TUBB4B[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 189

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	LOC130003113, LOC130003114 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 154677	GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	ANAPC2, CIMIP2A +43 more	Copy number gain	See cases	GBenign
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 1245035	NM_006088.6(TUBB4B):c.-62G>T	TUBB4B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1182505	NM_006088.6(TUBB4B):c.-29C>A	TUBB4B	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3045573	NM_006088.6(TUBB4B):c.-18GCC[7]	TUBB4B	Microsatellite (5 prime UTR variant)	TUBB4B-related disorder	GLikely benign
Select item 3041694	NM_006088.6(TUBB4B):c.-18GCC[4]	TUBB4B	Microsatellite (5 prime UTR variant)	TUBB4B-related disorder	GBenign
Select item 3030687	NM_006088.6(TUBB4B):c.-18GCC[2]	TUBB4B	Microsatellite (5 prime UTR variant)	TUBB4B-related disorder	GLikely benign
Select item 1608124	NM_006088.6(TUBB4B):c.12C>T (p.Ile4=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2911761	NM_006088.6(TUBB4B):c.18C>T (p.His6=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1685193	NM_006088.6(TUBB4B):c.19T>G (p.Leu7Val)	TUBB4B (L7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2786096	NM_006088.6(TUBB4B):c.27C>T (p.Ala9=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888545	NM_006088.6(TUBB4B):c.48C>A (p.Ile16=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552996	NM_006088.6(TUBB4B):c.57+10C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1956711	NM_006088.6(TUBB4B):c.57+15C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897684	NM_006088.6(TUBB4B):c.58-16C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414321	NM_006088.6(TUBB4B):c.58-7C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970929	NM_006088.6(TUBB4B):c.58-4dup	TUBB4B	Duplication (intron variant)	not provided	GLikely benign
Select item 2763330	NM_006088.6(TUBB4B):c.58-3T>C	TUBB4B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2900383	NM_006088.6(TUBB4B):c.60T>C (p.Phe20=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488406	NM_006088.6(TUBB4B):c.76G>C (p.Asp26His)	TUBB4B (D26H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2894275	NM_006088.6(TUBB4B):c.84C>T (p.His28=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939228	NM_006088.6(TUBB4B):c.108C>T (p.Tyr36=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017654	NM_006088.6(TUBB4B):c.111C>T (p.His37=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542596	NM_006088.6(TUBB4B):c.117C>T (p.Asp39=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766086	NM_006088.6(TUBB4B):c.120C>T (p.Ser40=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1613507	NM_006088.6(TUBB4B):c.123C>T (p.Asp41=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2720498	NM_006088.6(TUBB4B):c.138C>T (p.Arg46=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541662	NM_006088.6(TUBB4B):c.144C>T (p.Asn48=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635470	NM_006088.6(TUBB4B):c.162C>T (p.Ala54=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181572	NM_006088.6(TUBB4B):c.166+7C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648284	NM_006088.6(TUBB4B):c.166+10C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229835	NM_006088.6(TUBB4B):c.166+13C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1644163	NM_006088.6(TUBB4B):c.167-12C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919559	NM_006088.6(TUBB4B):c.169G>A (p.Gly57Ser)	TUBB4B (G57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741446	NM_006088.6(TUBB4B):c.189C>G (p.Ala63=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder +1 more	GLikely benign
Select item 2083785	NM_006088.6(TUBB4B):c.207G>A (p.Glu69=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655181	NM_006088.6(TUBB4B):c.240C>T (p.Pro80=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608062	NM_006088.6(TUBB4B):c.243C>T (p.Phe81=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3055036	NM_006088.6(TUBB4B):c.252C>A (p.Ile84=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
Select item 2893012	NM_006088.6(TUBB4B):c.277+6C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2993456	NM_006088.6(TUBB4B):c.277+7C>G	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665790	NM_006088.6(TUBB4B):c.277+7C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960907	NM_006088.6(TUBB4B):c.277+15G>C	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271319	NM_006088.6(TUBB4B):c.278-119C>G	TUBB4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2107849	NM_006088.6(TUBB4B):c.278-16C>G	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713163	NM_006088.6(TUBB4B):c.278-4A>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1912997	NM_006088.6(TUBB4B):c.278-4A>G	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754106	NM_006088.6(TUBB4B):c.278-3C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014099	NM_006088.6(TUBB4B):c.306C>T (p.Ala102=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178961	NM_006088.6(TUBB4B):c.318C>T (p.Tyr106=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076921	NM_006088.6(TUBB4B):c.327C>T (p.Gly109=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1564039	NM_006088.6(TUBB4B):c.334C>T (p.Leu112=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1933252	NM_006088.6(TUBB4B):c.345G>T (p.Ser115=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499116	NM_006088.6(TUBB4B):c.349C>T (p.Leu117=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190195	NM_006088.6(TUBB4B):c.402G>A (p.Gln134=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969009	NM_006088.6(TUBB4B):c.456C>T (p.Ile152=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552871	NM_006088.6(TUBB4B):c.474G>A (p.Glu158=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2718892	NM_006088.6(TUBB4B):c.516G>A (p.Ser172=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499276	NM_006088.6(TUBB4B):c.526_527delinsAT (p.Ser176Ile)	TUBB4B (S176I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2981150	NM_006088.6(TUBB4B):c.531C>T (p.Asp177=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178922	NM_006088.6(TUBB4B):c.534A>G (p.Thr178=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920674	NM_006088.6(TUBB4B):c.537G>C (p.Val179=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075356	NM_006088.6(TUBB4B):c.552C>T (p.Asn184=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056935	NM_006088.6(TUBB4B):c.561C>T (p.Leu187=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 774889	NM_006088.6(TUBB4B):c.567C>T (p.Val189=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2788208	NM_006088.6(TUBB4B):c.576C>G (p.Leu192=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 931932	NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs)	TUBB4B (T196fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis with early-onset deafness	GUncertain significance
Select item 3018751	NM_006088.6(TUBB4B):c.591C>T (p.Asp197=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636200	NM_006088.6(TUBB4B):c.597C>T (p.Thr199=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2