10472[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 354

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 60153	GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1	ADSS2, AKT3 +87 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 149180	GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3	ADSS2, AKT3 +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 243062	Single allele	AKT3, AKT3-IT1 +33 more	Deletion	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60156	GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1	ADSS2, AKT3 +70 more	Copy number loss	See cases	GPathogenic
Select item 60157	GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1	ADSS2, AKT3 +73 more	Copy number loss	See cases	GPathogenic
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	LOC126806079, LOC126806080 +119 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 151741	GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3	ADSS2, AKT3 +65 more	Copy number gain	See cases	GUncertain significance
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 154601	GRCh38/hg38 1q43-44(chr1:243145749-244433395)x1	LOC112577566, LOC122152351 +27 more	Copy number loss	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60158	GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1	ADSS2, AKT3 +66 more	Copy number loss	See cases	GPathogenic
Select item 144563	GRCh38/hg38 1q43-44(chr1:243264192-244668463)x1	ADSS2, AKT3 +36 more	Copy number loss	See cases	GPathogenic
Select item 57260	GRCh38/hg38 1q44(chr1:243677224-244923447)x1	ADSS2, AKT3 +44 more	Copy number loss	See cases	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 2579278	GRCh38/hg38 1q44(chr1:244051186-244055631)x1	ZBTB18	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2321278	NM_205768.3(ZBTB18):c.10A>G (p.Lys4Glu)	ZBTB18 (K4E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2048767	NM_205768.3(ZBTB18):c.13+13A>G	ZBTB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741591	NM_205768.3(ZBTB18):c.27T>C (p.Ser9=)	ZBTB18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2579910	NM_205768.3(ZBTB18):c.31G>C (p.Glu11Gln)	ZBTB18 (E11Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429450	NM_205768.3(ZBTB18):c.32A>T (p.Glu11Val)	ZBTB18 (E11V +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GLikely pathogenic
Select item 2428827	NM_205768.3(ZBTB18):c.65G>A (p.Cys22Tyr)	ZBTB18 (C13Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181257	NM_205768.3(ZBTB18):c.72C>T (p.Ser24=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640216	NM_205768.3(ZBTB18):c.75G>A (p.Glu25=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431741	NM_205768.3(ZBTB18):c.80G>C (p.Arg27Thr)	ZBTB18 (R18T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2793518	NM_205768.3(ZBTB18):c.102C>G (p.Asp34Glu)	ZBTB18 (D25E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809925	NM_205768.3(ZBTB18):c.104G>A (p.Cys35Tyr)	ZBTB18 (C26Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225923	NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter)	ZBTB18 (R45* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22 +1 more	GPathogenic
Select item 1311575	NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly)	ZBTB18 (R39G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 431091	NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter)	ZBTB18 (R48* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 728140	NM_205768.3(ZBTB18):c.159A>G (p.Ser53=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224125	NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)	ZBTB18 (C54R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 3025716	NM_205768.3(ZBTB18):c.166A>G (p.Met56Val)	ZBTB18 (M47V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2286857	NM_205768.3(ZBTB18):c.170A>T (p.Tyr57Phe)	ZBTB18 (Y57F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 620412	NM_205768.3(ZBTB18):c.171T>A (p.Tyr57Ter)	ZBTB18 (Y57* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1703227	NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)	ZBTB18 (D61fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 2438638	NM_205768.3(ZBTB18):c.208G>A (p.Asp70Asn)	ZBTB18 (D61N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2771053	NM_205768.3(ZBTB18):c.217C>G (p.His73Asp)	ZBTB18 (H64D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372058	NM_205768.3(ZBTB18):c.228C>A (p.Ser76Arg)	ZBTB18 (S67R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988750	NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)	ZBTB18	Duplication (inframe_insertion +1 more)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 988568	NM_205768.3(ZBTB18):c.246dup (p.Ala83fs)	ZBTB18 (A74fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2124850	NM_205768.3(ZBTB18):c.246C>T (p.Pro82=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722814	NM_205768.3(ZBTB18):c.252C>T (p.Phe84=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867443	NM_205768.3(ZBTB18):c.253G>A (p.Ala85Thr)	ZBTB18 (A85T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313296	NM_205768.3(ZBTB18):c.263T>C (p.Leu88Pro)	ZBTB18 (L79P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331622	NM_205768.3(ZBTB18):c.299A>G (p.Asp100Gly)	ZBTB18 (D100G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412699	NM_205768.3(ZBTB18):c.306del (p.Ile103fs)	ZBTB18 (I103fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 2094617	NM_205768.3(ZBTB18):c.306C>T (p.Pro102=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2461543	NM_205768.3(ZBTB18):c.307A>G (p.Ile103Val)	ZBTB18 (I103V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377090	NM_205768.3(ZBTB18):c.307A>T (p.Ile103Phe)	ZBTB18 (I103F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782431	NM_205768.3(ZBTB18):c.309T>C (p.Ile103=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727702	NM_205768.3(ZBTB18):c.315C>T (p.Asp105=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698212	NM_205768.3(ZBTB18):c.335A>G (p.Tyr112Cys)	ZBTB18 (Y103C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788722	NM_205768.3(ZBTB18):c.339C>T (p.Leu113=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2664043	NM_205768.3(ZBTB18):c.343A>G (p.Met115Val)	ZBTB18 (M106V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 986209	NM_205768.3(ZBTB18):c.352A>G (p.Ile118Val)	ZBTB18 (I109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1993076	NM_205768.3(ZBTB18):c.362T>G (p.Val121Gly)	ZBTB18 (V121G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1973703	NM_205768.3(ZBTB18):c.372G>C (p.Lys124Asn)	ZBTB18 (K124N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832535	NM_205768.3(ZBTB18):c.387A>G (p.Lys129=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631480	NM_205768.3(ZBTB18):c.395C>T (p.Thr132Met)	ZBTB18 (T123M +1 more)	Single nucleotide variant (missense variant)	ZBTB18-related disorder	GUncertain significance
Select item 2890619	NM_205768.3(ZBTB18):c.396G>A (p.Thr132=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 88856	NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter)	ZBTB18 (E133* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2045837	NM_205768.3(ZBTB18):c.406A>G (p.Ser136Gly)	ZBTB18 (S136G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2826241	NM_205768.3(ZBTB18):c.407G>A (p.Ser136Asn)	ZBTB18 (S127N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556742	NM_205768.3(ZBTB18):c.410C>T (p.Thr137Ile)	ZBTB18 (T128I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504841	NM_205768.3(ZBTB18):c.421G>A (p.Glu141Lys)	ZBTB18 (E132K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635947	NM_205768.3(ZBTB18):c.440C>G (p.Ser147Trp)	ZBTB18 (S138W +1 more)	Single nucleotide variant (missense variant)	ZBTB18-related disorder	GUncertain significance
Select item 1805570	NM_205768.3(ZBTB18):c.446A>G (p.Lys149Arg)	ZBTB18 (K140R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2893753	NM_205768.3(ZBTB18):c.462C>T (p.Ser154=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715892	NM_205768.3(ZBTB18):c.463G>A (p.Asp155Asn)	ZBTB18 (D146N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

<< First< Prev

Page of 4