV6, LOC126861452 (V345G)	Single nucleotide variant (missense variant)	Thrombocytopenia 5	GUncertain significance
Select item 1676393	NM_001987.5(ETV6):c.416C>G (p.Ser139Cys)	ETV6 (S139C)	Single nucleotide variant	not provided	GUncertain significance
Select item 1338568	NM_001987.5(ETV6):c.1075_1086dup (p.Arg359_Asp362dup)	ETV6, LOC126861452	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 1338490	NM_001987.5(ETV6):c.1132C>T (p.Arg378Ter)	LOC126861452, ETV6 (R378*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1337993	NM_001987.5(ETV6):c.1143A>T (p.Gly381=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1337892	NM_001987.5(ETV6):c.196G>A (p.Val66Ile)	ETV6, LOC126861451 (V66I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1337035	NM_001987.5(ETV6):c.1133G>A (p.Arg378Gln)	ETV6, LOC126861452 (R378Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1336350	NM_001987.5(ETV6):c.210C>T (p.Leu70=)	ETV6, LOC126861451	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1306766	NM_001987.5(ETV6):c.1142G>A (p.Gly381Glu)	ETV6, LOC126861452 (G381E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272565	NM_001987.5(ETV6):c.258G>A (p.Thr86=)	ETV6, LOC126861451	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1224013	NM_001987.5(ETV6):c.1010-61C>G	LOC126861452, ETV6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208730	NM_001987.5(ETV6):c.328+307G>A	ETV6, LOC126861451	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172743	NM_001987.5(ETV6):c.1113_1120delinsCCCCCCAC (p.Asp372_Asn374delinsProProHis)	ETV6, LOC126861452	Indel (missense variant)	Thrombocytopenia 5	GUncertain significance
Select item 988846	NM_001987.5(ETV6):c.313C>T (p.Arg105Ter)	ETV6, LOC126861451 (R105*)	Single nucleotide variant (nonsense)	ETV6-related disorder	GLikely pathogenic
Select item 770984	NM_001987.5(ETV6):c.1075C>A (p.Arg359=)	ETV6, LOC126861452	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 666601	NM_001987.5(ETV6):c.1037A>G (p.Tyr346Cys)	ETV6, LOC126861452 (Y346C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 627198	NM_001987.5(ETV6):c.1043T>C (p.Leu348Ser)	ETV6, LOC126861452 (L348S)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
Select item 626971	NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp)	ETV6, LOC126861452 (R369W)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GPathogenic/Likely pathogenic
Select item 590266	t(12;13)(p13.2;q12.2)	ETV6, FLT3	Translocation	Chronic myelomonocytic leukemia	GLikely pathogenic
Select item 450913	NM_001987.5(ETV6):c.1052A>G (p.Asp351Gly)	ETV6, LOC126861452 (D351G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435099	NM_001987.5(ETV6):c.1152+5A>G	ETV6, LOC126861452	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 190241	NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro)	ETV6, LOC126861452 (L349P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 162221	NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)	ETV6, LOC126861452	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 8984	NM_001987.5(ETV6):c.226G>T (p.Glu76Ter)	ETV6, LOC126861451 (E76*)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GPathogenic

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Items: 77