ClinVar for Gene (Select 440695) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276628	NM_001004341.2(ETV3L):c.406G>A (p.Ala136Thr)	ETV3L (A136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276627	NM_001004341.2(ETV3L):c.1001C>A (p.Thr334Asn)	ETV3L (T334N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276626	NM_001004341.2(ETV3L):c.728A>G (p.Asn243Ser)	ETV3L (N243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276625	NM_001004341.2(ETV3L):c.244C>T (p.Arg82Cys)	ETV3L (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276624	NM_001004341.2(ETV3L):c.170T>A (p.Val57Asp)	ETV3L (V57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3090762	NM_001004341.2(ETV3L):c.909G>T (p.Leu303Phe)	ETV3L (L303F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090760	NM_001004341.2(ETV3L):c.679C>A (p.Pro227Thr)	ETV3L (P227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090759	NM_001004341.2(ETV3L):c.664G>A (p.Val222Ile)	ETV3L (V222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090758	NM_001004341.2(ETV3L):c.633C>G (p.Cys211Trp)	ETV3L (C211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090757	NM_001004341.2(ETV3L):c.602T>A (p.Val201Asp)	ETV3L (V201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090756	NM_001004341.2(ETV3L):c.595A>C (p.Ser199Arg)	ETV3L (S199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090755	NM_001004341.2(ETV3L):c.287G>A (p.Arg96Gln)	ETV3L (R96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090754	NM_001004341.2(ETV3L):c.233G>A (p.Arg78His)	ETV3L (R78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090753	NM_001004341.2(ETV3L):c.229G>C (p.Ala77Pro)	ETV3L (A77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090752	NM_001004341.2(ETV3L):c.1040C>T (p.Pro347Leu)	ETV3L (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090751	NM_001004341.2(ETV3L):c.1037C>A (p.Ser346Tyr)	ETV3L (S346Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090750	NM_001004341.2(ETV3L):c.1034C>T (p.Thr345Ile)	ETV3L (T345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090749	NM_001004341.2(ETV3L):c.1029C>G (p.Ser343Arg)	ETV3L (S343R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090748	NM_001004341.2(ETV3L):c.1028G>A (p.Ser343Asn)	ETV3L (S343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3055606	NM_001004341.2(ETV3L):c.933A>G (p.Glu311=)	ETV3L	Single nucleotide variant (synonymous variant)	ETV3L-related disorder	GLikely benign
Select item 3048731	NM_001004341.2(ETV3L):c.791C>T (p.Ala264Val)	ETV3L (A264V)	Single nucleotide variant (missense variant)	ETV3L-related disorder	GLikely benign
Select item 3039586	NM_001004341.2(ETV3L):c.423C>G (p.His141Gln)	ETV3L (H141Q)	Single nucleotide variant (missense variant)	ETV3L-related disorder	GLikely benign
Select item 3037420	NM_001004341.2(ETV3L):c.95C>T (p.Ser32Leu)	ETV3L (S32L)	Single nucleotide variant (missense variant)	ETV3L-related disorder	GLikely benign
Select item 2685710	GRCh37/hg19 1q23.1(chr1:156996766-157144209)x1	ARHGEF11, ETV3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2639472	NM_001004341.2(ETV3L):c.813C>T (p.Leu271=)	ETV3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601372	NM_001004341.2(ETV3L):c.419C>T (p.Pro140Leu)	ETV3L (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592425	NM_001004341.2(ETV3L):c.404G>A (p.Arg135Gln)	ETV3L (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2546153	NM_001004341.2(ETV3L):c.354G>C (p.Lys118Asn)	ETV3L (K118N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544200	NM_001004341.2(ETV3L):c.920C>T (p.Pro307Leu)	ETV3L (P307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489427	NM_001004341.2(ETV3L):c.887C>T (p.Ala296Val)	ETV3L (A296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472207	NM_001004341.2(ETV3L):c.416C>T (p.Ser139Phe)	ETV3L (S139F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468122	NM_001004341.2(ETV3L):c.187G>A (p.Gly63Arg)	ETV3L (G63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407895	NM_001004341.2(ETV3L):c.452G>A (p.Arg151Gln)	ETV3L (R151Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380252	NM_001004341.2(ETV3L):c.407C>T (p.Ala136Val)	ETV3L (A136V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377683	NM_001004341.2(ETV3L):c.43G>A (p.Gly15Ser)	ETV3L (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340307	NM_001004341.2(ETV3L):c.668A>T (p.Gln223Leu)	ETV3L (Q223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337603	NM_001004341.2(ETV3L):c.685G>T (p.Val229Phe)	ETV3L (V229F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311227	NM_001004341.2(ETV3L):c.469G>A (p.Val157Met)	ETV3L (V157M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223294	NM_001004341.2(ETV3L):c.683G>A (p.Gly228Asp)	ETV3L (G228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 791815	NM_001004341.2(ETV3L):c.312G>A (p.Lys104=)	ETV3L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782231	NM_001004341.2(ETV3L):c.896G>A (p.Arg299Lys)	ETV3L (R299K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775611	NM_001004341.2(ETV3L):c.261A>G (p.Pro87=)	ETV3L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767711	NM_001004341.2(ETV3L):c.389C>G (p.Pro130Arg)	ETV3L (P130R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734580	NM_001004341.2(ETV3L):c.607C>T (p.Arg203Ter)	ETV3L (R203*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely benign
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54