ARHGEF16[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 58321	GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	ACTRT2, AJAP1 +79 more	Copy number loss	See cases	GPathogenic
Select item 146248	GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3	ACTRT2, ARHGEF16 +29 more	Copy number gain	See cases	GLikely benign
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 148513	GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	ACTRT2, AJAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 147394	GRCh38/hg38 1p36.32(chr1:3319336-3614487)x1	ARHGEF16, LOC105378604 +11 more	Copy number loss	See cases	GUncertain significance
Select item 146047	GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3	ARHGEF16, LOC108281140 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2511286	NM_014448.4(ARHGEF16):c.11G>A (p.Arg4Gln)	ARHGEF16 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596239	NM_014448.4(ARHGEF16):c.52C>T (p.Arg18Cys)	ARHGEF16 (R18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468251	NM_014448.4(ARHGEF16):c.53G>A (p.Arg18His)	ARHGEF16 (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490442	NM_014448.4(ARHGEF16):c.85G>C (p.Gly29Arg)	ARHGEF16 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407953	NM_014448.4(ARHGEF16):c.116G>A (p.Arg39His)	ARHGEF16 (R39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313163	NM_014448.4(ARHGEF16):c.125C>T (p.Pro42Leu)	ARHGEF16 (P42L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456197	NM_014448.4(ARHGEF16):c.241C>G (p.Leu81Val)	ARHGEF16 (L81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129101	NM_014448.4(ARHGEF16):c.296C>T (p.Ala99Val)	ARHGEF16 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129102	NM_014448.4(ARHGEF16):c.355C>T (p.Arg119Trp)	ARHGEF16 (R119W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555473	NM_014448.4(ARHGEF16):c.392C>A (p.Ser131Tyr)	ARHGEF16 (S131Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488570	NM_014448.4(ARHGEF16):c.424G>A (p.Gly142Arg)	ARHGEF16 (G142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461798	NM_014448.4(ARHGEF16):c.463C>T (p.Arg155Trp)	ARHGEF16 (R155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350406	NM_014448.4(ARHGEF16):c.464G>A (p.Arg155Gln)	ARHGEF16 (R155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217395	NM_014448.4(ARHGEF16):c.569G>A (p.Arg190Gln)	ARHGEF16 (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313153	NM_014448.4(ARHGEF16):c.575C>T (p.Pro192Leu)	ARHGEF16 (P192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129103	NM_014448.4(ARHGEF16):c.709G>A (p.Glu237Lys)	ARHGEF16 (E237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129105	NM_014448.4(ARHGEF16):c.719G>C (p.Ser240Thr)	ARHGEF16 (S240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129106	NM_014448.4(ARHGEF16):c.764G>C (p.Ser255Thr)	ARHGEF16 (S255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129107	NM_014448.4(ARHGEF16):c.769C>T (p.Arg257Trp)	ARHGEF16 (R257W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466787	NM_014448.4(ARHGEF16):c.770G>A (p.Arg257Gln)	ARHGEF16 (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313174	NM_014448.4(ARHGEF16):c.799C>T (p.Pro267Ser)	ARHGEF16 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129108	NM_014448.4(ARHGEF16):c.811G>A (p.Glu271Lys)	ARHGEF16 (E271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541304	NM_014448.4(ARHGEF16):c.842A>G (p.Glu281Gly)	ARHGEF16 (E281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561344	NM_014448.4(ARHGEF16):c.866T>C (p.Met289Thr)	ARHGEF16 (M289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129109	NM_014448.4(ARHGEF16):c.871G>A (p.Glu291Lys)	ARHGEF16 (E291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209146	NM_014448.4(ARHGEF16):c.884C>T (p.Ser295Leu)	ARHGEF16 (S295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524233	NM_014448.4(ARHGEF16):c.893C>T (p.Ser298Phe)	ARHGEF16 (S298F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591140	NM_014448.4(ARHGEF16):c.910A>G (p.Ser304Gly)	ARHGEF16 (S304G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318697	NM_014448.4(ARHGEF16):c.919G>A (p.Val307Met)	ARHGEF16 (V307M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394019	NM_014448.4(ARHGEF16):c.949C>T (p.Arg317Trp)	ARHGEF16 (R317W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129111	NM_014448.4(ARHGEF16):c.950G>T (p.Arg317Leu)	ARHGEF16 (R317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782901	NM_014448.4(ARHGEF16):c.954G>A (p.Ala318=)	ARHGEF16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 3129089	NM_014448.4(ARHGEF16):c.1030G>C (p.Glu344Gln)	ARHGEF16 (E344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469784	NM_014448.4(ARHGEF16):c.1045C>T (p.Arg349Trp)	ARHGEF16 (R349W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517748	NM_014448.4(ARHGEF16):c.1046G>A (p.Arg349Gln)	ARHGEF16 (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349902	NM_014448.4(ARHGEF16):c.1084A>G (p.Ile362Val)	ARHGEF16 (I362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594629	NM_014448.4(ARHGEF16):c.1099G>A (p.Ala367Thr)	ARHGEF16 (A367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350887	NM_014448.4(ARHGEF16):c.1099G>T (p.Ala367Ser)	ARHGEF16 (A367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129090	NM_014448.4(ARHGEF16):c.1102G>C (p.Glu368Gln)	ARHGEF16 (E368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237951	NM_014448.4(ARHGEF16):c.1193T>C (p.Phe398Ser)	ARHGEF16 (F398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129091	NM_014448.4(ARHGEF16):c.1196G>A (p.Arg399Gln)	ARHGEF16 (R399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611072	NM_014448.4(ARHGEF16):c.1247T>C (p.Met416Thr)	ARHGEF16 (M416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129092	NM_014448.4(ARHGEF16):c.1378A>C (p.Lys460Gln)	ARHGEF16 (K460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129093	NM_014448.4(ARHGEF16):c.1390C>A (p.Gln464Lys)	ARHGEF16 (Q464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129094	NM_014448.4(ARHGEF16):c.1432A>T (p.Met478Leu)	ARHGEF16 (M478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374341	NM_014448.4(ARHGEF16):c.1435T>C (p.Tyr479His)	ARHGEF16 (Y479H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538689	NM_014448.4(ARHGEF16):c.1477C>T (p.Leu493Phe)	ARHGEF16 (L493F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387847	NM_014448.4(ARHGEF16):c.1496C>G (p.Ser499Cys)	ARHGEF16 (S499C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219391	NM_014448.4(ARHGEF16):c.1553G>A (p.Arg518Gln)	ARHGEF16 (R518Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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