21208[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 232

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
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 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	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 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
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 57169	GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1	CNIH3, CNIH3-AS1 +43 more	Copy number loss	See cases	GUncertain significance
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 2579189	GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1	CNIH3, CNIH4 +12 more	Copy number loss	Skraban-Deardorff syndrome	GPathogenic
Select item 3068439	Single allele	LOC129932589, LOC129932590 +10 more	Complex	Skraban-Deardorff syndrome	GPathogenic
Select item 522069	NM_001379403.1(WDR26):c.2267G>T (p.Cys756Phe)	WDR26 (C656F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631771	NM_001379403.1(WDR26):c.2246_2249delinsTTTGTATAATGTT (p.His749_Gln750delinsLeuCysIleMetLeu)	WDR26	Indel (inframe_indel)	WDR26-related disorder	GUncertain significance
Select item 2429289	NM_001379403.1(WDR26):c.2249A>G (p.Gln750Arg)	WDR26 (Q634R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059746	NM_001379403.1(WDR26):c.2235T>C (p.Pro745=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 3369984	NM_001379403.1(WDR26):c.2225G>T (p.Gly742Val)	WDR26 (G626V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986836	NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly)	WDR26 (D619G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1334865	NM_001379403.1(WDR26):c.2182A>G (p.Met728Val)	WDR26 (M612V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339684	NM_001379403.1(WDR26):c.2139A>G (p.Thr713=)	WDR26	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2629411	NM_001379403.1(WDR26):c.2129C>T (p.Thr710Ile)	WDR26 (T594I +2 more)	Single nucleotide variant (missense variant)	WDR26-related disorder	GUncertain significance
Select item 767752	NM_001379403.1(WDR26):c.2109A>G (p.Glu703=)	WDR26	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 985966	NM_001379403.1(WDR26):c.2094G>A (p.Trp698Ter)	WDR26 (W582* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2627211	NM_001379403.1(WDR26):c.2063G>A (p.Ser688Asn)	WDR26 (S572N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236451	NM_001379403.1(WDR26):c.2059G>A (p.Ala687Thr)	WDR26 (A571T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3233698	NM_001379403.1(WDR26):c.2047G>A (p.Glu683Lys)	WDR26 (E567K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443503	NM_001379403.1(WDR26):c.2026T>G (p.Ser676Ala)	WDR26 (S560A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801625	NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)	WDR26 (R558fs +2 more)	Microsatellite (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 1012763	NM_001379403.1(WDR26):c.1963T>G (p.Leu655Val)	WDR26 (L539V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684226	NM_001379403.1(WDR26):c.1945-30T>G	MIR4742, WDR26	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 981417	NM_001379403.1(WDR26):c.1944+1G>C	WDR26	Single nucleotide variant (splice donor variant)	Intellectual disability	GPathogenic
Select item 522095	NM_001379403.1(WDR26):c.1925_1934del (p.Ala641_Leu642insTer)	WDR26	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1711239	NM_001379403.1(WDR26):c.1916G>T (p.Arg639Leu)	WDR26 (R523L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996856	NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln)	WDR26 (R523Q +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 987180	NM_001379403.1(WDR26):c.1910dup (p.Asn637fs)	WDR26 (N521fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2285841	NM_001379403.1(WDR26):c.1888A>T (p.Met630Leu)	WDR26 (M514L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431384	NM_001379403.1(WDR26):c.1881dup (p.Pro628fs)	WDR26 (P512fs +2 more)	Duplication (frameshift variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 520812	NM_001379403.1(WDR26):c.1870C>G (p.Gln624Glu)	WDR26 (Q524E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189916	NM_001379403.1(WDR26):c.1849del (p.Thr618fs)	WDR26 (T518fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2662189	NM_001379403.1(WDR26):c.1835A>G (p.Tyr612Cys)	WDR26 (Y496C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983152	NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln)	WDR26 (R494Q +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 1679406	NM_001379403.1(WDR26):c.1822C>T (p.Arg608Ter)	WDR26 (R492* +2 more)	Single nucleotide variant (nonsense)	Skraban-Deardorff syndrome	GPathogenic
Select item 2504225	NM_001379403.1(WDR26):c.1814C>T (p.Thr605Ile)	WDR26 (T489I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985251	NM_001379403.1(WDR26):c.1812T>A (p.Asp604Glu)	WDR26 (D488E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992784	NM_001379403.1(WDR26):c.1796C>T (p.Thr599Ile)	WDR26 (T483I +2 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 3058275	NM_001379403.1(WDR26):c.1784G>A (p.Ser595Asn)	WDR26 (S479N +2 more)	Single nucleotide variant (missense variant)	WDR26-related disorder	GUncertain significance
Select item 3337742	NM_001379403.1(WDR26):c.1777del (p.Cys593fs)	WDR26 (C477fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2297832	NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter)	WDR26 (W492* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 433008	NM_001379403.1(WDR26):c.1757del (p.Val586fs)	WDR26 (V486fs +2 more)	Deletion (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 3350926	NM_001379403.1(WDR26):c.1756G>T (p.Val586Leu)	WDR26 (V470L +2 more)	Single nucleotide variant (missense variant)	WDR26-related disorder	GUncertain significance
Select item 3369291	NM_001379403.1(WDR26):c.1718G>A (p.Cys573Tyr)	WDR26 (C457Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2583143	NM_001379403.1(WDR26):c.1702G>A (p.Gly568Arg)	WDR26 (G452R +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 801626	NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val)	WDR26 (G465V +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 2504897	NM_001379403.1(WDR26):c.1673G>A (p.Gly558Glu)	WDR26 (G442E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489516	NM_001379403.1(WDR26):c.1669G>C (p.Asp557His)	WDR26 (D441H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313699	NM_001379403.1(WDR26):c.1642A>G (p.Ser548Gly)	WDR26 (S432G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714797	NM_001379403.1(WDR26):c.1635T>C (p.His545=)	WDR26	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2498445	NM_001379403.1(WDR26):c.1630T>A (p.Ser544Thr)	WDR26 (S428T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1879111	NM_001379403.1(WDR26):c.1600-3T>C	WDR26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2662363	NM_001379403.1(WDR26):c.1586T>C (p.Leu529Pro)	WDR26 (L413P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332767	NM_001379403.1(WDR26):c.1578G>C (p.Glu526Asp)	WDR26 (E410D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 433006	NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter)	WDR26 (E426* +2 more)	Single nucleotide variant (nonsense)	Skraban-Deardorff syndrome	GPathogenic
Select item 2574355	NM_001379403.1(WDR26):c.1540_1569del (p.Asn514_Asp523del)	WDR26	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3189915	NM_001379403.1(WDR26):c.1559G>T (p.Gly520Val)	WDR26 (G420V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334031	NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr)	WDR26 (C403Y +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 2390616	NM_001379403.1(WDR26):c.1544A>G (p.Tyr515Cys)	WDR26 (Y399C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 806366	NM_001379403.1(WDR26):c.1544A>C (p.Tyr515Ser)	WDR26 (Y399S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446242	NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn)	WDR26 (D413N +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 446243	NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly)	WDR26 (W409G +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 2438569	NM_001379403.1(WDR26):c.1510G>A (p.Val504Ile)	WDR26 (V388I +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 1698772	NM_001379403.1(WDR26):c.1498del (p.His500fs)	WDR26 (H384fs +2 more)	Deletion (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 3047556	NM_001379403.1(WDR26):c.1488A>G (p.Thr496=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 983017	NM_001379403.1(WDR26):c.1468C>G (p.Leu490Val)	WDR26 (L374V +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 433007	NM_001379403.1(WDR26):c.1461_1462del (p.His489fs)	WDR26 (H373fs +2 more)	Deletion (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 2247258	NM_001379403.1(WDR26):c.1458+3A>G	WDR26	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 930867	NM_001379403.1(WDR26):c.1458+1G>A	WDR26	Single nucleotide variant (splice donor variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 3236041	NM_001379403.1(WDR26):c.1458G>A (p.Pro486=)	WDR26	Single nucleotide variant (synonymous variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 2226793	NM_001379403.1(WDR26):c.1457C>T (p.Pro486Leu)	WDR26 (P370L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1705637	NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter)	WDR26 (W366* +2 more)	Single nucleotide variant (nonsense)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 2444808	NM_001379403.1(WDR26):c.1443A>G (p.Ile481Met)	WDR26 (I365M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2262529	NM_001379403.1(WDR26):c.1441A>G (p.Ile481Val)	WDR26 (I481V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3367846	NM_001379403.1(WDR26):c.1438A>C (p.Ile480Leu)	WDR26 (I364L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251935	NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro)	WDR26 (A355P +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 1307688	NM_001379403.1(WDR26):c.1389C>G (p.Phe463Leu)	WDR26 (F347L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802591	NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter)	WDR26 (W343* +2 more)	Single nucleotide variant (nonsense)	Skraban-Deardorff syndrome	GPathogenic
Select item 1303704	NM_001379403.1(WDR26):c.1361A>G (p.His454Arg)	WDR26 (H338R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027209	NM_001379403.1(WDR26):c.1354dup (p.Thr452fs)	WDR26 (T336fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1679734	NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met)	WDR26 (T336M +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3373148	NM_001379403.1(WDR26):c.1352T>C (p.Leu451Pro)	WDR26 (L335P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030813	NM_001379403.1(WDR26):c.1338T>C (p.Tyr446=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 817912	NM_001379403.1(WDR26):c.1323_1324delinsTT (p.Arg441_Gln442delinsSerTer)	WDR26	Indel (nonsense)	not provided	GPathogenic
Select item 3368475	NM_001379403.1(WDR26):c.1319+3A>G	WDR26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1034092	NM_001379403.1(WDR26):c.1319+1G>A	WDR26	Single nucleotide variant (splice donor variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 931463	NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg)	WDR26 (S439R +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3365596	NM_001379403.1(WDR26):c.1304A>C (p.Asp435Ala)	WDR26 (D319A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3