KIF26B[gene] - ClinVar - NCBI

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	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 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 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 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 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 60188	GRCh38/hg38 1q44(chr1:244222222-245502219)x1	ADSS2, C1orf202 +47 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 60192	GRCh38/hg38 1q44(chr1:244692061-245647727)x1	C1orf202, COX20 +31 more	Copy number loss	See cases	GPathogenic
Select item 144508	GRCh38/hg38 1q44(chr1:244923388-246158204)x3	EFCAB2, KIF26B +24 more	Copy number gain	See cases	GUncertain significance
Select item 150226	GRCh38/hg38 1q44(chr1:244960522-245502219)x3	EFCAB2, KIF26B +12 more	Copy number gain	See cases	GUncertain significance
Select item 148566	GRCh38/hg38 1q44(chr1:244960522-245542967)x3	EFCAB2, KIF26B +12 more	Copy number gain	See cases	GLikely benign
Select item 144749	GRCh38/hg38 1q44(chr1:244988599-245542967)x3	EFCAB2, KIF26B +6 more	Copy number gain	See cases	GUncertain significance
Select item 144378	GRCh38/hg38 1q44(chr1:244988599-245502219)x3	EFCAB2, KIF26B +6 more	Copy number gain	See cases	GBenign
Select item 149286	GRCh38/hg38 1q44(chr1:244998996-246049903)x3	EFCAB2, KIF26B +12 more	Copy number gain	See cases	GUncertain significance
Select item 2343810	NM_018012.4(KIF26B):c.20A>T (p.Asn7Ile)	KIF26B (N7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458849	NM_018012.4(KIF26B):c.82C>T (p.Pro28Ser)	KIF26B (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033898	NM_018012.4(KIF26B):c.171G>A (p.Glu57=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GBenign
Select item 2512730	NM_018012.4(KIF26B):c.175G>T (p.Ala59Ser)	KIF26B (A59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350836	NM_018012.4(KIF26B):c.195C>A (p.Ser65=)	KIF26B, LOC129932922	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 3033153	NM_018012.4(KIF26B):c.222C>G (p.Gly74=)	KIF26B, LOC129932922	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 3288583	NM_018012.4(KIF26B):c.236G>A (p.Ser79Asn)	KIF26B, LOC129932922 (S79N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378332	NM_018012.4(KIF26B):c.271G>A (p.Gly91Ser)	KIF26B, LOC129932922 (G91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545894	NM_018012.4(KIF26B):c.364G>C (p.Gly122Arg)	KIF26B, LOC129932922 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288600	NM_018012.4(KIF26B):c.404G>T (p.Arg135Leu)	KIF26B, LOC129932922 (R135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288584	NM_018012.4(KIF26B):c.422G>A (p.Arg141Lys)	KIF26B, LOC129932922 (R141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513649	NM_018012.4(KIF26B):c.431T>C (p.Leu144Pro)	KIF26B, LOC129932922 (L144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352520	NM_018012.4(KIF26B):c.435G>T (p.Arg145Ser)	KIF26B, LOC129932922 (R145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055895	NM_018012.4(KIF26B):c.447G>C (p.Pro149=)	KIF26B, LOC129932922	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 3288601	NM_018012.4(KIF26B):c.452C>G (p.Pro151Arg)	KIF26B, LOC129932922 (P151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035159	NM_018012.4(KIF26B):c.453C>T (p.Pro151=)	KIF26B, LOC129932922	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 3114812	NM_018012.4(KIF26B):c.458C>T (p.Pro153Leu)	KIF26B, LOC129932922 (P153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153987	GRCh38/hg38 1q44(chr1:245299178-246310558)x3	KIF26B, LOC110121251 +16 more	Copy number gain	See cases	GUncertain significance
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	See cases	GPathogenic
Select item 2266689	NM_018012.4(KIF26B):c.479C>T (p.Ser160Leu)	KIF26B (S160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640227	NM_018012.4(KIF26B):c.507C>T (p.Val169=)	KIF26B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3034809	NM_018012.4(KIF26B):c.534C>T (p.Asn178=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 3050816	NM_018012.4(KIF26B):c.582G>A (p.Leu194=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 2236943	NM_018012.4(KIF26B):c.611C>T (p.Thr204Met)	KIF26B (T204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114829	NM_018012.4(KIF26B):c.620A>C (p.Gln207Pro)	KIF26B (Q207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299302	NM_018012.4(KIF26B):c.646G>A (p.Ala216Thr)	KIF26B (A216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114830	NM_018012.4(KIF26B):c.650C>T (p.Ser217Leu)	KIF26B (S217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038384	NM_018012.4(KIF26B):c.651G>A (p.Ser217=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 2389656	NM_018012.4(KIF26B):c.673T>G (p.Ser225Ala)	KIF26B (S225A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048017	NM_018012.4(KIF26B):c.776G>T (p.Gly259Val)	KIF26B (G259V)	Single nucleotide variant (missense variant)	KIF26B-related disorder	GBenign
Select item 729239	NM_018012.4(KIF26B):c.819C>T (p.Val273=)	KIF26B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3288588	NM_018012.4(KIF26B):c.826G>A (p.Gly276Arg)	KIF26B (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050204	NM_018012.4(KIF26B):c.876C>T (p.Leu292=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 2640228	NM_018012.4(KIF26B):c.913A>C (p.Asn305His)	KIF26B (N305H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297933	NM_018012.4(KIF26B):c.974A>G (p.Asn325Ser)	KIF26B (N325S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711323	NM_018012.4(KIF26B):c.975C>T (p.Asn325=)	KIF26B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114791	NM_018012.4(KIF26B):c.1020G>C (p.Glu340Asp)	KIF26B (E340D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385723	NM_018012.4(KIF26B):c.1024A>G (p.Ser342Gly)	KIF26B (S342G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3039709	NM_018012.4(KIF26B):c.1074G>A (p.Lys358=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 2523239	NM_018012.4(KIF26B):c.1090G>A (p.Val364Ile)	KIF26B (V364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336827	NM_018012.4(KIF26B):c.1123G>A (p.Glu375Lys)	KIF26B (E375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034065	NM_018012.4(KIF26B):c.1128T>C (p.Thr376=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GBenign
Select item 2295894	NM_018012.4(KIF26B):c.1141T>C (p.Ser381Pro)	KIF26B (S381P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156775	NM_018012.4(KIF26B):c.1166+53868_1166+59172del	KIF26B	Deletion (intron variant)	Preeclampsia	Gnot provided
Select item 156773	Single allele	KIF26B	Deletion	Normal pregnancy +1 more	Gnot provided
Select item 2411150	NM_018012.4(KIF26B):c.1172C>T (p.Ala391Val)	KIF26B (A391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114792	NM_018012.4(KIF26B):c.1190C>A (p.Ser397Tyr)	KIF26B (S397Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114793	NM_018012.4(KIF26B):c.1211G>A (p.Arg404Gln)	KIF26B (R404Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044359	NM_018012.4(KIF26B):c.1227C>T (p.Ser409=)	KIF26B	Single nucleotide variant (synonymous variant)	KIF26B-related disorder	GLikely benign
Select item 3057144	NM_018012.4(KIF26B):c.1228G>C (p.Ala410Pro)	KIF26B (A410P)	Single nucleotide variant (missense variant)	KIF26B-related disorder	GBenign
Select item 2640229	NM_018012.4(KIF26B):c.1228G>A (p.Ala410Thr)	KIF26B (A410T)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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