ARHGEF2[gene] and "single gene"[properties] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2639439	NM_001162383.2(ARHGEF2):c.2913G>A (p.Pro971=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1192410	NM_001162383.2(ARHGEF2):c.2888-74A>T	ARHGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 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 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 2639440	NM_001162383.2(ARHGEF2):c.2544G>C (p.Leu848=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	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 2672361	NM_001162383.2(ARHGEF2):c.2472A>G (p.Leu824=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057848	NM_001162383.2(ARHGEF2):c.2406G>A (p.Thr802=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder	GLikely benign
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 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 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 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 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 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 3045372	NM_001162383.2(ARHGEF2):c.2004G>A (p.Leu668=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder	GLikely benign
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 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 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 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 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 3040342	NM_001162383.2(ARHGEF2):c.1836C>T (p.Val612=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder	GLikely benign
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 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 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 813536	NM_001162383.2(ARHGEF2):c.1701G>C (p.Gln567His)	ARHGEF2 (Q540H +4 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 3313519	NM_001162383.2(ARHGEF2):c.1679G>A (p.Ser560Asn)	ARHGEF2 (S559N +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 746850	NM_001162383.2(ARHGEF2):c.1566G>A (p.Ser522=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1192411	NM_001162383.2(ARHGEF2):c.1469-45A>G	ARHGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192412	NM_001162383.2(ARHGEF2):c.1469-55G>A	ARHGEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 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 3234893	NM_001162383.2(ARHGEF2):c.859A>G (p.Ser287Gly)	ARHGEF2 (S259G +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with midbrain and hindbrain malformations	GUncertain significance
Select item 2639443	NM_001162383.2(ARHGEF2):c.858C>T (p.Leu286=)	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 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 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 773818	NM_001162383.2(ARHGEF2):c.759A>G (p.Thr253=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3056607	NM_001162383.2(ARHGEF2):c.581-10T>C	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related disorder	GBenign
Select item 789945	NM_001162383.2(ARHGEF2):c.581-10T>A	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related disorder +1 more	GBenign
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 789946	NM_001162383.2(ARHGEF2):c.516A>G (p.Ser172=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder +1 more	GBenign
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 800808	NM_001162383.2(ARHGEF2):c.382G>A (p.Asp128Asn)	ARHGEF2 (D128N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 738610	NM_001162383.2(ARHGEF2):c.123C>T (p.Leu41=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3313498	NM_001162383.2(ARHGEF2):c.80A>G (p.Lys27Arg)	ARHGEF2 (K27R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049428	NM_001162383.2(ARHGEF2):c.63+9G>A	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related disorder	GLikely benign
Select item 1675385	NC_000001.11:g.155984394C>T	ARHGEF2	Single nucleotide variant	not provided	GUncertain significance
Select item 2639444	NC_000001.11:g.155985342C>T	ARHGEF2	Single nucleotide variant	not provided	GLikely benign

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Items: 62