ClinVar for Gene (Select 94134) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310851	NM_018287.7(ARHGAP12):c.2402A>T (p.Tyr801Phe)	ARHGAP12 (Y754F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310840	NM_018287.7(ARHGAP12):c.2027G>C (p.Cys676Ser)	ARHGAP12 (C629S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310830	NM_018287.7(ARHGAP12):c.413C>G (p.Pro138Arg)	ARHGAP12 (P138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310819	NM_018287.7(ARHGAP12):c.884C>G (p.Pro295Arg)	ARHGAP12 (P295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310808	NM_018287.7(ARHGAP12):c.2372T>C (p.Ile791Thr)	ARHGAP12 (I739T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310798	NM_018287.7(ARHGAP12):c.343A>G (p.Ser115Gly)	ARHGAP12 (S115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310780	NM_018287.7(ARHGAP12):c.1970A>G (p.Asn657Ser)	ARHGAP12 (N627S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310764	NM_018287.7(ARHGAP12):c.1720A>G (p.Ile574Val)	ARHGAP12 (I527V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128516	NM_018287.7(ARHGAP12):c.985T>C (p.Tyr329His)	ARHGAP12 (Y329H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128515	NM_018287.7(ARHGAP12):c.932A>C (p.Asn311Thr)	ARHGAP12 (N311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128514	NM_018287.7(ARHGAP12):c.590A>G (p.Gln197Arg)	ARHGAP12 (Q197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128512	NM_018287.7(ARHGAP12):c.488C>T (p.Ser163Leu)	ARHGAP12 (S163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128511	NM_018287.7(ARHGAP12):c.386T>C (p.Ile129Thr)	ARHGAP12 (I129T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128509	NM_018287.7(ARHGAP12):c.2442A>T (p.Lys814Asn)	ARHGAP12 (K737N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128508	NM_018287.7(ARHGAP12):c.2297A>T (p.Lys766Met)	ARHGAP12 (K719M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128507	NM_018287.7(ARHGAP12):c.1889T>C (p.Leu630Ser)	ARHGAP12 (L600S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128506	NM_018287.7(ARHGAP12):c.1678G>A (p.Asp560Asn)	ARHGAP12 (D555N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128505	NM_018287.7(ARHGAP12):c.1643G>A (p.Arg548His)	ARHGAP12 (R496H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128504	NM_018287.7(ARHGAP12):c.1159G>A (p.Glu387Lys)	ARHGAP12 (E340K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128503	NM_018287.7(ARHGAP12):c.1127A>G (p.Tyr376Cys)	ARHGAP12 (Y376C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128502	NM_018287.7(ARHGAP12):c.1066A>G (p.Thr356Ala)	ARHGAP12 (T356A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063139	GRCh37/hg19 10p11.22(chr10:31639424-32202819)x3	ARHGAP12, ZEB1	Copy number gain	not specified	GUncertain significance
Select item 2603675	NM_018287.7(ARHGAP12):c.1783A>G (p.Ile595Val)	ARHGAP12 (I543V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601178	NM_018287.7(ARHGAP12):c.1676A>G (p.Asn559Ser)	ARHGAP12 (N512S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2564434	NM_018287.7(ARHGAP12):c.1373C>T (p.Ala458Val)	ARHGAP12 (A411V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559514	NM_018287.7(ARHGAP12):c.1084G>A (p.Glu362Lys)	ARHGAP12 (E362K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523010	NM_018287.7(ARHGAP12):c.1708C>T (p.Leu570Phe)	ARHGAP12 (L518F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475951	NM_018287.7(ARHGAP12):c.1178C>T (p.Ala393Val)	ARHGAP12 (A346V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459160	NM_018287.7(ARHGAP12):c.575G>T (p.Ser192Ile)	ARHGAP12 (S192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457330	NM_018287.7(ARHGAP12):c.524G>A (p.Arg175His)	ARHGAP12 (R175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410631	NM_018287.7(ARHGAP12):c.2282G>A (p.Arg761Gln)	ARHGAP12 (R684Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382976	NM_018287.7(ARHGAP12):c.788C>T (p.Pro263Leu)	ARHGAP12 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377790	NM_018287.7(ARHGAP12):c.2243A>T (p.Asn748Ile)	ARHGAP12 (N701I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376174	NM_018287.7(ARHGAP12):c.1472C>T (p.Ala491Val)	ARHGAP12 (A439V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368243	NM_018287.7(ARHGAP12):c.2536C>T (p.Arg846Cys)	ARHGAP12 (R841C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362191	NM_018287.7(ARHGAP12):c.1540A>C (p.Asn514His)	ARHGAP12 (N462H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327609	NM_018287.7(ARHGAP12):c.2408G>A (p.Ser803Asn)	ARHGAP12 (S773N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323685	NM_018287.7(ARHGAP12):c.1372G>T (p.Ala458Ser)	ARHGAP12 (A411S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318754	NM_018287.7(ARHGAP12):c.43G>A (p.Val15Met)	ARHGAP12 (V15M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305584	NM_018287.7(ARHGAP12):c.371A>G (p.Gln124Arg)	ARHGAP12 (Q124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282221	NM_018287.7(ARHGAP12):c.355C>G (p.Pro119Ala)	ARHGAP12 (P119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271612	NM_018287.7(ARHGAP12):c.398A>G (p.Asn133Ser)	ARHGAP12 (N133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217407	NM_018287.7(ARHGAP12):c.1205T>C (p.Ile402Thr)	ARHGAP12 (I355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216257	NM_018287.7(ARHGAP12):c.274A>C (p.Thr92Pro)	ARHGAP12 (T92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205453	NM_018287.7(ARHGAP12):c.359C>T (p.Ser120Leu)	ARHGAP12 (S120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205115	NM_018287.7(ARHGAP12):c.527C>T (p.Ser176Leu)	ARHGAP12 (S176L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2203938	NM_018287.7(ARHGAP12):c.1642C>T (p.Arg548Cys)	ARHGAP12 (R548C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1328108	GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)x1	ARHGAP12, CCDC7 +9 more	Copy number loss	not provided	GPathogenic
Select item 815329	GRCh37/hg19 10p11.22(chr10:31548044-32172367)x3	ARHGAP12, ZEB1	Copy number gain	not provided	GUncertain significance
Select item 781939	NM_018287.7(ARHGAP12):c.16A>C (p.Arg6=)	ARHGAP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563765	GRCh37/hg19 10p11.22(chr10:31425682-32599180)x1	KIF5B, ZEB1 +2 more	Copy number loss	not provided	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 61