ClinVar for Gene (Select 128272) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313491	NM_153213.5(ARHGEF19):c.108G>C (p.Glu36Asp)	ARHGEF19 (E36D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313486	NM_153213.5(ARHGEF19):c.896G>A (p.Ser299Asn)	ARHGEF19, LOC129929521 (S299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313483	NM_153213.5(ARHGEF19):c.1013G>A (p.Ser338Asn)	ARHGEF19, LOC129929521 (S338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313481	NM_153213.5(ARHGEF19):c.90G>C (p.Glu30Asp)	ARHGEF19 (E30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313476	NM_153213.5(ARHGEF19):c.1467G>T (p.Arg489Ser)	ARHGEF19 (R489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313467	NM_153213.5(ARHGEF19):c.1930G>A (p.Val644Ile)	ARHGEF19 (V644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3234202	NM_153213.5(ARHGEF19):c.610C>T (p.Arg204Trp)	ARHGEF19 (R204W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3129195	NM_153213.5(ARHGEF19):c.845A>T (p.Glu282Val)	ARHGEF19 (E282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129194	NM_153213.5(ARHGEF19):c.836G>T (p.Ser279Ile)	ARHGEF19 (S279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129192	NM_153213.5(ARHGEF19):c.469G>T (p.Ala157Ser)	ARHGEF19 (A157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129191	NM_153213.5(ARHGEF19):c.409G>C (p.Ala137Pro)	ARHGEF19 (A137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129190	NM_153213.5(ARHGEF19):c.391G>A (p.Gly131Ser)	ARHGEF19 (G131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129189	NM_153213.5(ARHGEF19):c.262G>A (p.Glu88Lys)	ARHGEF19 (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129188	NM_153213.5(ARHGEF19):c.2129T>C (p.Val710Ala)	ARHGEF19 (V710A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129187	NM_153213.5(ARHGEF19):c.206C>T (p.Thr69Ile)	ARHGEF19 (T69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129186	NM_153213.5(ARHGEF19):c.2053C>T (p.Arg685Trp)	ARHGEF19 (R685W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129184	NM_153213.5(ARHGEF19):c.190C>T (p.Arg64Cys)	ARHGEF19 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129183	NM_153213.5(ARHGEF19):c.1790G>C (p.Gly597Ala)	ARHGEF19 (G597A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129182	NM_153213.5(ARHGEF19):c.1733A>G (p.His578Arg)	ARHGEF19 (H578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129181	NM_153213.5(ARHGEF19):c.160G>A (p.Ala54Thr)	ARHGEF19 (A54T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129179	NM_153213.5(ARHGEF19):c.1150C>G (p.Leu384Val)	ARHGEF19 (L384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129178	NM_153213.5(ARHGEF19):c.1006T>A (p.Ser336Thr)	ARHGEF19, LOC129929521 (S336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638360	NM_153213.5(ARHGEF19):c.1080C>T (p.Asp360=)	ARHGEF19, LOC129929521	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621557	NM_153213.5(ARHGEF19):c.1096G>A (p.Val366Ile)	ARHGEF19, LOC129929521 (V366I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618890	NM_153213.5(ARHGEF19):c.191G>A (p.Arg64His)	ARHGEF19 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611684	NM_153213.5(ARHGEF19):c.451G>C (p.Gly151Arg)	ARHGEF19 (G151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588043	NM_153213.5(ARHGEF19):c.1073T>C (p.Ile358Thr)	ARHGEF19, LOC129929521 (I358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549484	NM_153213.5(ARHGEF19):c.571C>T (p.Pro191Ser)	ARHGEF19 (P191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543511	NM_153213.5(ARHGEF19):c.2038C>T (p.His680Tyr)	ARHGEF19 (H680Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535901	NM_153213.5(ARHGEF19):c.1121A>C (p.Asp374Ala)	ARHGEF19, LOC129929521 (D374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523598	NM_153213.5(ARHGEF19):c.2081G>A (p.Arg694Gln)	ARHGEF19 (R694Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523573	NM_153213.5(ARHGEF19):c.2023G>A (p.Gly675Arg)	ARHGEF19 (G675R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521201	NM_153213.5(ARHGEF19):c.2059C>T (p.Arg687Trp)	ARHGEF19 (R687W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494371	NM_153213.5(ARHGEF19):c.2150G>A (p.Cys717Tyr)	ARHGEF19 (C717Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489108	NM_153213.5(ARHGEF19):c.137T>C (p.Val46Ala)	ARHGEF19 (V46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485213	NM_153213.5(ARHGEF19):c.581G>A (p.Arg194Lys)	ARHGEF19 (R194K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469354	NM_153213.5(ARHGEF19):c.1486C>T (p.Arg496Cys)	ARHGEF19 (R496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2425113	NC_000001.10:g.(?_16451710)_(16532835_?)del	ARHGEF19, EPHA2	Deletion	Cataract 6 multiple types	GPathogenic
Select item 2405927	NM_153213.5(ARHGEF19):c.115G>A (p.Ala39Thr)	ARHGEF19 (A39T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382391	NM_153213.5(ARHGEF19):c.377G>A (p.Arg126His)	ARHGEF19 (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377082	NM_153213.5(ARHGEF19):c.629G>A (p.Arg210His)	ARHGEF19 (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372896	NM_153213.5(ARHGEF19):c.1382C>T (p.Ala461Val)	ARHGEF19 (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353418	NM_153213.5(ARHGEF19):c.1289C>T (p.Thr430Ile)	ARHGEF19 (T430I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351809	NM_153213.5(ARHGEF19):c.2361T>A (p.Asn787Lys)	ARHGEF19 (N787K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348337	NM_153213.5(ARHGEF19):c.1900C>T (p.Arg634Trp)	ARHGEF19 (R634W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343073	NM_153213.5(ARHGEF19):c.307C>G (p.Pro103Ala)	ARHGEF19 (P103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340796	NM_153213.5(ARHGEF19):c.145G>C (p.Asp49His)	ARHGEF19 (D49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340724	NM_153213.5(ARHGEF19):c.1862A>G (p.Tyr621Cys)	ARHGEF19 (Y621C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340205	NM_153213.5(ARHGEF19):c.2195A>G (p.Asp732Gly)	ARHGEF19 (D732G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303999	NM_153213.5(ARHGEF19):c.462G>T (p.Glu154Asp)	ARHGEF19 (E154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292140	NM_153213.5(ARHGEF19):c.1554G>C (p.Arg518Ser)	ARHGEF19 (R518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260069	NM_153213.5(ARHGEF19):c.698A>G (p.Lys233Arg)	ARHGEF19 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255412	NM_153213.5(ARHGEF19):c.995G>T (p.Arg332Leu)	ARHGEF19, LOC129929521 (R332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253355	NM_153213.5(ARHGEF19):c.731T>C (p.Met244Thr)	ARHGEF19 (M244T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249697	NM_153213.5(ARHGEF19):c.719G>T (p.Arg240Leu)	ARHGEF19 (R240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235960	NM_153213.5(ARHGEF19):c.975G>T (p.Glu325Asp)	ARHGEF19, LOC129929521 (E325D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234884	NM_153213.5(ARHGEF19):c.1013G>T (p.Ser338Ile)	ARHGEF19, LOC129929521 (S338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233794	NM_153213.5(ARHGEF19):c.388C>T (p.His130Tyr)	ARHGEF19 (H130Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233575	NM_153213.5(ARHGEF19):c.1328A>T (p.Glu443Val)	ARHGEF19 (E443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227138	NM_153213.5(ARHGEF19):c.526C>A (p.Pro176Thr)	ARHGEF19 (P176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222230	NM_153213.5(ARHGEF19):c.1443G>T (p.Gln481His)	ARHGEF19 (Q481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206885	NM_153213.5(ARHGEF19):c.1024C>G (p.Arg342Gly)	ARHGEF19, LOC129929521 (R342G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 786848	NM_153213.5(ARHGEF19):c.1898G>A (p.Arg633Gln)	ARHGEF19 (R633Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686997	GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1	ARHGEF19, CLCNKA +12 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
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 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 87