ClinVar for Gene (Select 27237) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3025292	NM_014448.4(ARHGEF16):c.1735G>A (p.Val579Met)	ARHGEF16 (V579M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685288	GRCh37/hg19 1p36.32(chr1:2694517-4317372)x1	ACTRT2, ARHGEF16 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2611072	NM_014448.4(ARHGEF16):c.1247T>C (p.Met416Thr)	ARHGEF16 (M416T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596239	NM_014448.4(ARHGEF16):c.52C>T (p.Arg18Cys)	ARHGEF16 (R18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594629	NM_014448.4(ARHGEF16):c.1099G>A (p.Ala367Thr)	ARHGEF16 (A367T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591140	NM_014448.4(ARHGEF16):c.910A>G (p.Ser304Gly)	ARHGEF16 (S304G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	AJAP1, ACOT7 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	TMEM88B, TNFRSF14 +79 more	Copy number loss	not provided	GPathogenic
Select item 2561344	NM_014448.4(ARHGEF16):c.866T>C (p.Met289Thr)	ARHGEF16 (M289T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555473	NM_014448.4(ARHGEF16):c.392C>A (p.Ser131Tyr)	ARHGEF16 (S131Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541304	NM_014448.4(ARHGEF16):c.842A>G (p.Glu281Gly)	ARHGEF16 (E281G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538689	NM_014448.4(ARHGEF16):c.1477C>T (p.Leu493Phe)	ARHGEF16 (L493F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533138	NM_014448.4(ARHGEF16):c.2018A>T (p.Asp673Val)	ARHGEF16 (D673V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528083	NM_014448.4(ARHGEF16):c.1877C>G (p.Ser626Cys)	ARHGEF16 (S626C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524233	NM_014448.4(ARHGEF16):c.893C>T (p.Ser298Phe)	ARHGEF16 (S298F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521952	NM_014448.4(ARHGEF16):c.1723C>T (p.Arg575Cys)	ARHGEF16 (R575C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517748	NM_014448.4(ARHGEF16):c.1046G>A (p.Arg349Gln)	ARHGEF16 (R349Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511286	NM_014448.4(ARHGEF16):c.11G>A (p.Arg4Gln)	ARHGEF16 (R4Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	LOC126805582, LOC126805583 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2490442	NM_014448.4(ARHGEF16):c.85G>C (p.Gly29Arg)	ARHGEF16 (G29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488570	NM_014448.4(ARHGEF16):c.424G>A (p.Gly142Arg)	ARHGEF16 (G142R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469784	NM_014448.4(ARHGEF16):c.1045C>T (p.Arg349Trp)	ARHGEF16 (R349W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468251	NM_014448.4(ARHGEF16):c.53G>A (p.Arg18His)	ARHGEF16 (R18H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466787	NM_014448.4(ARHGEF16):c.770G>A (p.Arg257Gln)	ARHGEF16 (R257Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461798	NM_014448.4(ARHGEF16):c.463C>T (p.Arg155Trp)	ARHGEF16 (R155W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456197	NM_014448.4(ARHGEF16):c.241C>G (p.Leu81Val)	ARHGEF16 (L81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407953	NM_014448.4(ARHGEF16):c.116G>A (p.Arg39His)	ARHGEF16 (R39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405949	NM_014448.4(ARHGEF16):c.1925C>T (p.Ala642Val)	ARHGEF16 (A642V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397225	NM_014448.4(ARHGEF16):c.2054G>A (p.Arg685His)	ARHGEF16 (R685H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394019	NM_014448.4(ARHGEF16):c.949C>T (p.Arg317Trp)	ARHGEF16 (R317W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387847	NM_014448.4(ARHGEF16):c.1496C>G (p.Ser499Cys)	ARHGEF16 (S499C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379685	NM_014448.4(ARHGEF16):c.2020G>A (p.Gly674Arg)	ARHGEF16 (G674R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374341	NM_014448.4(ARHGEF16):c.1435T>C (p.Tyr479His)	ARHGEF16 (Y479H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366253	NM_014448.4(ARHGEF16):c.1783C>G (p.Gln595Glu)	ARHGEF16 (Q595E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350887	NM_014448.4(ARHGEF16):c.1099G>T (p.Ala367Ser)	ARHGEF16 (A367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350406	NM_014448.4(ARHGEF16):c.464G>A (p.Arg155Gln)	ARHGEF16 (R155Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349902	NM_014448.4(ARHGEF16):c.1084A>G (p.Ile362Val)	ARHGEF16 (I362V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318810	NM_014448.4(ARHGEF16):c.1751A>G (p.Gln584Arg)	ARHGEF16 (Q584R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318697	NM_014448.4(ARHGEF16):c.919G>A (p.Val307Met)	ARHGEF16 (V307M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312965	NM_014448.4(ARHGEF16):c.1597G>A (p.Asp533Asn)	ARHGEF16 (D533N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311646	NM_014448.4(ARHGEF16):c.1606G>T (p.Val536Phe)	ARHGEF16 (V536F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258895	NM_014448.4(ARHGEF16):c.1699C>A (p.Leu567Ile)	ARHGEF16 (L567I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243076	NM_014448.4(ARHGEF16):c.2059A>G (p.Ile687Val)	ARHGEF16 (I687V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237951	NM_014448.4(ARHGEF16):c.1193T>C (p.Phe398Ser)	ARHGEF16 (F398S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221051	NM_014448.4(ARHGEF16):c.1838T>C (p.Val613Ala)	ARHGEF16 (V613A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219391	NM_014448.4(ARHGEF16):c.1553G>A (p.Arg518Gln)	ARHGEF16 (R518Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217395	NM_014448.4(ARHGEF16):c.569G>A (p.Arg190Gln)	ARHGEF16 (R190Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209146	NM_014448.4(ARHGEF16):c.884C>T (p.Ser295Leu)	ARHGEF16 (S295L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809004	GRCh37/hg19 1p36.32(chr1:2974212-4408415)x3	ARHGEF16, C1orf174 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808734	GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	ACTRT2, AJAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808375	GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3	C1orf174, ACTRT2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703628	GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	ACAP3, ACTRT2 +76 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	AGRN, MIB2 +74 more	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	AURKAIP1, B3GALT6 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 980932	GRCh37/hg19 1p36.32(chr1:3202162-4143527)x3	ARHGEF16, C1orf174 +11 more	Copy number gain	not provided	GUncertain significance
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	ISG15, SLC35E2A +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 974581	Single allele	ACTRT2, ARHGEF16 +32 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 814048	GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814047	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814046	GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	ACAP3, ACTRT2 +78 more	Copy number loss	not provided	GPathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 782901	NM_014448.4(ARHGEF16):c.954G>A (p.Ala318=)	ARHGEF16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780211	NM_014448.4(ARHGEF16):c.1888+9G>A	ARHGEF16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780210	NM_014448.4(ARHGEF16):c.1640T>C (p.Met547Thr)	ARHGEF16 (M547T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 666432	GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1	FAAP20, ACTRT2 +20 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 638130	GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1	ACTRT2, AJAP1 +23 more	Copy number loss	See cases	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625767	GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	MEGF6, MIB2 +71 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625765	GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	ACTRT2, AJAP1 +41 more	Copy number gain	not provided	GPathogenic
Select item 565066	GRCh37/hg19 1p36.32(chr1:2740166-3647525)x3	TPRG1L, PRDM16 +6 more	Copy number gain	not provided	GUncertain significance
Select item 565062	GRCh37/hg19 1p36.33-36.32(chr1:2190850-3503606)x1	ACTRT2, ARHGEF16 +14 more	Copy number loss	not provided	GPathogenic

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