ClinVar for Gene (Select 51807) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184733	NM_018943.3(TUBA8):c.346G>T (p.Asp116Tyr)	TUBA8 (D116Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184732	NM_018943.3(TUBA8):c.286A>G (p.Lys96Glu)	TUBA8 (K30E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184731	NM_018943.3(TUBA8):c.1217A>C (p.His406Pro)	TUBA8 (H340P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184730	NM_018943.3(TUBA8):c.1213G>A (p.Val405Met)	TUBA8 (V339M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3061828	NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)	TUBA8 (I105S +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 3045432	NM_018943.3(TUBA8):c.309T>C (p.Tyr103=)	TUBA8	Single nucleotide variant (synonymous variant)	TUBA8-related disorder	GLikely benign
Select item 3011137	NM_018943.3(TUBA8):c.323A>G (p.Tyr108Cys)	TUBA8 (Y108C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006443	NM_018943.3(TUBA8):c.163G>A (p.Glu55Lys)	TUBA8 (E55K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3001102	NM_018943.3(TUBA8):c.368G>A (p.Arg123Gln)	TUBA8 (R57Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999653	NM_018943.3(TUBA8):c.578C>A (p.Thr193Asn)	TUBA8 (T127N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998793	NM_018943.3(TUBA8):c.246C>A (p.Thr82=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996347	NM_018943.3(TUBA8):c.232G>T (p.Val78Phe)	TUBA8 (V12F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994408	NM_018943.3(TUBA8):c.1143C>T (p.Thr381=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992007	NM_018943.3(TUBA8):c.226+17T>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991306	NM_018943.3(TUBA8):c.1198G>A (p.Ala400Thr)	TUBA8 (A400T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2988013	NM_018943.3(TUBA8):c.597T>C (p.Asp199=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982136	NM_018943.3(TUBA8):c.1174G>A (p.Asp392Asn)	TUBA8 (D392N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973233	NM_018943.3(TUBA8):c.543G>C (p.Val181=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969400	NM_018943.3(TUBA8):c.1186G>A (p.Asp396Asn)	TUBA8 (D396N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967845	NM_018943.3(TUBA8):c.1056+18A>G	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966603	NM_018943.3(TUBA8):c.1225G>A (p.Val409Met)	TUBA8 (V409M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964591	NM_018943.3(TUBA8):c.484G>A (p.Gly162Ser)	TUBA8 (G96S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962881	NM_018943.3(TUBA8):c.326C>T (p.Thr109Met)	TUBA8 (T43M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962511	NM_018943.3(TUBA8):c.894dup (p.Asn299fs)	TUBA8 (N233fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2959320	NM_018943.3(TUBA8):c.827T>C (p.Ile276Thr)	TUBA8 (I210T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907768	NM_018943.3(TUBA8):c.669C>G (p.Thr223=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897256	NM_018943.3(TUBA8):c.375+12_375+26del	TUBA8	Deletion (intron variant)	not provided	GUncertain significance
Select item 2897255	NM_018943.3(TUBA8):c.91C>T (p.Gln31Ter)	TUBA8 (Q31*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2890613	NM_018943.3(TUBA8):c.1279G>T (p.Ala427Ser)	TUBA8 (A361S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887976	NM_018943.3(TUBA8):c.1092C>T (p.Pro364=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886587	NM_018943.3(TUBA8):c.190C>T (p.Arg64Trp)	TUBA8 (R64W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2878403	NM_018943.3(TUBA8):c.441C>T (p.Ser147=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2876919	NM_018943.3(TUBA8):c.1122C>T (p.Ala374=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874055	NM_018943.3(TUBA8):c.969G>C (p.Val323=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859860	NM_018943.3(TUBA8):c.1295A>G (p.Tyr432Cys)	TUBA8 (Y366C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828179	NM_018943.3(TUBA8):c.621del (p.Ala208fs)	TUBA8 (A142fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2809639	NM_018943.3(TUBA8):c.158T>C (p.Phe53Ser)	TUBA8 (F53S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2802896	NM_018943.3(TUBA8):c.1224T>C (p.Tyr408=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795899	NM_018943.3(TUBA8):c.565C>T (p.Leu189=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795698	NM_018943.3(TUBA8):c.4-15T>C	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792769	NM_018943.3(TUBA8):c.432C>T (p.Gly144=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783231	NM_018943.3(TUBA8):c.840A>G (p.Lys280=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782773	NM_018943.3(TUBA8):c.175G>A (p.Gly59Arg)	TUBA8 (G59R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2780782	NM_018943.3(TUBA8):c.615C>A (p.Asp205Glu)	TUBA8 (D139E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776560	NM_018943.3(TUBA8):c.1167C>A (p.Ala389=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753491	NM_018943.3(TUBA8):c.4-19T>G	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752006	NM_018943.3(TUBA8):c.267A>G (p.Pro89=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2749558	NM_018943.3(TUBA8):c.688C>T (p.Leu230Phe)	TUBA8 (L230F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728839	NM_018943.3(TUBA8):c.362G>A (p.Arg121His)	TUBA8 (R121H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722711	NM_018943.3(TUBA8):c.1145C>T (p.Thr382Met)	TUBA8 (T316M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705075	NM_018943.3(TUBA8):c.867del (p.Glu290fs)	TUBA8 (E224fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2702454	NM_018943.3(TUBA8):c.916G>T (p.Asp306Tyr)	TUBA8 (D240Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696305	NM_018943.3(TUBA8):c.633C>T (p.Asp211=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684926	GRCh37/hg19 22q11.21(chr22:18291253-18644791)x3	MICAL3, PEX26 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684925	GRCh37/hg19 22q11.21(chr22:18253057-18649190)x3	BID, MICAL3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2555468	NM_018943.3(TUBA8):c.959G>T (p.Arg320Leu)	TUBA8 (R320L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546943	NM_018943.3(TUBA8):c.191G>A (p.Arg64Gln)	TUBA8 (R64Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	BID, CECR2 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2495638	NM_018943.3(TUBA8):c.709T>C (p.Ser237Pro)	TUBA8 (S171P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468507	NM_018943.3(TUBA8):c.1204C>T (p.Arg402Trp)	TUBA8 (R336W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2424215	NC_000022.10:g.(?_17565982)_(18613903_?)del	ADA2, ATP6V1E1 +11 more	Deletion	not provided	GUncertain significance
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Immunodeficiency 51 +1 more	GPathogenic
Select item 2420869	NM_018943.3(TUBA8):c.817G>A (p.Ala273Thr)	TUBA8 (A207T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2420734	NM_018943.3(TUBA8):c.1095G>A (p.Gly365=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2281812	NM_018943.3(TUBA8):c.466C>A (p.Arg156Ser)	TUBA8 (R90S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274372	NM_018943.3(TUBA8):c.449C>T (p.Thr150Ile)	TUBA8 (T84I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248724	NM_018943.3(TUBA8):c.949A>G (p.Met317Val)	TUBA8 (M317V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2216712	NM_018943.3(TUBA8):c.637T>G (p.Cys213Gly)	TUBA8 (C147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190781	NM_018943.3(TUBA8):c.1090C>T (p.Pro364Ser)	TUBA8 (P364S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189418	NM_018943.3(TUBA8):c.132C>T (p.Asn44=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2186368	NM_018943.3(TUBA8):c.417_418del (p.His139fs)	TUBA8 (H139fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2185092	NM_018943.3(TUBA8):c.648C>A (p.Asn216Lys)	TUBA8 (N150K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184022	NM_018943.3(TUBA8):c.361C>T (p.Arg121Cys)	TUBA8 (R121C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2183918	NM_018943.3(TUBA8):c.84C>T (p.His28=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2182080	NM_018943.3(TUBA8):c.1340A>G (p.Glu447Gly)	TUBA8 (E381G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165487	NM_018943.3(TUBA8):c.850G>A (p.Glu284Lys)	TUBA8 (E218K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164815	NM_018943.3(TUBA8):c.4-10C>T	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142891	NM_018943.3(TUBA8):c.196G>A (p.Val66Ile)	TUBA8 (V66I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2121334	NM_018943.3(TUBA8):c.685C>G (p.Arg229Gly)	TUBA8 (R229G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114266	NM_018943.3(TUBA8):c.629A>G (p.Tyr210Cys)	TUBA8 (Y210C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106593	NM_018943.3(TUBA8):c.967G>C (p.Val323Leu)	TUBA8 (V257L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097253	NM_018943.3(TUBA8):c.67C>G (p.Leu23Val)	TUBA8 (L23V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2092773	NM_018943.3(TUBA8):c.70T>C (p.Phe24Leu)	TUBA8 (F24L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2092399	NM_018943.3(TUBA8):c.785A>G (p.Tyr262Cys)	TUBA8 (Y196C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090276	NM_018943.3(TUBA8):c.1012A>G (p.Lys338Glu)	TUBA8 (K272E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087867	NM_018943.3(TUBA8):c.64G>A (p.Glu22Lys)	TUBA8 (E22K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2086424	NM_018943.3(TUBA8):c.1169G>A (p.Arg390His)	TUBA8 (R390H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080045	NM_018943.3(TUBA8):c.510C>T (p.Ala170=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078868	NM_018943.3(TUBA8):c.636C>A (p.Ile212=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076812	NM_018943.3(TUBA8):c.938T>C (p.Met313Thr)	TUBA8 (M247T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060681	NM_018943.3(TUBA8):c.712A>G (p.Ile238Val)	TUBA8 (I238V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049137	NM_018943.3(TUBA8):c.1137C>T (p.Ser379=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043403	NM_018943.3(TUBA8):c.347A>T (p.Asp116Val)	TUBA8 (D116V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036635	NM_018943.3(TUBA8):c.3+15G>T	LOC130066945, TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014625	NM_018943.3(TUBA8):c.376-16G>A	TUBA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009434	NM_018943.3(TUBA8):c.220G>C (p.Val74Leu)	TUBA8 (V8L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009356	NM_018943.3(TUBA8):c.198C>T (p.Val66=)	TUBA8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2004597	NM_018943.3(TUBA8):c.1251A>G (p.Glu417=)	TUBA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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