ClinVar for Gene (Select 347688) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184765	NM_177987.3(TUBB8):c.76G>A (p.Asp26Asn)	TUBB8 (D26N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068191	NM_177987.3(TUBB8):c.166G>A (p.Gly56Ser)	TUBB8 (G56S)	Single nucleotide variant (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GUncertain significance
Select item 3068145	NM_177987.3(TUBB8):c.1036C>A (p.Pro346Thr)	TUBB8 (P274T +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GUncertain significance
Select item 3025247	NM_177987.3(TUBB8):c.291C>A (p.Ala97=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640263	NM_177987.3(TUBB8):c.414C>T (p.Ser138=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609342	NM_177987.3(TUBB8):c.604A>G (p.Ile202Val)	TUBB8 (I202V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578610	NM_177987.3(TUBB8):c.867T>C (p.Leu289=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2532131	NM_177987.3(TUBB8):c.283T>C (p.Cys95Arg)	TUBB8 (C95R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498456	NM_177987.3(TUBB8):c.124C>G (p.Leu42Val)	TUBB8 (L42V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2349211	NM_177987.3(TUBB8):c.302G>C (p.Trp101Ser)	TUBB8 (W101S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309949	NM_177987.3(TUBB8):c.515C>T (p.Ser172Leu)	TUBB8 (S172L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309948	NM_177987.3(TUBB8):c.512C>T (p.Pro171Leu)	TUBB8 (P99L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275185	NM_177987.3(TUBB8):c.389T>G (p.Leu130Arg)	TUBB8 (L130R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218344	NM_177987.3(TUBB8):c.559C>T (p.Leu187Phe)	TUBB8 (L115F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879128	NM_177987.3(TUBB8):c.762C>G (p.Ala254=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801516	NM_177987.3(TUBB8):c.-42T>C	TUBB8	Single nucleotide variant (5 prime UTR variant +1 more)	Streaky metaphyseal sclerosis +1 more	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1185197	NM_001389618.1(TUBB8):c.-165C>T	TUBB8	Single nucleotide variant (5 prime UTR variant)	Oocyte maturation defect 2	GBenign
Select item 1185196	NM_177987.3(TUBB8):c.-51G>A	TUBB8	Single nucleotide variant (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GBenign
Select item 1185195	NM_177987.3(TUBB8):c.-48T>A	TUBB8	Single nucleotide variant (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GBenign
Select item 1185194	NM_177987.3(TUBB8):c.57+26T>C	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185193	NM_177987.3(TUBB8):c.57+48C>T	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185192	NM_177987.3(TUBB8):c.58-20T>G	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185191	NM_177987.3(TUBB8):c.516G>A (p.Ser172=)	TUBB8	Single nucleotide variant (synonymous variant)	Oocyte maturation defect 2	GBenign
Select item 1185190	NM_177987.3(TUBB8):c.58-18T>C	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185189	NM_177987.3(TUBB8):c.277+10G>A	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185188	NM_177987.3(TUBB8):c.277+129G>A	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185187	NM_177987.3(TUBB8):c.278-82G>A	TUBB8	Single nucleotide variant (intron variant)	Oocyte maturation defect 2	GBenign
Select item 1185186	NM_177987.3(TUBB8):c.729G>A (p.Pro243=)	TUBB8	Single nucleotide variant (synonymous variant)	Oocyte maturation defect 2	GBenign
Select item 1176540	NM_177987.3(TUBB8):c.1301_1327del (p.Glu434_Glu442del)	TUBB8	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 996214	NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser)	TUBB8 (G308S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 977681	NM_177987.3(TUBB8):c.940G>T (p.Ala314Ser)	TUBB8 (A314S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977680	NM_177987.3(TUBB8):c.893A>G (p.Asn298Ser)	TUBB8 (N298S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977679	NM_177987.3(TUBB8):c.1139G>A (p.Arg380His)	TUBB8 (R380H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977678	NM_177987.3(TUBB8):c.10A>C (p.Ile4Leu)	TUBB8 (I4L)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977677	NM_177987.3(TUBB8):c.1045G>A (p.Val349Ile)	TUBB8 (V349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977676	NM_177987.3(TUBB8):c.613G>A (p.Glu205Lys)	TUBB8 (E205K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977675	NM_177987.3(TUBB8):c.1130T>C (p.Leu377Pro)	TUBB8 (L377P)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977674	NM_177987.3(TUBB8):c.938C>T (p.Ala313Val)	TUBB8 (A313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977673	NM_177987.3(TUBB8):c.722G>A (p.Arg241His)	TUBB8 (R241H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 977672	NM_177987.3(TUBB8):c.535G>A (p.Val179Met)	TUBB8 (V179M)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977671	NM_177987.3(TUBB8):c.1073C>T (p.Pro358Leu)	TUBB8 (P358L)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977670	NM_177987.3(TUBB8):c.1172G>A (p.Arg391His)	TUBB8 (R391H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977669	NM_177987.3(TUBB8):c.292G>A (p.Gly98Arg)	TUBB8 (G98R)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977668	NM_177987.3(TUBB8):c.728C>T (p.Pro243Leu)	TUBB8 (P243L)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977667	NM_177987.3(TUBB8):c.1203_1204insCT (p.Gly402fs)	TUBB8 (G402fs)	Insertion (frameshift variant)	Oocyte maturation defect 2	GPathogenic
Select item 977666	NM_177987.3(TUBB8):c.594G>C (p.Glu198Asp)	TUBB8 (E198D)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977665	NM_177987.3(TUBB8):c.544C>T (p.Pro182Ser)	TUBB8 (P182S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977664	NM_177987.3(TUBB8):c.136C>T (p.Arg46Cys)	TUBB8 (R46C)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977663	NM_177987.3(TUBB8):c.629T>A (p.Ile210Lys)	TUBB8 (I210K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977662	NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp)	TUBB8 (A393D)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977661	NM_177987.3(TUBB8):c.1271A>G (p.Gln424Arg)	TUBB8 (Q424R)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977660	NM_177987.3(TUBB8):c.1242C>G (p.Asn414Lys)	TUBB8 (N414K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977659	NM_177987.3(TUBB8):c.550A>G (p.Asn184Asp)	TUBB8 (N184D)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977658	NM_177987.3(TUBB8):c.539T>C (p.Val180Ala)	TUBB8 (V180A)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977657	NM_177987.3(TUBB8):c.367G>A (p.Glu123Lys)	TUBB8 (E123K)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977656	NM_177987.3(TUBB8):c.1163T>C (p.Met388Thr)	TUBB8 (M388T)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977655	NM_177987.3(TUBB8):c.1189T>G (p.Trp397Gly)	TUBB8 (W397G)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977654	NM_177987.3(TUBB8):c.422G>C (p.Gly141Ala)	TUBB8 (G141A)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 977653	NM_177987.3(TUBB8):c.394G>T (p.Gly132Cys)	TUBB8 (G132C)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 931669	NM_177987.3(TUBB8):c.1033C>T (p.Leu345Phe)	TUBB8 (L345F)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 931668	NM_177987.3(TUBB8):c.1039A>G (p.Asn347Asp)	TUBB8 (N347D)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 930176	NM_177987.3(TUBB8):c.[1033C>T;1039A>G]	TUBB8 (N347D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805978	NM_177987.3(TUBB8):c.843C>G (p.Tyr281Ter)	TUBB8 (Y281*)	Single nucleotide variant (nonsense)	CIC-DUX Sarcoma	Gnot provided
Select item 805949	NM_177987.3(TUBB8):c.845G>C (p.Arg282Pro)	TUBB8 (R282P)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GUncertain significance
Select item 789607	NM_177987.3(TUBB8):c.96C>T (p.Ser32=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781785	NM_177987.3(TUBB8):c.273C>T (p.Ile91=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775282	NM_177987.3(TUBB8):c.9G>A (p.Glu3=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 735941	NM_177987.3(TUBB8):c.210G>A (p.Pro70=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735006	NM_177987.3(TUBB8):c.180G>A (p.Val60=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724588	NM_177987.3(TUBB8):c.225T>C (p.Ser75=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720138	NM_177987.3(TUBB8):c.87C>T (p.Ala29=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717655	NM_177987.3(TUBB8):c.264C>T (p.Asp88=)	TUBB8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694522	NM_177987.3(TUBB8):c.763G>A (p.Val255Met)	TUBB8 (V255M +1 more)	Single nucleotide variant (missense variant)	Inherited oocyte maturation defect	GLikely pathogenic
Select item 684762	NM_177987.3(TUBB8):c.735G>C (p.Gln245His)	TUBB8 (Q245H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GLikely pathogenic
Select item 522599	NM_177987.3(TUBB8):c.600T>G (p.Phe200Leu)	TUBB8 (F200L +1 more)	Single nucleotide variant (missense variant)	Female infertility	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 378061	NM_177987.3(TUBB8):c.426dup (p.Thr143fs)	TUBB8 (T143fs +1 more)	Duplication (frameshift variant)	Oocyte maturation defect 2	GPathogenic
Select item 378060	NM_177987.3(TUBB8):c.80_100del (p.Glu27_Ala33del)	TUBB8	Deletion (5 prime UTR variant +1 more)	Oocyte maturation defect 2	GPathogenic
Select item 378059	NM_177987.3(TUBB8):c.713C>T (p.Thr238Met)	TUBB8 (T238M +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223146	NM_177987.3(TUBB8):c.900G>A (p.Met300Ile)	TUBB8 (M300I +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223145	NM_177987.3(TUBB8):c.1088T>C (p.Met363Thr)	TUBB8 (M363T +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223144	NM_177987.3(TUBB8):c.785G>A (p.Arg262Gln)	TUBB8 (R262Q +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 223143	NM_177987.3(TUBB8):c.527C>T (p.Ser176Leu)	TUBB8 (S176L +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 221270	NM_177987.3(TUBB8):c.5G>A (p.Arg2Lys)	TUBB8 (R2K)	Single nucleotide variant (missense variant +1 more)	Oocyte maturation defect 2	GPathogenic
Select item 221269	NM_177987.3(TUBB8):c.1249G>A (p.Asp417Asn)	TUBB8 (D417N +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 221268	NM_177987.3(TUBB8):c.686T>C (p.Val229Ala)	TUBB8 (V229A +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	LINC02645, LINC02648 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150117	GRCh38/hg38 10p15.3(chr10:70478-770688)x1	DIP2C, DIP2C-AS1 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC124403900, LOC124403901 +520 more	Copy number loss	See cases	GPathogenic
Select item 148516	GRCh38/hg38 10p15.3(chr10:70478-457520)x1	DIP2C, LOC124403897 +12 more	Copy number loss	See cases	GUncertain significance
Select item 148280	GRCh38/hg38 10p15.3(chr10:70478-312686)x1	DIP2C, LOC124403897 +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 145929	GRCh38/hg38 10p15.3(chr10:73856-182858)x3	LOC124403897, LOC130003151 +3 more	Copy number gain	See cases	GLikely benign
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 59397	GRCh38/hg38 10p15.3(chr10:14062-622709)x1	DIP2C, LOC102723376 +14 more	Copy number loss	See cases	GUncertain significance
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 100