ETV7[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2474036	NM_016135.4(ETV7):c.1022C>T (p.Pro341Leu)	ETV7 (P264L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350606	NM_016135.4(ETV7):c.988A>G (p.Ile330Val)	ETV7 (I271V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090790	NM_016135.4(ETV7):c.898C>A (p.Leu300Ile)	ETV7 (L149I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472623	NM_016135.4(ETV7):c.842G>A (p.Arg281His)	ETV7 (R130H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310591	NM_016135.4(ETV7):c.841C>T (p.Arg281Cys)	ETV7 (R130C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090788	NM_016135.4(ETV7):c.829G>A (p.Glu277Lys)	ETV7 (E222K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369159	NM_016135.4(ETV7):c.812G>C (p.Arg271Pro)	ETV7 (R120P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528097	NM_016135.4(ETV7):c.761G>A (p.Arg254Gln)	ETV7 (R173Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295188	NM_016135.4(ETV7):c.718G>A (p.Glu240Lys)	ETV7 (E163K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551100	NM_016135.4(ETV7):c.713G>A (p.Arg238Gln)	ETV7 (R157Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787665	NM_016135.4(ETV7):c.710C>T (p.Thr237Ile)	ETV7 (T182I +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3276637	NM_016135.4(ETV7):c.688G>A (p.Val230Met)	ETV7 (V79M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331256	NM_016135.4(ETV7):c.662C>T (p.Ala221Val)	ETV7 (A70V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311675	NM_016135.4(ETV7):c.646A>G (p.Ile216Val)	ETV7 (I161V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721447	NM_016135.4(ETV7):c.630G>A (p.Ala210=)	ETV7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3276638	NM_016135.4(ETV7):c.617G>T (p.Cys206Phe)	ETV7 (C151F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090787	NM_016135.4(ETV7):c.614T>C (p.Val205Ala)	ETV7 (V150A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254590	NM_016135.4(ETV7):c.605C>G (p.Thr202Ser)	ETV7 (T121S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276636	NM_016135.4(ETV7):c.521T>C (p.Leu174Pro)	ETV7 (L119P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090785	NM_016135.4(ETV7):c.455T>C (p.Met152Thr)	ETV7 (M71T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090784	NM_016135.4(ETV7):c.401C>T (p.Thr134Met)	ETV7 (T75M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600636	NM_016135.4(ETV7):c.350G>A (p.Arg117Gln)	ETV7 (R117Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090783	NM_016135.4(ETV7):c.286C>T (p.Arg96Trp)	ETV7 (R96W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090782	NM_016135.4(ETV7):c.256G>A (p.Ala86Thr)	ETV7 (A86T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591711	NM_016135.4(ETV7):c.228G>A (p.Ala76=)	ETV7 (G4R)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3090781	NM_016135.4(ETV7):c.225C>T (p.Thr75=)	ETV7 (R3C)	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 3276635	NM_016135.4(ETV7):c.191G>A (p.Arg64His)	ETV7 (R64H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522198	NM_016135.4(ETV7):c.154G>A (p.Ala52Thr)	ETV7 (A52T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387248	NM_016135.4(ETV7):c.154G>C (p.Ala52Pro)	ETV7 (A52P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090780	NM_016135.4(ETV7):c.118A>C (p.Ile40Leu)	ETV7 (I40L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603731	NM_016135.4(ETV7):c.23T>C (p.Ile8Thr)	ETV7 (I8T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090786	NM_016135.4(ETV7):c.5A>G (p.Gln2Arg)	ETV7, ETV7-AS1 (Q2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 42