ClinVar for Gene (Select 10382) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 327

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383369	NM_006087.4(TUBB4A):c.883G>C (p.Asp295His)	TUBB4A (D223H +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 3374896	NM_006087.4(TUBB4A):c.1278G>A (p.Gln426=)	TUBB4A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3370133	NM_006087.3(TUBB4A):c.-117C>G	LOC130063296, TUBB4A (L13V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369842	NM_006087.4(TUBB4A):c.741C>G (p.Asn247Lys)	TUBB4A (N175K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368286	NM_006087.4(TUBB4A):c.1055C>T (p.Ala352Val)	TUBB4A (A280V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367992	NM_006087.4(TUBB4A):c.752G>A (p.Arg251His)	TUBB4A (R179H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366111	NM_006087.4(TUBB4A):c.338T>C (p.Val113Ala)	TUBB4A (V113A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363489	NM_006087.4(TUBB4A):c.16C>T (p.His6Tyr)	LOC130063295, TUBB4A (H51Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342281	NM_006087.4(TUBB4A):c.638G>A (p.Arg213His)	TUBB4A (R141H +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 3336788	NM_006087.4(TUBB4A):c.1052C>T (p.Thr351Met)	TUBB4A (T279M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 3336098	NM_006087.4(TUBB4A):c.-649_-317del333	LOC130063296, TUBB4A	Deletion (genic upstream transcript variant)	not specified	GUncertain significance
Select item 3251972	NM_006087.4(TUBB4A):c.925C>T (p.Arg309Cys)	TUBB4A (R237C +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 3251747	NM_006087.4(TUBB4A):c.-5C>G	LOC130063295, TUBB4A (T44S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251453	NC_000019.9:g.(?_6494329)_(6496233_6501297)dup	TUBB4A	Duplication	not specified	GBenign
Select item 3250838	NM_006087.4(TUBB4A):c.1290C>T (p.Ala430=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3239537	NM_006087.4(TUBB4A):c.1276C>G (p.Gln426Glu)	TUBB4A (Q354E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234646	NM_006087.4(TUBB4A):c.189G>C (p.Ala63=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3184759	NM_006087.4(TUBB4A):c.188C>T (p.Ala63Val)	TUBB4A (A114V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061830	NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)	TUBB4A (M195T +3 more)	Single nucleotide variant (missense variant)	Brown syndrome	GUncertain significance
Select item 3056784	NM_006087.4(TUBB4A):c.681C>T (p.His227=)	TUBB4A	Single nucleotide variant (synonymous variant)	TUBB4A-related disorder	GLikely benign
Select item 3029031	NM_006087.4(TUBB4A):c.166+7C>A	TUBB4A	Single nucleotide variant (intron variant)	TUBB4A-related disorder	GLikely benign
Select item 3026871	NM_006087.4(TUBB4A):c.945C>A (p.Ala315=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018636	NM_006087.4(TUBB4A):c.436G>A (p.Gly146Arg)	TUBB4A (G74R +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 3001566	NM_006087.4(TUBB4A):c.1131G>A (p.Leu377=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2995595	NM_006087.4(TUBB4A):c.480A>G (p.Pro160=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2991299	NM_006087.4(TUBB4A):c.909C>T (p.Cys303=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2986283	NM_006087.4(TUBB4A):c.953G>A (p.Arg318Gln)	TUBB4A (R318Q +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2963795	NM_006087.4(TUBB4A):c.1045G>A (p.Val349Met)	TUBB4A (V400M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2963390	NM_006087.4(TUBB4A):c.1080C>A (p.Gly360=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2955262	NM_006087.4(TUBB4A):c.369G>A (p.Glu123=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2915277	NM_006087.4(TUBB4A):c.57+11A>G	LOC130063295, TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2913815	NM_006087.4(TUBB4A):c.810C>T (p.Phe270=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2908996	NM_006087.4(TUBB4A):c.721C>T (p.Arg241Cys)	TUBB4A (R241C +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2904376	NM_006087.4(TUBB4A):c.343G>A (p.Ala115Thr)	TUBB4A (A115T +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2900834	NM_006087.4(TUBB4A):c.1024G>A (p.Val342Met)	TUBB4A (V270M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2898366	NM_006087.4(TUBB4A):c.618A>G (p.Ala206=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2895757	NM_006087.4(TUBB4A):c.1038C>A (p.Pro346=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2885402	NM_006087.4(TUBB4A):c.552C>T (p.Asn184=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2874297	NM_006087.4(TUBB4A):c.1196C>T (p.Thr399Met)	TUBB4A (T327M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2865613	NM_006087.4(TUBB4A):c.415C>T (p.Leu139=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2852798	NM_006087.4(TUBB4A):c.903G>A (p.Ala301=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2843042	NM_006087.4(TUBB4A):c.755A>G (p.Lys252Arg)	TUBB4A (K297R +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GPathogenic
Select item 2834880	NM_006087.4(TUBB4A):c.1078G>C (p.Gly360Arg)	TUBB4A (G405R +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2819392	NM_006087.4(TUBB4A):c.102C>T (p.Gly34=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2816328	NM_006087.4(TUBB4A):c.414G>A (p.Ser138=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2800381	NM_006087.4(TUBB4A):c.411C>T (p.His137=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2761007	NM_006087.4(TUBB4A):c.278-14C>T	TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2752811	NM_006087.4(TUBB4A):c.24G>T (p.Gln8His)	LOC130063295, TUBB4A (Q8H +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2747953	NM_006087.4(TUBB4A):c.166+9A>G	TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2742251	NM_006087.4(TUBB4A):c.1198G>A (p.Gly400Ser)	TUBB4A (G400S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2738501	NM_006087.4(TUBB4A):c.189G>T (p.Ala63=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2733084	NM_006087.4(TUBB4A):c.936C>T (p.Thr312=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2723541	NM_006087.4(TUBB4A):c.1216A>T (p.Met406Leu)	TUBB4A (M334L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2721401	NM_006087.4(TUBB4A):c.996C>T (p.Ser332=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2671667	NM_001289123.2(TUBB4A):c.10G>A (p.Gly4Arg)	TUBB4A (G4R)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2649140	NM_006087.4(TUBB4A):c.277+538_277+541dup	TUBB4A	Duplication (intron variant)	not provided	GBenign
Select item 2649139	NM_006087.4(TUBB4A):c.291C>T (p.Ala97=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649138	NM_006087.4(TUBB4A):c.504C>T (p.Ser168=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649137	NM_006087.4(TUBB4A):c.1287G>C (p.Thr429=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636667	NM_001289123.2(TUBB4A):c.56C>A (p.Pro19Gln)	LOC130063296, TUBB4A (P13Q +1 more)	Single nucleotide variant (missense variant +1 more)	TUBB4A-related disorder	GUncertain significance
Select item 2582966	NM_006087.4(TUBB4A):c.612C>T (p.Asn204=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578225	NM_006087.4(TUBB4A):c.902C>T (p.Ala301Val)	TUBB4A (A229V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2572847	NM_006087.4(TUBB4A):c.523G>A (p.Val175Met)	TUBB4A (V103M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2506875	NM_006087.4(TUBB4A):c.1139G>T (p.Arg380Leu)	TUBB4A (R308L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498749	NM_001289129.2(TUBB4A):c.-75G>C	TUBB4A (R3S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442020	NM_006087.4(TUBB4A):c.211G>A (p.Gly71Ser)	TUBB4A (G116S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely pathogenic
Select item 2442015	NM_006087.4(TUBB4A):c.1289C>A (p.Ala430Asp)	TUBB4A (A358D +3 more)	Single nucleotide variant (missense variant)	Torsion dystonia 4	GUncertain significance
Select item 2438437	NM_006087.4(TUBB4A):c.537G>A (p.Val179=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2431596	NM_006087.4(TUBB4A):c.740A>T (p.Asn247Ile)	TUBB4A (N175I +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2425510	NC_000019.9:g.(?_6495175)_(6502223_?)del	TUBB4A	Deletion	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2425509	NC_000019.9:g.(?_6495175)_(6496252_?)del	TUBB4A	Deletion	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2413474	NM_006087.4(TUBB4A):c.1206C>T (p.Gly402=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2291502	NM_006087.4(TUBB4A):c.115G>T (p.Asp39Tyr)	TUBB4A (D39Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270493	NM_006087.4(TUBB4A):c.845G>A (p.Arg282Gln)	TUBB4A (R333Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203588	NM_006087.4(TUBB4A):c.1316_1327del (p.Ala439_Glu442del)	TUBB4A	Deletion (inframe_deletion)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2197979	NM_006087.4(TUBB4A):c.1093G>A (p.Ala365Thr)	TUBB4A (A416T +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2197833	NM_006087.4(TUBB4A):c.882C>T (p.Phe294=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2195059	NM_006087.4(TUBB4A):c.466C>T (p.Arg156Cys)	TUBB4A (R201C +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2194271	NM_006087.4(TUBB4A):c.157G>A (p.Glu53Lys)	TUBB4A (E104K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2183933	NM_006087.4(TUBB4A):c.1104C>T (p.Ile368=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2183154	NM_006087.4(TUBB4A):c.906G>C (p.Ala302=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2165592	NM_006087.4(TUBB4A):c.954G>C (p.Arg318=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2157076	NM_006087.4(TUBB4A):c.58-12CT[4]	TUBB4A	Microsatellite (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2150798	NM_006087.4(TUBB4A):c.1331C>T (p.Ala444Val)	TUBB4A (A489V +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2146314	NM_006087.4(TUBB4A):c.606C>T (p.Ile202=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2145108	NM_006087.4(TUBB4A):c.852G>A (p.Leu284=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2138804	NM_006087.4(TUBB4A):c.162C>T (p.Ala54=)	TUBB4A	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2135411	NM_006087.4(TUBB4A):c.1060T>A (p.Cys354Ser)	TUBB4A (C282S +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2124806	NM_006087.4(TUBB4A):c.737T>C (p.Leu246Pro)	TUBB4A (L174P +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6 +1 more	GConflicting classifications of pathogenicity
Select item 2124259	NM_006087.4(TUBB4A):c.914C>T (p.Pro305Leu)	TUBB4A (P233L +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance
Select item 2088520	NM_006087.4(TUBB4A):c.577G>A (p.Val193Met)	TUBB4A (V244M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2083605	NM_006087.4(TUBB4A):c.166+8G>A	TUBB4A	Single nucleotide variant (intron variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2068907	NM_006087.4(TUBB4A):c.414G>T (p.Ser138=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2062405	NM_006087.4(TUBB4A):c.36C>T (p.Cys12=)	LOC130063295, TUBB4A	Single nucleotide variant (synonymous variant +2 more)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2062230	NM_006087.4(TUBB4A):c.234T>C (p.Ser78=)	TUBB4A	Single nucleotide variant (synonymous variant)	Hypomyelinating leukodystrophy 6	GLikely benign
Select item 2055825	NM_006087.4(TUBB4A):c.429G>A (p.Thr143=)	TUBB4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2033779	NM_006087.4(TUBB4A):c.535G>A (p.Val179Met)	TUBB4A (V224M +3 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 6	GUncertain significance

<< First< Prev

Page of 4