2079[HGNC] - 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 423310	NM_018941.4(CLN8):c.-139_-124+21del	CLN8, CLN8-AS1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 553068	NM_018941.4(CLN8):c.-131_-124+13del	CLN8, CLN8-AS1	Deletion (splice donor variant)	Neuronal ceroid lipofuscinosis 8	GUncertain significance
Select item 418138	NM_018941.4(CLN8):c.-125_-124+19dup	CLN8, CLN8-AS1	Duplication (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1293653	NM_018941.4(CLN8):c.-129G>T	CLN8, CLN8-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 136808	NM_018941.4(CLN8):c.-126C>T	CLN8, CLN8-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 511987	NM_018941.4(CLN8):c.-124+7G>A	CLN8, CLN8-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1251030	NM_018941.4(CLN8):c.-124+113G>A	CLN8, CLN8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669706	NM_018941.4(CLN8):c.-123-328C>G	CLN8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279902	NM_018941.4(CLN8):c.-123-225G>C	CLN8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181243	NM_018941.4(CLN8):c.-123-127C>T	CLN8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136805	NM_018941.4(CLN8):c.-123-4T>C	CLN8	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 553622	NM_018941.4(CLN8):c.-123-1G>C	CLN8	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 8	GUncertain significance
Select item 205187	NM_018941.4(CLN8):c.-122T>G	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515035	NM_018941.4(CLN8):c.-121T>A	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 377697	NM_018941.4(CLN8):c.-120G>A	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506715	NM_018941.4(CLN8):c.-116A>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384956	NM_018941.4(CLN8):c.-113G>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1253272	NM_018941.4(CLN8):c.-108G>A	CLN8	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 205188	NM_018941.4(CLN8):c.-46C>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 457934	NC_000008.10:g.(?_1719201)_(1728753_?)dup	CLN8	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 457933	NC_000008.11:g.(?_1771035)_(1780587_?)del	CLN8	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 647473	NC_000008.11:g.(?_1771045)_(1780577_?)del	CLN8	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 205189	NM_018941.4(CLN8):c.-1A>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2749928	NM_018941.4(CLN8):c.1A>T (p.Met1Leu)	CLN8 (M1L)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 487522	NM_018941.4(CLN8):c.1A>G (p.Met1Val)	CLN8 (M1V)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 8 +1 more	GPathogenic
Select item 555468	NM_018941.4(CLN8):c.2T>C (p.Met1Thr)	CLN8 (M1T)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 8	GLikely pathogenic
Select item 2103550	NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)	CLN8 (N2S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 969683	NM_018941.4(CLN8):c.7C>T (p.Pro3Ser)	CLN8 (P3S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1127023	NM_018941.4(CLN8):c.9T>C (p.Pro3=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 195348	NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	CLN8 (A4V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2759339	NM_018941.4(CLN8):c.12G>C (p.Ala4=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1655154	NM_018941.4(CLN8):c.12G>T (p.Ala4=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1143189	NM_018941.4(CLN8):c.12G>A (p.Ala4=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1506915	NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)	CLN8 (S5R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 377698	NM_018941.4(CLN8):c.15C>T (p.Ser5=)	CLN8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1465767	NM_018941.4(CLN8):c.16G>A (p.Asp6Asn)	CLN8 (D6N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 951730	NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr)	CLN8 (D6Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205199	NM_018941.4(CLN8):c.16G>C (p.Asp6His)	CLN8 (D6H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205200	NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)	CLN8 (D6G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 2011509	NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)	CLN8 (D6E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1387519	NM_018941.4(CLN8):c.18T>A (p.Asp6Glu)	CLN8 (D6E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1133975	NM_018941.4(CLN8):c.18T>C (p.Asp6=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 665243	NM_018941.4(CLN8):c.19G>A (p.Gly7Arg)	CLN8 (G7R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2009501	NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)	CLN8 (G7A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1151944	NM_018941.4(CLN8):c.21G>C (p.Gly7=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign

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