ClinVar for Gene (Select 115557) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341581	NM_182947.4(ARHGEF25):c.387G>A (p.Glu129=)	ARHGEF25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3313562	NM_182947.4(ARHGEF25):c.151G>T (p.Gly51Cys)	ARHGEF25 (G51C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313555	NM_001111270.3(ARHGEF25):c.45A>G (p.Ile15Met)	ARHGEF25 (I15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313546	NM_182947.4(ARHGEF25):c.1477C>T (p.Arg493Trp)	ARHGEF25 (R493W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313536	NM_182947.4(ARHGEF25):c.263G>A (p.Cys88Tyr)	ARHGEF25 (C88Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313533	NM_182947.4(ARHGEF25):c.1547A>C (p.His516Pro)	ARHGEF25 (H486P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313529	NM_182947.4(ARHGEF25):c.1376A>G (p.Lys459Arg)	ARHGEF25 (K459R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3129217	NM_182947.4(ARHGEF25):c.881G>A (p.Arg294Gln)	ARHGEF25 (R264Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129216	NM_001111270.3(ARHGEF25):c.98G>A (p.Gly33Glu)	ARHGEF25 (G33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129215	NM_001111270.3(ARHGEF25):c.83T>C (p.Leu28Pro)	ARHGEF25 (L28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129214	NM_182947.4(ARHGEF25):c.541C>A (p.Gln181Lys)	ARHGEF25 (Q181K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129213	NM_182947.4(ARHGEF25):c.272T>C (p.Val91Ala)	ARHGEF25 (V130A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129212	NM_182947.4(ARHGEF25):c.215C>A (p.Pro72Gln)	ARHGEF25 (P111Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129211	NM_182947.4(ARHGEF25):c.196C>G (p.Pro66Ala)	ARHGEF25 (P66A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129210	NM_182947.4(ARHGEF25):c.151G>A (p.Gly51Ser)	ARHGEF25 (G51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129209	NM_001111270.3(ARHGEF25):c.202G>T (p.Ala68Ser)	ARHGEF25 (A68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129208	NM_182947.4(ARHGEF25):c.1679C>A (p.Ser560Tyr)	ARHGEF25 (S599Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129207	NM_182947.4(ARHGEF25):c.1555A>G (p.Ile519Val)	ARHGEF25 (I519V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129206	NM_182947.4(ARHGEF25):c.1286G>A (p.Arg429His)	ARHGEF25 (R429H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129205	NM_182947.4(ARHGEF25):c.1141G>A (p.Val381Ile)	ARHGEF25 (V351I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129204	NM_182947.4(ARHGEF25):c.1055A>T (p.Gln352Leu)	ARHGEF25 (Q352L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616811	NM_182947.4(ARHGEF25):c.497G>A (p.Ser166Asn)	ARHGEF25 (S205N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616160	NM_182947.4(ARHGEF25):c.757T>C (p.Cys253Arg)	ARHGEF25 (C253R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611266	NM_182947.4(ARHGEF25):c.1196G>T (p.Arg399Ile)	ARHGEF25 (R399I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608552	NM_001111270.3(ARHGEF25):c.62G>T (p.Gly21Val)	ARHGEF25 (G21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600358	NM_182947.4(ARHGEF25):c.1385C>T (p.Ala462Val)	ARHGEF25 (A462V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557393	NM_001111270.3(ARHGEF25):c.61G>T (p.Gly21Cys)	ARHGEF25 (G21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537423	NM_182947.4(ARHGEF25):c.191C>G (p.Ser64Cys)	ARHGEF25 (S103C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534994	NM_182947.4(ARHGEF25):c.1253G>C (p.Gly418Ala)	ARHGEF25 (G457A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520827	NM_182947.4(ARHGEF25):c.575C>T (p.Ala192Val)	ARHGEF25 (A192V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517793	NM_182947.4(ARHGEF25):c.1130G>A (p.Arg377Gln)	ARHGEF25 (R347Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2473663	NM_182947.4(ARHGEF25):c.1124G>A (p.Arg375Gln)	ARHGEF25 (R375Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467350	NM_182947.4(ARHGEF25):c.406C>A (p.Gln136Lys)	ARHGEF25 (Q175K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462150	NM_182947.4(ARHGEF25):c.1013C>T (p.Thr338Met)	ARHGEF25 (T338M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455275	NM_182947.4(ARHGEF25):c.1210C>T (p.Pro404Ser)	ARHGEF25 (P443S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425252	NC_000012.11:g.(?_57971476)_(58025915_?)dup	ARHGEF25, B4GALNT1 +3 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2369445	NM_182947.4(ARHGEF25):c.404C>T (p.Thr135Met)	ARHGEF25 (T174M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348246	NM_182947.4(ARHGEF25):c.655G>A (p.Asp219Asn)	ARHGEF25 (D258N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331494	NM_182947.4(ARHGEF25):c.245T>C (p.Leu82Ser)	ARHGEF25 (L82S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292042	NM_182947.4(ARHGEF25):c.835G>A (p.Gly279Arg)	ARHGEF25 (G249R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257511	NM_001111270.3(ARHGEF25):c.136G>A (p.Glu46Lys)	ARHGEF25 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226777	NM_182947.4(ARHGEF25):c.995G>A (p.Arg332His)	ARHGEF25 (R302H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224990	NM_182947.4(ARHGEF25):c.769C>T (p.Pro257Ser)	ARHGEF25 (P257S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222711	NM_182947.4(ARHGEF25):c.1279C>A (p.Pro427Thr)	ARHGEF25 (P397T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1410313	NC_000012.11:g.(?_57881874)_(58190366_?)dup	AGAP2, ARHGEF25 +17 more	Duplication	not provided	GUncertain significance
Select item 982196	NM_182947.4(ARHGEF25):c.1327C>T (p.Arg443Cys)	ARHGEF25 (R413C +2 more)	Single nucleotide variant (missense variant +1 more)	Moyamoya angiopathy	GLikely pathogenic
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 768558	NM_182947.4(ARHGEF25):c.1517= (p.Gln506=)	ARHGEF25	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 161847	NM_182947.4(ARHGEF25):c.657-7C>A	ARHGEF25	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60