RAPGEF4[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154600	GRCh38/hg38 2q31.1(chr2:172296909-172932166)x3	ITGA6, ITGA6-AS1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 2242343	NM_007023.4(RAPGEF4):c.23A>G (p.His8Arg)	RAPGEF4, RAPGEF4-AS1 (H8R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 2329083	NM_007023.4(RAPGEF4):c.121G>A (p.Val41Ile)	RAPGEF4 (V41I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726968	NM_007023.4(RAPGEF4):c.171A>G (p.Leu57=)	RAPGEF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2544734	NM_007023.4(RAPGEF4):c.226A>G (p.Ile76Val)	RAPGEF4 (I66V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151584	NM_007023.4(RAPGEF4):c.367C>T (p.Arg123Cys)	RAPGEF4 (R113C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243228	NM_007023.4(RAPGEF4):c.373G>A (p.Ala125Thr)	RAPGEF4 (A115T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312772	NM_007023.4(RAPGEF4):c.409C>T (p.Arg137Cys)	RAPGEF4 (R127C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219830	NM_007023.4(RAPGEF4):c.412A>G (p.Ile138Val)	RAPGEF4 (I138V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312766	NM_007023.4(RAPGEF4):c.467G>A (p.Gly156Glu)	RAPGEF4 (G146E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556465	NM_007023.4(RAPGEF4):c.598T>A (p.Ser200Thr)	RAPGEF4 (S56T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312773	NM_007023.4(RAPGEF4):c.632G>A (p.Arg211Gln)	RAPGEF4 (R180Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 767831	NM_007023.4(RAPGEF4):c.693A>G (p.Thr231=)	RAPGEF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3151585	NM_007023.4(RAPGEF4):c.830A>C (p.Glu277Ala)	RAPGEF4 (E133A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151586	NM_007023.4(RAPGEF4):c.877G>A (p.Glu293Lys)	RAPGEF4 (E73K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151587	NM_007023.4(RAPGEF4):c.883G>A (p.Glu295Lys)	RAPGEF4 (E142K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719070	NM_007023.4(RAPGEF4):c.922T>C (p.Cys308Arg)	RAPGEF4 (C277R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2252275	NM_007023.4(RAPGEF4):c.1060A>G (p.Ile354Val)	RAPGEF4 (I344V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151576	NM_007023.4(RAPGEF4):c.1147G>A (p.Val383Met)	RAPGEF4 (V212M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357184	NM_007023.4(RAPGEF4):c.1175C>T (p.Thr392Ile)	RAPGEF4 (T172I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590011	NM_007023.4(RAPGEF4):c.1309G>A (p.Val437Ile)	RAPGEF4 (V406I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376248	NM_007023.4(RAPGEF4):c.1378G>C (p.Val460Leu)	RAPGEF4 (V289L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312769	NM_007023.4(RAPGEF4):c.1448G>A (p.Gly483Glu)	RAPGEF4 (G452E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247385	NM_007023.4(RAPGEF4):c.1543A>G (p.Thr515Ala)	RAPGEF4 (T295A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789707	NM_007023.4(RAPGEF4):c.1546A>G (p.Ile516Val)	RAPGEF4 (I296V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3151577	NM_007023.4(RAPGEF4):c.1549C>T (p.Arg517Cys)	RAPGEF4 (R346C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774835	NM_007023.4(RAPGEF4):c.1644G>A (p.Pro548=)	RAPGEF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2486057	NM_007023.4(RAPGEF4):c.1657C>A (p.His553Asn)	RAPGEF4 (H400N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609209	NM_007023.4(RAPGEF4):c.1671G>C (p.Gln557His)	RAPGEF4 (Q413H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259625	NM_007023.4(RAPGEF4):c.1672C>G (p.Pro558Ala)	RAPGEF4 (P405A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151579	NM_007023.4(RAPGEF4):c.1819G>T (p.Val607Leu)	RAPGEF4 (V436L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151580	NM_007023.4(RAPGEF4):c.1829C>T (p.Ser610Leu)	RAPGEF4 (S466L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312771	NM_007023.4(RAPGEF4):c.1840C>T (p.Arg614Trp)	RAPGEF4 (R470W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206182	NM_007023.4(RAPGEF4):c.1841G>A (p.Arg614Gln)	RAPGEF4 (R443Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249085	NM_007023.4(RAPGEF4):c.1844T>C (p.Met615Thr)	RAPGEF4 (M605T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151581	NM_007023.4(RAPGEF4):c.1871C>T (p.Pro624Leu)	RAPGEF4 (P453L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718398	NM_007023.4(RAPGEF4):c.1916C>T (p.Ala639Val)	RAPGEF4 (A608V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2341435	NM_007023.4(RAPGEF4):c.1958C>T (p.Thr653Met)	RAPGEF4 (T509M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281464	NM_007023.4(RAPGEF4):c.1958C>A (p.Thr653Lys)	RAPGEF4 (T433K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456596	NM_007023.4(RAPGEF4):c.1993C>T (p.Arg665Cys)	RAPGEF4 (R647C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216845	NM_007023.4(RAPGEF4):c.1994G>A (p.Arg665His)	RAPGEF4 (R512H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375650	NM_007023.4(RAPGEF4):c.1996G>A (p.Gly666Ser)	RAPGEF4 (G446S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594782	NM_007023.4(RAPGEF4):c.2053C>T (p.Arg685Trp)	RAPGEF4 (R667W +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367372	NM_007023.4(RAPGEF4):c.2072C>T (p.Ser691Leu)	RAPGEF4 (S471L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 717581	NM_007023.4(RAPGEF4):c.2115C>T (p.Ser705=)	RAPGEF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 516570	NM_007023.4(RAPGEF4):c.2116G>A (p.Gly706Arg)	RAPGEF4 (G706R +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 791156	NM_007023.4(RAPGEF4):c.2118G>A (p.Gly706=)	RAPGEF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2335901	NM_007023.4(RAPGEF4):c.2168T>C (p.Leu723Pro)	RAPGEF4 (L570P +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312767	NM_007023.4(RAPGEF4):c.2182G>A (p.Val728Ile)	RAPGEF4 (V508I +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312774	NM_007023.4(RAPGEF4):c.2237A>G (p.Glu746Gly)	RAPGEF4 (E526G +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285176	NM_007023.4(RAPGEF4):c.2360T>A (p.Leu787His)	RAPGEF4 (L720H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151582	NM_007023.4(RAPGEF4):c.2582A>G (p.Asn861Ser)	RAPGEF4 (N690S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556246	NM_007023.4(RAPGEF4):c.2617G>A (p.Val873Ile)	RAPGEF4 (V873I +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312768	NM_007023.4(RAPGEF4):c.2630G>T (p.Arg877Leu)	RAPGEF4 (R657L +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538709	NM_007023.4(RAPGEF4):c.2660G>A (p.Ser887Asn)	RAPGEF4 (S820N +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236756	NM_007023.4(RAPGEF4):c.2726A>G (p.Tyr909Cys)	RAPGEF4 (Y756C +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3151583	NM_007023.4(RAPGEF4):c.2774C>T (p.Pro925Leu)	RAPGEF4 (P754L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 731020	NM_007023.4(RAPGEF4):c.2781C>T (p.Leu927=)	RAPGEF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2327377	NM_007023.4(RAPGEF4):c.2831A>G (p.Asn944Ser)	RAPGEF4 (N791S +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2672834	NM_007023.4(RAPGEF4):c.2855G>A (p.Arg952His)	RAPGEF4 (R732H +13 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2616791	NM_007023.4(RAPGEF4):c.2861T>C (p.Ile954Thr)	RAPGEF4 (I783T +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619944	NM_007023.4(RAPGEF4):c.2929A>G (p.Asn977Asp)	RAPGEF4 (N908D +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312764	NM_007023.4(RAPGEF4):c.2951G>A (p.Arg984Gln)	RAPGEF4 (R764Q +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455668	NM_007023.4(RAPGEF4):c.2953A>G (p.Ser985Gly)	RAPGEF4 (S765G +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312770	NM_007023.4(RAPGEF4):c.3019G>C (p.Glu1007Gln)	RAPGEF4 (E1007Q +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3247568	NC_000002.11:g.(?_173420879)_(174232392_?)del	CDCA7, MAP3K20 +2 more	Deletion	not provided	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814344	GRCh37/hg19 2q31.1(chr2:173865202-175428639)x1	CDCA7, CIR1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 91