ClinVar for Gene (Select 9181) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129203	NM_001162383.2(ARHGEF2):c.955G>A (p.Gly319Ser)	ARHGEF2 (G292S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129202	NM_001162383.2(ARHGEF2):c.919C>T (p.Pro307Ser)	ARHGEF2 (P280S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129201	NM_001162383.2(ARHGEF2):c.816G>C (p.Glu272Asp)	ARHGEF2 (E245D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129200	NM_001162383.2(ARHGEF2):c.785G>T (p.Arg262Leu)	ARHGEF2 (R234L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129199	NM_001162383.2(ARHGEF2):c.2774G>A (p.Arg925Gln)	ARHGEF2 (R924Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129198	NM_001162383.2(ARHGEF2):c.2722C>T (p.Arg908Cys)	ARHGEF2 (R908C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129197	NM_001162383.2(ARHGEF2):c.1837G>A (p.Gly613Arg)	ARHGEF2 (G586R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065080	NM_001162383.2(ARHGEF2):c.287C>T (p.Ala96Val)	ARHGEF2 (A69V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	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 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	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 3062600	GRCh37/hg19 1q22(chr1:155902621-156207096)x3	ARHGEF2, KHDC4 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3057848	NM_001162383.2(ARHGEF2):c.2406G>A (p.Thr802=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related condition	GLikely benign
Select item 3056607	NM_001162383.2(ARHGEF2):c.581-10T>C	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related condition	GBenign
Select item 3049428	NM_001162383.2(ARHGEF2):c.63+9G>A	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related condition	GLikely benign
Select item 3045372	NM_001162383.2(ARHGEF2):c.2004G>A (p.Leu668=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related condition	GLikely benign
Select item 3040342	NM_001162383.2(ARHGEF2):c.1836C>T (p.Val612=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related condition	GLikely benign
Select item 3040325	NM_001162383.2(ARHGEF2):c.1185G>A (p.Pro395=)	ARHGEF2, LOC122128443	Single nucleotide variant (synonymous variant)	ARHGEF2-related condition	GLikely benign
Select item 3040107	NM_001162383.2(ARHGEF2):c.1101+7G>A	ARHGEF2, LOC122128443	Single nucleotide variant (intron variant)	ARHGEF2-related condition	GLikely benign
Select item 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	not provided	GUncertain significance
Select item 2672361	NM_001162383.2(ARHGEF2):c.2472A>G (p.Leu824=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639444	NC_000001.11:g.155985342C>T	ARHGEF2	Single nucleotide variant	not provided	GLikely benign
Select item 2639443	NM_001162383.2(ARHGEF2):c.858C>T (p.Leu286=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639442	NM_001162383.2(ARHGEF2):c.1218C>T (p.His406=)	LOC122128443, ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639441	NM_001162383.2(ARHGEF2):c.1455G>A (p.Thr485=)	ARHGEF2, LOC122128443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639440	NM_001162383.2(ARHGEF2):c.2544G>C (p.Leu848=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2639439	NM_001162383.2(ARHGEF2):c.2913G>A (p.Pro971=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2624205	NM_001162383.2(ARHGEF2):c.1826G>A (p.Arg609Gln)	ARHGEF2 (R591Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620212	NM_001162383.2(ARHGEF2):c.365C>T (p.Ser122Leu)	ARHGEF2 (S95L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616873	NM_001162383.2(ARHGEF2):c.2551C>T (p.Arg851Cys)	ARHGEF2 (R850C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613892	NM_001162383.2(ARHGEF2):c.1036A>G (p.Ser346Gly)	ARHGEF2, LOC122128443 (S318G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605241	NM_001162383.2(ARHGEF2):c.1069G>A (p.Ala357Thr)	ARHGEF2, LOC122128443 (A339T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590845	NM_001162383.2(ARHGEF2):c.83T>C (p.Met28Thr)	ARHGEF2 (M11T +2 more)	Single nucleotide variant (missense variant +1 more)	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 2560907	NM_001162383.2(ARHGEF2):c.2889C>A (p.Asp963Glu)	ARHGEF2 (D946E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548314	NM_001162383.2(ARHGEF2):c.2280C>A (p.Asp760Glu)	ARHGEF2 (D742E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532279	NM_001162383.2(ARHGEF2):c.1340A>G (p.Asn447Ser)	ARHGEF2, LOC122128443 (N429S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526448	NM_001162383.2(ARHGEF2):c.559G>A (p.Val187Met)	ARHGEF2 (V160M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517159	NM_001162383.2(ARHGEF2):c.2038C>T (p.Pro680Ser)	ARHGEF2 (P653S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490120	NM_001162383.2(ARHGEF2):c.1924C>T (p.Arg642Cys)	ARHGEF2 (R614C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483491	NM_001162383.2(ARHGEF2):c.1949G>A (p.Arg650His)	ARHGEF2 (R622H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479859	NM_001162383.2(ARHGEF2):c.2387C>T (p.Ala796Val)	ARHGEF2 (A769V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439158	NM_001162383.2(ARHGEF2):c.734A>C (p.Gln245Pro)	ARHGEF2 (Q217P +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GUncertain significance
Select item 2394672	NM_001162383.2(ARHGEF2):c.2519G>A (p.Arg840Gln)	ARHGEF2 (R812Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392459	NM_001162383.2(ARHGEF2):c.2759G>A (p.Arg920Gln)	ARHGEF2 (R892Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382777	NM_001162383.2(ARHGEF2):c.1100G>A (p.Arg367Gln)	ARHGEF2, LOC122128443 (R339Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359929	NM_001162383.2(ARHGEF2):c.415C>T (p.Arg139Cys)	ARHGEF2 (R122C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356278	NM_001162383.2(ARHGEF2):c.784C>T (p.Arg262Cys)	ARHGEF2 (R234C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319097	NM_001162383.2(ARHGEF2):c.2084C>T (p.Thr695Met)	ARHGEF2 (T668M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292328	NM_001162383.2(ARHGEF2):c.1775G>A (p.Arg592Gln)	ARHGEF2 (R574Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286710	NM_001162383.2(ARHGEF2):c.1120G>A (p.Val374Met)	ARHGEF2, LOC122128443 (V347M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276339	NM_001162383.2(ARHGEF2):c.1901C>T (p.Pro634Leu)	ARHGEF2 (P606L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232670	NM_001162383.2(ARHGEF2):c.1805G>A (p.Arg602Gln)	ARHGEF2 (R574Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229635	NM_001162383.2(ARHGEF2):c.1582G>A (p.Val528Ile)	ARHGEF2 (V510I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215742	NM_001162383.2(ARHGEF2):c.1954G>A (p.Glu652Lys)	ARHGEF2 (E624K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205106	NM_001162383.2(ARHGEF2):c.911C>G (p.Ala304Gly)	ARHGEF2 (A276G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1801796	NM_001162383.2(ARHGEF2):c.2072G>T (p.Ser691Ile)	ARHGEF2 (S663I +4 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1675385	NC_000001.11:g.155984394C>T	ARHGEF2	Single nucleotide variant	not provided	GUncertain significance
Select item 1527304	GRCh37/hg19 1q22(chr1:155902781-156210031)	PMF1-BGLAP, SLC25A44 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1527293	GRCh37/hg19 1q22(chr1:155616264-156059947)	ARHGEF2, DAP3 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	CRABP2, DAP3 +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1444536	NC_000001.10:g.(?_155870179)_(156146788_?)dup	ARHGEF2, KHDC4 +9 more	Duplication	not provided	GUncertain significance
Select item 1192413	NM_001162383.2(ARHGEF2):c.1468+84C>T	ARHGEF2, LOC122128443	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GBenign
Select item 1192412	NM_001162383.2(ARHGEF2):c.1469-55G>A	ARHGEF2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GBenign
Select item 1192411	NM_001162383.2(ARHGEF2):c.1469-45A>G	ARHGEF2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GBenign
Select item 1192410	NM_001162383.2(ARHGEF2):c.2888-74A>T	ARHGEF2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GBenign
Select item 1029170	NM_001162383.2(ARHGEF2):c.917G>T (p.Cys306Phe)	ARHGEF2 (C278F +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 813682	NM_001162383.2(ARHGEF2):c.2935G>T (p.Gly979Trp)	ARHGEF2 (G979W +4 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813536	NM_001162383.2(ARHGEF2):c.1701G>C (p.Gln567His)	ARHGEF2 (Q540H +4 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 800808	NM_001162383.2(ARHGEF2):c.382G>A (p.Asp128Asn)	ARHGEF2 (D128N +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GUncertain significance
Select item 789946	NM_001162383.2(ARHGEF2):c.516A>G (p.Ser172=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related condition +1 more	GBenign
Select item 789945	NM_001162383.2(ARHGEF2):c.581-10T>A	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related condition +1 more	GBenign
Select item 789944	NM_001162383.2(ARHGEF2):c.1290C>T (p.Asp430=)	ARHGEF2, LOC122128443	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777949	NM_001162383.2(ARHGEF2):c.2202G>T (p.Pro734=)	ARHGEF2	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations +1 more	GBenign/Likely benign
Select item 775057	NM_001162383.2(ARHGEF2):c.1446G>A (p.Lys482=)	ARHGEF2, LOC122128443	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773818	NM_001162383.2(ARHGEF2):c.759A>G (p.Thr253=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773284	NM_001162383.2(ARHGEF2):c.2851G>T (p.Gly951Cys)	ARHGEF2 (G933C +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 746850	NM_001162383.2(ARHGEF2):c.1566G>A (p.Ser522=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738610	NM_001162383.2(ARHGEF2):c.123C>T (p.Leu41=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729577	NM_001162383.2(ARHGEF2):c.852C>T (p.Asp284=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 724752	NM_001162383.2(ARHGEF2):c.993G>A (p.Ala331=)	ARHGEF2, LOC122128443	Single nucleotide variant (synonymous variant)	ARHGEF2-related condition +1 more	GLikely benign
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 686756	GRCh37/hg19 1q22(chr1:155922215-156015659)x4	ARHGEF2, SSR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 660674	NC_000001.10:g.(?_155870169)_(156108907_?)dup	ARHGEF2-AS2, ARHGEF2 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 477767	NC_000001.10:g.(?_155880221)_(156109650_?)del	RAB25, RIT1 +8 more	Deletion	Noonan syndrome 8	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 427795	NM_001162383.2(ARHGEF2):c.1545+1del	ARHGEF2	Deletion (splice donor variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 152838	GRCh38/hg38 1q22(chr1:155960118-156013943)x3	ARHGEF2, ARHGEF2-AS2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance

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Items: 99