9639[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GPathogenic
Select item 155587	GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1	ARHGEF10, CLN8 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154744	GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1	ARHGEF10, CLN8 +69 more	Copy number loss	See cases	GUncertain significance
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 152253	GRCh38/hg38 8p23.3(chr8:226452-2017223)x1	ARHGEF10, CLN8 +48 more	Copy number loss	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	LOC126860267, LOC126860268 +126 more	Copy number loss	See cases	GPathogenic
Select item 150139	GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1	ARHGEF10, CLN8 +59 more	Copy number loss	See cases	GUncertain significance
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148183	GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GLikely pathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147569	GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	DEFA6, DEFB1 +123 more	Copy number gain	See cases	GPathogenic
Select item 145578	GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 60342	GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	LOC132089596, LOC132089598 +123 more	Copy number gain	See cases	GPathogenic
Select item 161035	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 32497	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 148126	GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3	AGPAT5, ANGPT2 +161 more	Copy number gain	See cases	GBenign
Select item 60346	GRCh38/hg38 8p23.3(chr8:1739267-1891412)x1	ARHGEF10, CLN8 +7 more	Copy number loss	See cases	GPathogenic
Select item 152778	GRCh38/hg38 8p23.3(chr8:1786547-1944616)x3	ARHGEF10, CLN8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 152794	GRCh38/hg38 8p23.3(chr8:1822990-1874458)x3	ARHGEF10, LOC126860279	Copy number gain	See cases	GUncertain significance
Select item 1244753	NM_014629.4(ARHGEF10):c.-47-86C>T	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176524	NM_014629.4(ARHGEF10):c.25C>A (p.Pro9Thr)	ARHGEF10, LOC126860279 (P33T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058349	NM_014629.4(ARHGEF10):c.37+5C>T	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	ARHGEF10-related disorder	GLikely benign
Select item 1292938	NM_014629.4(ARHGEF10):c.37+36T>G	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288449	NM_014629.4(ARHGEF10):c.37+60C>T	LOC126860279, ARHGEF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270288	NM_014629.4(ARHGEF10):c.37+61G>A	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279597	NM_014629.4(ARHGEF10):c.37+70C>T	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226697	NM_014629.4(ARHGEF10):c.37+83A>G	ARHGEF10, LOC126860279	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182419	NM_014629.4(ARHGEF10):c.38-146T>C	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292883	NM_014629.4(ARHGEF10):c.38-89GATC[2]	ARHGEF10	Microsatellite (intron variant)	not provided	GBenign
Select item 1229075	NM_014629.4(ARHGEF10):c.38-82_38-81insTATC	ARHGEF10	Insertion (intron variant)	not provided	GBenign
Select item 1266357	NM_014629.4(ARHGEF10):c.38-81_38-70del	ARHGEF10	Deletion (intron variant)	not provided	GBenign
Select item 1249869	NM_014629.4(ARHGEF10):c.38-81_38-74del	ARHGEF10	Deletion (intron variant)	not provided	GBenign
Select item 1292935	NM_014629.4(ARHGEF10):c.38-81G>T	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234829	NM_014629.4(ARHGEF10):c.38-80ATCT[13]	ARHGEF10	Microsatellite (intron variant)	not provided	GBenign
Select item 1296031	NM_014629.4(ARHGEF10):c.38-80ATCT[11]	ARHGEF10	Microsatellite (intron variant)	not provided	GBenign
Select item 708928	NM_014629.4(ARHGEF10):c.38-8_38-4del	ARHGEF10	Deletion (intron variant)	ARHGEF10-related disorder +1 more	GBenign
Select item 439416	NM_014629.4(ARHGEF10):c.38-10T>C	ARHGEF10	Single nucleotide variant (intron variant)	Autosomal dominant slowed nerve conduction velocity +1 more	GBenign/Likely benign
Select item 782030	NM_014629.4(ARHGEF10):c.38-9T>A	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770017	NM_014629.4(ARHGEF10):c.50A>G (p.Lys17Arg)	ARHGEF10 (K17R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483093	NM_014629.4(ARHGEF10):c.55G>T (p.Asp19Tyr)	ARHGEF10 (D19Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839773	NM_014629.4(ARHGEF10):c.74A>G (p.Glu25Gly)	ARHGEF10 (E49G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011332	NM_014629.4(ARHGEF10):c.76G>C (p.Glu26Gln)	ARHGEF10 (E26Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2989591	NM_014629.4(ARHGEF10):c.83G>C (p.Gly28Ala)	ARHGEF10 (G52A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636647	NM_014629.4(ARHGEF10):c.93C>T (p.Phe31=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357603	NM_014629.4(ARHGEF10):c.110A>G (p.Asp37Gly)	ARHGEF10 (D37G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031837	NM_014629.4(ARHGEF10):c.121G>T (p.Glu41Ter)	ARHGEF10 (E65* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 2150296	NM_014629.4(ARHGEF10):c.125C>T (p.Ala42Val)	ARHGEF10 (A42V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1895973	NM_014629.4(ARHGEF10):c.126G>A (p.Ala42=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 453261	NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)	ARHGEF10 (Q45* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant slowed nerve conduction velocity	GUncertain significance
Select item 2893997	NM_014629.4(ARHGEF10):c.138C>G (p.Ala46=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3312807	NM_014629.4(ARHGEF10):c.139C>A (p.Pro47Thr)	ARHGEF10 (P47T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2886368	NM_014629.4(ARHGEF10):c.139C>T (p.Pro47Ser)	ARHGEF10 (P71S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522266	NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=)	ARHGEF10	Single nucleotide variant (synonymous variant)	ARHGEF10-related disorder +2 more	GBenign
Select item 2903649	NM_014629.4(ARHGEF10):c.145G>A (p.Ala49Thr)	ARHGEF10 (A73T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176256	NM_014629.4(ARHGEF10):c.151G>A (p.Glu51Lys)	ARHGEF10 (E51K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910759	NM_014629.4(ARHGEF10):c.160G>A (p.Gly54Ser)	ARHGEF10 (G54S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3058140	NM_014629.4(ARHGEF10):c.162T>G (p.Gly54=)	ARHGEF10	Single nucleotide variant (synonymous variant)	ARHGEF10-related disorder	GLikely benign
Select item 1693966	NM_014629.4(ARHGEF10):c.167G>A (p.Gly56Glu)	ARHGEF10 (G56E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2002997	NM_014629.4(ARHGEF10):c.172A>C (p.Ser58Arg)	ARHGEF10 (S82R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1621830	NM_014629.4(ARHGEF10):c.180C>T (p.Ala60=)	ARHGEF10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 450742	NM_014629.4(ARHGEF10):c.193G>A (p.Gly65Arg)	ARHGEF10 (G65R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020725	NM_014629.4(ARHGEF10):c.193+6T>G	ARHGEF10	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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