ARHGAP25[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 3128670	NM_001007231.3(ARHGAP25):c.100G>A (p.Ala34Thr)	ARHGAP25 (A34T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369157	NM_001007231.3(ARHGAP25):c.113C>T (p.Ser38Leu)	ARHGAP25 (S31L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128675	NM_001007231.3(ARHGAP25):c.229T>C (p.Tyr77His)	ARHGAP25 (Y51H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311330	NM_001007231.3(ARHGAP25):c.268A>G (p.Met90Val)	ARHGAP25 (M83V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275620	NM_001007231.3(ARHGAP25):c.277C>G (p.Pro93Ala)	ARHGAP25 (P67A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128676	NM_001007231.3(ARHGAP25):c.301G>A (p.Ala101Thr)	ARHGAP25 (A101T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524219	NM_001007231.3(ARHGAP25):c.482G>A (p.Arg161His)	ARHGAP25 (R160H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128677	NM_001007231.3(ARHGAP25):c.544G>A (p.Glu182Lys)	ARHGAP25 (E181K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507570	NM_001007231.3(ARHGAP25):c.658C>T (p.Arg220Trp)	ARHGAP25 (R194W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720549	NM_001007231.3(ARHGAP25):c.675-8T>C	ARHGAP25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2560022	NM_001007231.3(ARHGAP25):c.736C>T (p.Pro246Ser)	ARHGAP25 (P207S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357768	NM_001007231.3(ARHGAP25):c.760G>A (p.Glu254Lys)	ARHGAP25 (E214K +6 more)	Single nucleotide variant (missense variant)	ARHGAP25-related condition	GLikely benign
Select item 2514489	NM_001007231.3(ARHGAP25):c.763G>A (p.Gly255Arg)	ARHGAP25 (G248R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256633	NM_001007231.3(ARHGAP25):c.801G>C (p.Glu267Asp)	ARHGAP25 (E228D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589357	NM_001007231.3(ARHGAP25):c.838A>G (p.Ile280Val)	ARHGAP25 (I272V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395093	NM_001007231.3(ARHGAP25):c.848G>A (p.Arg283His)	ARHGAP25 (R244H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128671	NM_001007231.3(ARHGAP25):c.1034T>G (p.Met345Arg)	ARHGAP25 (M319R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350491	NM_001007231.3(ARHGAP25):c.1065C>G (p.Pro355=)	ARHGAP25	Single nucleotide variant (synonymous variant)	ARHGAP25-related condition	GLikely benign
Select item 2397478	NM_001007231.3(ARHGAP25):c.1081C>A (p.Pro361Thr)	ARHGAP25 (P321T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128672	NM_001007231.3(ARHGAP25):c.1119A>T (p.Lys373Asn)	ARHGAP25 (K333N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311309	NM_001007231.3(ARHGAP25):c.1231G>A (p.Gly411Arg)	ARHGAP25 (G385R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720550	NM_001007231.3(ARHGAP25):c.1251G>A (p.Ala417=)	ARHGAP25	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2359684	NM_001007231.3(ARHGAP25):c.1267A>G (p.Ser423Gly)	ARHGAP25 (S383G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128673	NM_001007231.3(ARHGAP25):c.1415C>T (p.Ser472Leu)	ARHGAP25 (S432L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785966	NM_001007231.3(ARHGAP25):c.1458G>A (p.Thr486=)	ARHGAP25	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128674	NM_001007231.3(ARHGAP25):c.1487A>T (p.Asp496Val)	ARHGAP25 (D488V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307251	NM_001007231.3(ARHGAP25):c.1495C>T (p.Arg499Trp)	ARHGAP25 (R460W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384393	NM_001007231.3(ARHGAP25):c.1496G>A (p.Arg499Gln)	ARHGAP25 (R499Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311320	NM_001007231.3(ARHGAP25):c.1498A>G (p.Thr500Ala)	ARHGAP25 (T460A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311298	NM_001007231.3(ARHGAP25):c.1549G>A (p.Ala517Thr)	ARHGAP25 (A510T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455867	NM_001007231.3(ARHGAP25):c.1600A>C (p.Ser534Arg)	ARHGAP25 (S508R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287356	NM_001007231.3(ARHGAP25):c.1619G>A (p.Gly540Glu)	ARHGAP25 (G532E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471778	NM_001007231.3(ARHGAP25):c.1634A>G (p.Asn545Ser)	ARHGAP25 (N538S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311339	NM_001007231.3(ARHGAP25):c.1642G>A (p.Glu548Lys)	ARHGAP25 (E522K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285529	NM_001007231.3(ARHGAP25):c.1702C>G (p.Gln568Glu)	ARHGAP25 (Q529E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328079	NM_001007231.3(ARHGAP25):c.1834C>T (p.Arg612Cys)	ARHGAP25, LINC01890 (R611C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594568	NM_001007231.3(ARHGAP25):c.1835G>A (p.Arg612His)	ARHGAP25, LINC01890 (R572H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 625545	GRCh37/hg19 2p14-13.3(chr2:67491378-69679404)	ANTXR1, APLF +15 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 49