51633[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 155616	GRCh38/hg38 8q21.3(chr8:90543310-91144982)x1	C8orf88, LINC01030 +16 more	Copy number loss	See cases	GLikely benign
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 935052	NM_016023.3(OTUD6B):c.16A>G (p.Arg6Gly)	OTUD6B (R6G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2271366	NM_016023.3(OTUD6B):c.41C>T (p.Thr14Ile)	OTUD6B (T14I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711501	NM_016023.5(OTUD6B):c.-39A>G	OTUD6B	Single nucleotide variant (5 prime UTR variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +3 more	GConflicting classifications of pathogenicity
Select item 1033385	NM_016023.5(OTUD6B):c.-15G>A	OTUD6B	Single nucleotide variant (5 prime UTR variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GUncertain significance
Select item 2493230	NM_016023.5(OTUD6B):c.-3G>A	OTUD6B	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3029214	NM_016023.5(OTUD6B):c.15G>C (p.Leu5Phe)	LOC130000726, OTUD6B (L5F)	Single nucleotide variant (5 prime UTR variant +1 more)	OTUD6B-related disorder	GUncertain significance
Select item 1452195	NM_016023.5(OTUD6B):c.19G>T (p.Glu7Ter)	LOC130000726, OTUD6B (E7*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1683920	NM_016023.5(OTUD6B):c.25C>G (p.Leu9Val)	LOC130000726, OTUD6B (L9V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2634577	NM_016023.5(OTUD6B):c.43C>G (p.Leu15Val)	LOC130000726, OTUD6B (L15V)	Single nucleotide variant (5 prime UTR variant +1 more)	OTUD6B-related disorder	GUncertain significance
Select item 2658683	NM_016023.5(OTUD6B):c.81A>G (p.Gln27=)	LOC130000726, OTUD6B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 375703	NM_016023.5(OTUD6B):c.83-2A>G	OTUD6B	Single nucleotide variant (splice acceptor variant)	Intellectual disability +2 more	GPathogenic
Select item 2658684	NM_016023.5(OTUD6B):c.96C>G (p.Gly32=)	OTUD6B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3207395	NM_016023.5(OTUD6B):c.103A>T (p.Asn35Tyr)	OTUD6B (N35Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3207396	NM_016023.5(OTUD6B):c.112C>G (p.Pro38Ala)	OTUD6B (P38A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3207397	NM_016023.5(OTUD6B):c.131G>A (p.Arg44Lys)	OTUD6B (R44K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1259524	NM_016023.5(OTUD6B):c.141A>G (p.Gln47=)	OTUD6B	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +1 more	GBenign
Select item 2296593	NM_016023.5(OTUD6B):c.145A>G (p.Thr49Ala)	OTUD6B (T49A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410481	NM_016023.5(OTUD6B):c.172G>A (p.Glu58Lys)	OTUD6B (E58K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 967815	NM_016023.5(OTUD6B):c.189_190del (p.His63fs)	OTUD6B (H63fs)	Deletion (5 prime UTR variant +1 more)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +1 more	GPathogenic
Select item 1333287	NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)	OTUD6B (E65fs)	Microsatellite (5 prime UTR variant +1 more)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GPathogenic/Likely pathogenic
Select item 3053871	NM_016023.5(OTUD6B):c.192A>G (p.Arg64=)	OTUD6B	Single nucleotide variant (5 prime UTR variant +1 more)	OTUD6B-related disorder	GLikely benign
Select item 1216417	NM_016023.5(OTUD6B):c.205C>T (p.Gln69Ter)	OTUD6B (Q69*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 3036426	NM_016023.5(OTUD6B):c.255C>G (p.Asn85Lys)	OTUD6B (N85K)	Single nucleotide variant (5 prime UTR variant +2 more)	OTUD6B-related disorder	GUncertain significance
Select item 2621308	NM_016023.5(OTUD6B):c.290G>A (p.Arg97Gln)	OTUD6B (R97Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 624337	NM_016023.5(OTUD6B):c.315G>T (p.Arg105=)	OTUD6B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2434531	NM_016023.5(OTUD6B):c.316-1622G>A	OTUD6B	Single nucleotide variant (intron variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +1 more	GUncertain significance
Select item 1304881	NM_016023.5(OTUD6B):c.316-11G>C	OTUD6B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 375701	NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter)	OTUD6B (R14* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 2399150	NM_016023.5(OTUD6B):c.353G>A (p.Arg118Gln)	OTUD6B (R17Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747799	NM_016023.5(OTUD6B):c.372T>C (p.Ile124=)	OTUD6B	Single nucleotide variant (synonymous variant)	OTUD6B-related disorder +1 more	GLikely benign
Select item 375702	NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs)	OTUD6B (L127fs +1 more)	Deletion (frameshift variant)	Intellectual disability +2 more	GPathogenic
Select item 935053	NM_016023.5(OTUD6B):c.377A>C (p.Asn126Thr)	OTUD6B (N25T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627380	NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)	OTUD6B (L100fs +2 more)	Deletion (frameshift variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GPathogenic
Select item 711502	NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp)	OTUD6B (A130D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2220396	NM_016023.5(OTUD6B):c.394C>T (p.His132Tyr)	OTUD6B (H132Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810274	NM_016023.5(OTUD6B):c.401A>G (p.Glu134Gly)	OTUD6B (E134G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GLikely pathogenic
Select item 1324839	NM_016023.5(OTUD6B):c.481A>T (p.Lys161Ter)	OTUD6B (K161* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GLikely pathogenic
Select item 759285	NM_016023.5(OTUD6B):c.513T>C (p.Asp171=)	OTUD6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1072997	NM_016023.5(OTUD6B):c.521dup (p.Thr175fs)	OTUD6B (T175fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1334799	NM_016023.5(OTUD6B):c.527_528del (p.Val176fs)	OTUD6B (V176fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1330413	NM_016023.5(OTUD6B):c.550G>A (p.Ala184Thr)	OTUD6B (A184T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GUncertain significance
Select item 375704	NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)	OTUD6B (Y85C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 1313846	NM_016023.5(OTUD6B):c.562C>T (p.Gln188Ter)	OTUD6B (Q188* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2376193	NM_016023.5(OTUD6B):c.595A>G (p.Thr199Ala)	OTUD6B (T199A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762348	NM_016023.5(OTUD6B):c.628+8A>C	OTUD6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1029424	NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter)	OTUD6B (E110* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2273973	NM_016023.5(OTUD6B):c.653A>C (p.Asp218Ala)	OTUD6B (D218A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598016	NM_016023.5(OTUD6B):c.656T>C (p.Ile219Thr)	OTUD6B (I219T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708377	NM_016023.5(OTUD6B):c.658G>A (p.Val220Ile)	OTUD6B (V220I +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +2 more	GConflicting classifications of pathogenicity
Select item 2542656	NM_016023.5(OTUD6B):c.671C>T (p.Ala224Val)	OTUD6B (A197V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339067	NM_016023.5(OTUD6B):c.677G>T (p.Gly226Val)	OTUD6B (G125V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GUncertain significance
Select item 559925	NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro)	OTUD6B (L128P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GLikely pathogenic
Select item 3064925	NM_016023.5(OTUD6B):c.691C>G (p.Leu231Val)	OTUD6B (L130V +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GUncertain significance
Select item 3061834	NM_016023.5(OTUD6B):c.692T>C (p.Leu231Pro)	OTUD6B (L130P +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GUncertain significance
Select item 756249	NM_016023.5(OTUD6B):c.693A>G (p.Leu231=)	OTUD6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683804	NM_016023.5(OTUD6B):c.703T>C (p.Ser235Pro)	OTUD6B (S134P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335813	NM_016023.5(OTUD6B):c.731T>G (p.Ile244Arg)	OTUD6B (I143R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GLikely pathogenic
Select item 3207398	NM_016023.5(OTUD6B):c.767A>G (p.Glu256Gly)	OTUD6B (E155G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061832	NM_016023.5(OTUD6B):c.776C>A (p.Ser259Ter)	OTUD6B (S158* +2 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	GUncertain significance
Select item 488709	NM_016023.5(OTUD6B):c.797+1G>A	OTUD6B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1388293	NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu)	OTUD6B (S179L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2513632	NM_016023.5(OTUD6B):c.847C>T (p.Arg283Trp)	OTUD6B (R256W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1310861	NM_016023.5(OTUD6B):c.860_861del (p.Ile287fs)	OTUD6B (I186fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563522	GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1	RUNX1T1, OTUD6B +4 more	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441616	GRCh37/hg19 8q21.3(chr8:91080027-92129950)x3	CALB1, LRRC69 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic

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