ClinVar for Gene (Select 11069) - ClinVar

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Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger 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 791156	NM_007023.4(RAPGEF4):c.2118G>A (p.Gly706=)	RAPGEF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 774835	NM_007023.4(RAPGEF4):c.1644G>A (p.Pro548=)	RAPGEF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 731020	NM_007023.4(RAPGEF4):c.2781C>T (p.Leu927=)	RAPGEF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 717581	NM_007023.4(RAPGEF4):c.2115C>T (p.Ser705=)	RAPGEF4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 516570	NM_007023.4(RAPGEF4):c.2116G>A (p.Gly706Arg)	RAPGEF4 (G706R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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
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 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	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 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 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 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 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 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	GPR155, GPR155-DT +159 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 80