ARHGAP10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 153740	GRCh38/hg38 4q31.22-31.23(chr4:147172571-147792924)x3	ARHGAP10, EDNRA +19 more	Copy number gain	See cases	GUncertain significance
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146056	GRCh38/hg38 4q31.22-31.23(chr4:147396786-147788662)x3	ARHGAP10, EDNRA +17 more	Copy number gain	See cases	GUncertain significance
Select item 1707449	Single allele	ARHGAP10, EDNRA +21 more	Duplication	not specified	GUncertain significance
Select item 145601	GRCh38/hg38 4q31.23(chr4:147598674-147996432)x3	ARHGAP10, LOC126807184 +15 more	Copy number gain	See cases	GLikely benign
Select item 2330499	NM_024605.4(ARHGAP10):c.134A>G (p.Asn45Ser)	ARHGAP10 (N45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477323	NM_024605.4(ARHGAP10):c.169C>A (p.Gln57Lys)	ARHGAP10 (Q57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347603	NM_024605.4(ARHGAP10):c.197A>G (p.Asp66Gly)	ARHGAP10 (D66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655115	NM_024605.4(ARHGAP10):c.251-3C>T	ARHGAP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2382822	NM_024605.4(ARHGAP10):c.322G>A (p.Val108Ile)	ARHGAP10 (V108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495210	NM_024605.4(ARHGAP10):c.328G>A (p.Glu110Lys)	ARHGAP10 (E110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485464	NM_024605.4(ARHGAP10):c.348G>T (p.Leu116Phe)	ARHGAP10 (L116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128475	NM_024605.4(ARHGAP10):c.511C>T (p.Arg171Trp)	ARHGAP10 (R171W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532917	NM_024605.4(ARHGAP10):c.596C>T (p.Pro199Leu)	ARHGAP10 (P199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539158	NM_024605.4(ARHGAP10):c.664A>G (p.Asn222Asp)	ARHGAP10 (N222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870152	NM_024605.4(ARHGAP10):c.665A>G (p.Asn222Ser)	ARHGAP10 (N222S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 3128476	NM_024605.4(ARHGAP10):c.713G>T (p.Arg238Leu)	ARHGAP10 (R238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 120311	NM_024605.4(ARHGAP10):c.716T>A (p.Phe239Tyr)	ARHGAP10 (F239Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 717842	NM_024605.4(ARHGAP10):c.729G>A (p.Arg243=)	ARHGAP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 120312	NM_024605.4(ARHGAP10):c.822C>T (p.Val274=)	ARHGAP10	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3128477	NM_024605.4(ARHGAP10):c.859G>A (p.Val287Ile)	ARHGAP10 (V287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350150	NM_024605.4(ARHGAP10):c.881G>A (p.Arg294Gln)	ARHGAP10 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310671	NM_024605.4(ARHGAP10):c.935A>T (p.Lys312Ile)	ARHGAP10 (K312I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311873	NM_024605.4(ARHGAP10):c.946G>A (p.Gly316Arg)	ARHGAP10 (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655116	NM_024605.4(ARHGAP10):c.978G>A (p.Lys326=)	ARHGAP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519985	NM_024605.4(ARHGAP10):c.995T>C (p.Ile332Thr)	ARHGAP10 (I332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290860	NM_024605.4(ARHGAP10):c.1039G>A (p.Gly347Ser)	ARHGAP10 (G347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655117	NM_024605.4(ARHGAP10):c.1041C>T (p.Gly347=)	ARHGAP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128465	NM_024605.4(ARHGAP10):c.1042G>A (p.Val348Ile)	ARHGAP10 (V348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514074	NM_024605.4(ARHGAP10):c.1069G>A (p.Glu357Lys)	ARHGAP10 (E357K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128466	NM_024605.4(ARHGAP10):c.1085A>G (p.Gln362Arg)	ARHGAP10 (Q362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128467	NM_024605.4(ARHGAP10):c.1096G>A (p.Ala366Thr)	ARHGAP10 (A366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 120313	NM_024605.4(ARHGAP10):c.1116+21A>G	ARHGAP10	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2466590	NM_024605.4(ARHGAP10):c.1136C>T (p.Thr379Ile)	ARHGAP10 (T379I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128468	NM_024605.4(ARHGAP10):c.1141A>G (p.Ile381Val)	ARHGAP10 (I381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513358	NM_024605.4(ARHGAP10):c.1192A>G (p.Ile398Val)	ARHGAP10 (I398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308372	NM_024605.4(ARHGAP10):c.1194T>G (p.Ile398Met)	ARHGAP10 (I398M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788783	NM_024605.4(ARHGAP10):c.1215C>T (p.Ala405=)	ARHGAP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 152886	GRCh38/hg38 4q31.23(chr4:147920951-148356485)x1	ARHGAP10, LOC110121259 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 2541993	NM_024605.4(ARHGAP10):c.1329C>A (p.Asp443Glu)	ARHGAP10 (D443E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530117	NM_024605.4(ARHGAP10):c.1411A>G (p.Met471Val)	ARHGAP10 (M471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713457	NM_024605.4(ARHGAP10):c.1461C>T (p.Ser487=)	ARHGAP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 120314	NM_024605.4(ARHGAP10):c.1468T>C (p.Ser490Pro)	ARHGAP10 (S490P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3128469	NM_024605.4(ARHGAP10):c.1472G>C (p.Arg491Pro)	ARHGAP10 (R491P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128470	NM_024605.4(ARHGAP10):c.1723C>T (p.Arg575Trp)	ARHGAP10 (R575W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455735	NM_024605.4(ARHGAP10):c.1724G>A (p.Arg575Gln)	ARHGAP10 (R575Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288900	NM_024605.4(ARHGAP10):c.1777C>A (p.Pro593Thr)	ARHGAP10 (P593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256241	NM_024605.4(ARHGAP10):c.1780A>T (p.Asn594Tyr)	ARHGAP10 (N594Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269152	NM_024605.4(ARHGAP10):c.1811G>A (p.Gly604Asp)	ARHGAP10 (G604D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791987	NM_024605.4(ARHGAP10):c.1842C>T (p.Tyr614=)	ARHGAP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2228820	NM_024605.4(ARHGAP10):c.1876C>A (p.Pro626Thr)	ARHGAP10 (P626T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407963	NM_024605.4(ARHGAP10):c.1948G>C (p.Ala650Pro)	ARHGAP10 (A650P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325318	NM_024605.4(ARHGAP10):c.2012A>G (p.Asp671Gly)	ARHGAP10 (D671G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720467	NM_024605.4(ARHGAP10):c.2026A>G (p.Ile676Val)	ARHGAP10 (I676V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2382502	NM_024605.4(ARHGAP10):c.2045C>G (p.Ser682Trp)	ARHGAP10 (S682W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321907	NM_024605.4(ARHGAP10):c.2122G>C (p.Gly708Arg)	ARHGAP10 (G708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128472	NM_024605.4(ARHGAP10):c.2143T>A (p.Ser715Thr)	ARHGAP10 (S715T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128473	NM_024605.4(ARHGAP10):c.2144C>T (p.Ser715Phe)	ARHGAP10 (S715F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243374	NM_024605.4(ARHGAP10):c.2183T>A (p.Ile728Asn)	ARHGAP10 (I728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255681	NM_024605.4(ARHGAP10):c.2191C>T (p.Arg731Trp)	ARHGAP10 (R731W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354027	NM_024605.4(ARHGAP10):c.2206G>A (p.Val736Met)	ARHGAP10 (V736M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359865	NM_024605.4(ARHGAP10):c.2213C>T (p.Pro738Leu)	ARHGAP10 (P738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 120315	NM_024605.4(ARHGAP10):c.2228A>G (p.His743Arg)	ARHGAP10 (H743R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2487633	NM_024605.4(ARHGAP10):c.2321A>C (p.Lys774Thr)	ARHGAP10 (K774T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128474	NM_024605.4(ARHGAP10):c.2347G>A (p.Val783Ile)	ARHGAP10 (V783I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062798	GRCh37/hg19 4q31.22-31.23(chr4:148012359-149767130)x3	ARHGAP10, EDNRA +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685993	GRCh37/hg19 4q31.22-31.23(chr4:148093724-148665652)x3	ARHGAP10, EDNRA +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1808370	GRCh37/hg19 4q31.23(chr4:148734569-148860556)x1	ARHGAP10	Copy number loss	not provided	GUncertain significance
Select item 1527129	GRCh37/hg19 4q31.22-31.23(chr4:148378902-148750802)	ARHGAP10, EDNRA +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527128	GRCh37/hg19 4q31.22-31.23(chr4:148011767-148800454)	ARHGAP10, EDNRA +2 more	Copy number gain	not specified	GUncertain significance
Select item 1455428	NC_000004.11:g.(?_146560292)_(149358012_?)del	ARHGAP10, C4orf51 +10 more	Deletion	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 997080	GRCh37/hg19 4q31.23(chr4:148911418-149103259)	ARHGAP10, NR3C2	Copy number loss	Intellectual disability +1 more	GLikely pathogenic
Select item 980696	GRCh37/hg19 4q31.22-31.23(chr4:147148581-149042791)x3	EDNRA, PRMT9 +6 more	Copy number gain	not provided	GUncertain significance
Select item 813886	GRCh37/hg19 4q31.22-31.23(chr4:148317938-148933250)x3	EDNRA, ARHGAP10 +2 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	ARHGAP10, C4orf51 +11 more	Copy number loss	not provided	GPathogenic
Select item 562975	GRCh37/hg19 4q31.23(chr4:148916436-149103774)x1	NR3C2, ARHGAP10	Copy number loss	not provided	GLikely pathogenic
Select item 562974	GRCh37/hg19 4q31.23(chr4:148765966-148840301)x1	ARHGAP10	Copy number loss	not provided	GUncertain significance
Select item 562973	GRCh37/hg19 4q31.22-31.23(chr4:148313009-148950412)x3	PRMT9, ARHGAP10 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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