ARHGEF26[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 153419	GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1	AADAC, AADACL2 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 2463731	NM_015595.4(ARHGEF26):c.34A>G (p.Asn12Asp)	ARHGEF26 (N12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313628	NM_015595.4(ARHGEF26):c.38G>A (p.Ser13Asn)	ARHGEF26 (S13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129230	NM_015595.4(ARHGEF26):c.56G>T (p.Arg19Leu)	ARHGEF26 (R19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378113	NM_015595.4(ARHGEF26):c.71C>T (p.Pro24Leu)	ARHGEF26 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129233	NM_015595.4(ARHGEF26):c.95G>A (p.Arg32Gln)	ARHGEF26 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484956	NM_015595.4(ARHGEF26):c.125G>C (p.Ser42Thr)	ARHGEF26 (S42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129220	NM_015595.4(ARHGEF26):c.127C>T (p.Pro43Ser)	ARHGEF26 (P43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313619	NM_015595.4(ARHGEF26):c.133G>A (p.Gly45Arg)	ARHGEF26 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538016	NM_015595.4(ARHGEF26):c.199C>G (p.Gln67Glu)	ARHGEF26 (Q67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273346	NM_015595.4(ARHGEF26):c.202G>A (p.Val68Met)	ARHGEF26 (V68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252819	NM_015595.4(ARHGEF26):c.296C>T (p.Pro99Leu)	ARHGEF26 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382167	NM_015595.4(ARHGEF26):c.317C>T (p.Pro106Leu)	ARHGEF26 (P106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313656	NM_015595.4(ARHGEF26):c.323T>G (p.Leu108Arg)	ARHGEF26 (L108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313567	NM_015595.4(ARHGEF26):c.323T>C (p.Leu108Pro)	ARHGEF26 (L108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129228	NM_015595.4(ARHGEF26):c.349C>A (p.Pro117Thr)	ARHGEF26 (P117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553884	NM_015595.4(ARHGEF26):c.437C>T (p.Pro146Leu)	ARHGEF26 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313609	NM_015595.4(ARHGEF26):c.439C>G (p.Pro147Ala)	ARHGEF26 (P147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346678	NM_015595.4(ARHGEF26):c.443G>C (p.Arg148Pro)	ARHGEF26 (R148P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384425	NM_015595.4(ARHGEF26):c.445A>C (p.Thr149Pro)	ARHGEF26 (T149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313593	NM_015595.4(ARHGEF26):c.479A>G (p.Glu160Gly)	ARHGEF26 (E160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588735	NM_015595.4(ARHGEF26):c.491G>A (p.Gly164Glu)	ARHGEF26 (G164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469160	NM_015595.4(ARHGEF26):c.515C>T (p.Ser172Leu)	ARHGEF26 (S172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312579	NM_015595.4(ARHGEF26):c.544A>C (p.Asn182His)	ARHGEF26 (N182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287779	NM_015595.4(ARHGEF26):c.553C>A (p.Pro185Thr)	ARHGEF26 (P185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129229	NM_015595.4(ARHGEF26):c.560C>T (p.Ser187Leu)	ARHGEF26 (S187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592857	NM_015595.4(ARHGEF26):c.602G>A (p.Gly201Glu)	ARHGEF26 (G201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296958	NM_015595.4(ARHGEF26):c.631T>G (p.Ser211Ala)	ARHGEF26 (S211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315194	NM_015595.4(ARHGEF26):c.632C>T (p.Ser211Leu)	ARHGEF26 (S211L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2561654	NM_015595.4(ARHGEF26):c.668A>G (p.Gln223Arg)	ARHGEF26 (Q223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517979	NM_015595.4(ARHGEF26):c.668A>T (p.Gln223Leu)	ARHGEF26 (Q223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596095	NM_015595.4(ARHGEF26):c.725C>T (p.Ala242Val)	ARHGEF26 (A242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313585	NM_015595.4(ARHGEF26):c.797A>G (p.Asn266Ser)	ARHGEF26 (N266S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129232	NM_015595.4(ARHGEF26):c.826C>T (p.Leu276Phe)	ARHGEF26 (L276F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129234	NM_015595.4(ARHGEF26):c.986G>T (p.Ser329Ile)	ARHGEF26 (S329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689707	NM_015595.4(ARHGEF26):c.999GAA[3] (p.Lys336del)	ARHGEF26 (K336del)	Microsatellite (inframe_deletion)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 2243196	NM_015595.4(ARHGEF26):c.1025C>G (p.Pro342Arg)	ARHGEF26 (P342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313645	NM_015595.4(ARHGEF26):c.1042A>G (p.Met348Val)	ARHGEF26 (M348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458968	NM_015595.4(ARHGEF26):c.1052A>G (p.Lys351Arg)	ARHGEF26 (K351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611482	NM_015595.4(ARHGEF26):c.1058A>C (p.Lys353Thr)	ARHGEF26 (K353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129218	NM_015595.4(ARHGEF26):c.1175C>G (p.Ser392Cys)	ARHGEF26 (S392C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319131	NM_015595.4(ARHGEF26):c.1216A>G (p.Lys406Glu)	ARHGEF26 (K406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247562	NM_015595.4(ARHGEF26):c.1252T>C (p.Trp418Arg)	ARHGEF26 (W418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129219	NM_015595.4(ARHGEF26):c.1258C>G (p.Gln420Glu)	ARHGEF26 (Q420E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269399	NM_015595.4(ARHGEF26):c.1260A>T (p.Gln420His)	ARHGEF26 (Q420H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129221	NM_015595.4(ARHGEF26):c.1364T>C (p.Leu455Ser)	ARHGEF26 (L455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305964	NM_015595.4(ARHGEF26):c.1381T>A (p.Leu461Met)	ARHGEF26 (L461M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240700	NM_015595.4(ARHGEF26):c.1474G>A (p.Glu492Lys)	ARHGEF26 (E492K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129222	NM_015595.4(ARHGEF26):c.1531A>T (p.Ile511Leu)	ARHGEF26 (I511L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521020	NM_015595.4(ARHGEF26):c.1550T>C (p.Ile517Thr)	ARHGEF26 (I517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554227	NM_015595.4(ARHGEF26):c.1622G>A (p.Arg541Gln)	ARHGEF26 (R541Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129223	NM_015595.4(ARHGEF26):c.1708C>G (p.Pro570Ala)	ARHGEF26 (P570A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315744	NM_015595.4(ARHGEF26):c.1711A>T (p.Met571Leu)	ARHGEF26 (M571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129224	NM_015595.4(ARHGEF26):c.1765A>T (p.Met589Leu)	ARHGEF26 (M589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531139	NM_015595.4(ARHGEF26):c.1802C>T (p.Pro601Leu)	ARHGEF26 (P601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129225	NM_015595.4(ARHGEF26):c.1820A>G (p.Lys607Arg)	ARHGEF26 (K607R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359233	NM_015595.4(ARHGEF26):c.1874G>A (p.Arg625Gln)	ARHGEF26 (R625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332872	NM_015595.4(ARHGEF26):c.1930A>G (p.Ile644Val)	ARHGEF26 (I644V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346208	NM_015595.4(ARHGEF26):c.2025G>T (p.Arg675Ser)	ARHGEF26 (R675S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263357	NM_015595.4(ARHGEF26):c.2040A>C (p.Gln680His)	ARHGEF26 (Q680H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292522	NM_015595.4(ARHGEF26):c.2083A>C (p.Lys695Gln)	ARHGEF26 (K695Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283480	NM_015595.4(ARHGEF26):c.2087A>G (p.Lys696Arg)	ARHGEF26 (K696R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313578	NM_015595.4(ARHGEF26):c.2228A>G (p.His743Arg)	ARHGEF26 (H743R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617217	NM_015595.4(ARHGEF26):c.2297C>T (p.Thr766Met)	ARHGEF26 (T766M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356408	NM_015595.4(ARHGEF26):c.2305G>A (p.Glu769Lys)	ARHGEF26 (E769K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610788	NM_015595.4(ARHGEF26):c.2309G>A (p.Arg770Gln)	ARHGEF26 (R770Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591303	NM_015595.4(ARHGEF26):c.2344G>A (p.Gly782Arg)	ARHGEF26 (G782R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313637	NM_015595.4(ARHGEF26):c.2388C>G (p.Ile796Met)	ARHGEF26 (I796M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608947	NM_015595.4(ARHGEF26):c.2447T>G (p.Val816Gly)	ARHGEF26 (V816G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358671	NM_015595.4(ARHGEF26):c.2498G>A (p.Arg833Gln)	ARHGEF26 (R833Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527045	GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718)	AADAC, AADACL2 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 562829	GRCh37/hg19 3q25.2(chr3:153774569-153845137)x1	ARHGEF26	Copy number loss	not provided	GUncertain significance
Select item 562828	GRCh37/hg19 3q25.2(chr3:153571286-153915723)x1	ARHGEF26	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 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: 87