1382[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 103

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 1285068	NM_004056.6(CA8):c.*36-24dup	CA8	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 210555	NM_004056.6(CA8):c.795C>A (p.Gly265=)	CA8	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 3250858	NM_004056.6(CA8):c.774G>A (p.Lys258=)	CA8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1220589	NM_004056.6(CA8):c.739-241A>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280224	NM_004056.6(CA8):c.739-305C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234590	NM_004056.6(CA8):c.738+310_738+311del	CA8 (L253fs)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 1271120	NM_004056.6(CA8):c.738+213C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931983	NM_004056.6(CA8):c.730dup (p.Gln244fs)	CA8 (Q212fs +1 more)	Duplication (frameshift variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GLikely pathogenic
Select item 1757896	NM_004056.6(CA8):c.724A>G (p.Ile242Val)	CA8 (I242V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 29620	NM_004056.6(CA8):c.710G>A (p.Arg237Gln)	CA8 (R237Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GPathogenic
Select item 740049	NM_004056.6(CA8):c.642T>C (p.Asp214=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1753224	NM_004056.6(CA8):c.638G>A (p.Arg213Gln)	CA8 (R213Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1269883	NM_004056.6(CA8):c.576+282A>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296082	NM_004056.6(CA8):c.576+152G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174236	NM_004056.6(CA8):c.576+113G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 588261	NM_004056.6(CA8):c.576+5G>A	CA8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1266112	NM_004056.6(CA8):c.514-113A>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275161	NM_004056.6(CA8):c.514-153C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228305	NM_004056.6(CA8):c.514-169G>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267451	NM_004056.6(CA8):c.513+53C>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1336286	NM_004056.6(CA8):c.513+7G>A	CA8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 810289	NM_004056.6(CA8):c.513+6C>T	CA8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1744046	NM_004056.6(CA8):c.490G>T (p.Ala164Ser)	CA8 (A164S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1879714	NM_004056.6(CA8):c.479C>T (p.Pro160Leu)	CA8 (P160L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 522600	NM_004056.6(CA8):c.475A>T (p.Lys159Ter)	CA8 (K159*)	Single nucleotide variant (nonsense +2 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GLikely pathogenic
Select item 1695231	NM_004056.6(CA8):c.474G>A (p.Gly158=)	CA8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 434555	NM_004056.6(CA8):c.449T>C (p.Phe150Ser)	CA8 (F150S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 810290	NM_004056.6(CA8):c.440C>T (p.Ser147Phe)	CA8 (S147F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1249840	NM_004056.6(CA8):c.418-208T>C	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275439	NM_004056.6(CA8):c.417+822C>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267510	NM_004056.6(CA8):c.417+196C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128541	NM_004056.6(CA8):c.334C>T (p.Leu112=)	CA8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 128540	NM_004056.6(CA8):c.327A>G (p.Glu109=)	CA8	Single nucleotide variant (synonymous variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +2 more	GBenign
Select item 2477229	NM_004056.6(CA8):c.317A>G (p.Gln106Arg)	CA8 (Q106R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1728064	NM_004056.6(CA8):c.313C>T (p.Pro105Ser)	CA8 (P105S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587857	NM_004056.6(CA8):c.309A>G (p.Pro103=)	CA8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 128539	NM_004056.6(CA8):c.299C>T (p.Ser100Leu)	CA8 (S100L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 17604	NM_004056.6(CA8):c.298T>C (p.Ser100Pro)	CA8 (S100P)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GPathogenic
Select item 1260156	NM_004056.6(CA8):c.293-69del	CA8	Deletion (intron variant)	not provided	GBenign
Select item 2517270	NM_004056.6(CA8):c.271G>A (p.Val91Ile)	CA8 (V91I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3335816	NM_004056.6(CA8):c.251A>G (p.Asn84Ser)	CA8 (N84S)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GPathogenic
Select item 3335815	NM_004056.6(CA8):c.232C>T (p.Arg78Ter)	CA8 (R78*)	Single nucleotide variant (nonsense +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GPathogenic
Select item 3136152	NM_004056.6(CA8):c.212C>T (p.Ser71Phe)	CA8 (S71F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589293	NM_004056.6(CA8):c.206G>T (p.Arg69Leu)	CA8 (R69L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557088	NM_004056.6(CA8):c.205C>A (p.Arg69Ser)	CA8 (R69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 747548	NM_004056.6(CA8):c.174G>A (p.Glu58=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257436	NM_004056.6(CA8):c.168A>G (p.Ser56=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1737316	NM_004056.6(CA8):c.101-3T>C	CA8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1253906	NM_004056.6(CA8):c.101-95G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291535	NM_004056.6(CA8):c.101-103C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226001	NM_004056.6(CA8):c.100+237C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272342	NM_004056.6(CA8):c.100+160T>G	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233552	NM_004056.6(CA8):c.100+154T>C	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192673	NM_004056.6(CA8):c.100+85T>C	CA8	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +1 more	GBenign
Select item 1296088	NM_004056.6(CA8):c.100+81C>T	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247146	NM_004056.6(CA8):c.100+37G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228665	NM_004056.6(CA8):c.100+19G>A	CA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1336218	NM_004056.6(CA8):c.100+8G>A	CA8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 560540	NM_004056.6(CA8):c.100+1G>A	CA8	Single nucleotide variant (splice donor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	GLikely pathogenic
Select item 743389	NM_004056.6(CA8):c.81G>A (p.Val27=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 128542	NM_004056.6(CA8):c.66A>G (p.Glu22=)	CA8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 732854	NM_004056.6(CA8):c.42C>T (p.Pro14=)	CA8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1335712	NM_004056.6(CA8):c.41C>G (p.Pro14Arg)	CA8 (P14R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3136153	NM_004056.6(CA8):c.22G>A (p.Glu8Lys)	CA8 (E8K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136154	NM_004056.6(CA8):c.5C>T (p.Ala2Val)	CA8 (A2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1192674	NM_004056.6(CA8):c.-54A>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +1 more	GBenign
Select item 1192675	NM_004056.6(CA8):c.-103T>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 +1 more	GBenign
Select item 1229393	NM_004056.6(CA8):c.-122T>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1239705	NM_004056.6(CA8):c.-137G>C	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1255098	NM_004056.6(CA8):c.-223G>A	CA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1275390	NC_000008.11:g.60281611T>G	CA8	Single nucleotide variant	not provided	GBenign
Select item 1267844	NC_000008.11:g.60281685C>T	CA8	Single nucleotide variant	not provided	GBenign
Select item 3063040	GRCh37/hg19 8q12.1-12.2(chr8:61007747-61901412)x1	CA8, CHD7 +1 more	Copy number loss	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2580343	GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1	ASPH, CA8 +4 more	Copy number loss	CHARGE syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1444678	NC_000008.10:g.(?_61121344)_(62626930_?)dup	ASPH, CA8 +3 more	Duplication	CHARGE syndrome	GUncertain significance
Select item 1341107	GRCh37/hg19 8q12.1(chr8:60961720-61226791)x3	CA8	Copy number gain	not provided	GUncertain significance
Select item 979234	GRCh37/hg19 8q12.1(chr8:60717207-61303622)x3	CA8	Copy number gain	not provided	GUncertain significance
Select item 977789	GRCh37/hg19 8q12.1-12.3(chr8:60026663-63779735)	TOX, CLVS1 +5 more	Copy number gain	duplication 8q12	GLikely pathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2