TUBB4B[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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	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)	not provided	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	GBenign
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	GLikely benign
Select item 3345751	NM_006088.6(TUBB4B):c.504T>C (p.Ser168=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	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	GBenign
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
Select item 2185798	NM_006088.6(TUBB4B):c.621C>G (p.Leu207=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2720926	NM_006088.6(TUBB4B):c.642C>T (p.Thr214=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401353	NM_006088.6(TUBB4B):c.665dup (p.Tyr222Ter)	TUBB4B (Y222*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1940289	NM_006088.6(TUBB4B):c.672C>T (p.Asp224=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902755	NM_006088.6(TUBB4B):c.682C>T (p.Leu228=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017312	NM_006088.6(TUBB4B):c.687G>A (p.Val229=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058134	NM_006088.6(TUBB4B):c.732C>T (p.Gly244=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
Select item 1649960	NM_006088.6(TUBB4B):c.738C>A (p.Leu246=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806624	NM_006088.6(TUBB4B):c.776C>T (p.Pro259Leu)	TUBB4B (P259L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678675	NM_006088.6(TUBB4B):c.784C>T (p.Arg262Trp)	TUBB4B (R262W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580024	NM_006088.6(TUBB4B):c.785G>A (p.Arg262Gln)	TUBB4B (R262Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046952	NM_006088.6(TUBB4B):c.817C>T (p.Leu273=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
Select item 2081675	NM_006088.6(TUBB4B):c.849G>A (p.Ala283=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050639	NM_006088.6(TUBB4B):c.852G>T (p.Leu284=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
Select item 2965036	NM_006088.6(TUBB4B):c.855C>G (p.Thr285=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536593	NM_006088.6(TUBB4B):c.861C>G (p.Pro287=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3069150	NM_006088.6(TUBB4B):c.928T>C (p.Tyr310His)	TUBB4B (Y310H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis with early-onset deafness	GUncertain significance
Select item 1477323	NM_006088.6(TUBB4B):c.935C>T (p.Thr312Met)	TUBB4B (T312M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721139	NM_006088.6(TUBB4B):c.942C>T (p.Ala314=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886616	NM_006088.6(TUBB4B):c.966C>T (p.Ser322=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897504	NM_006088.6(TUBB4B):c.978G>A (p.Val326=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967289	NM_006088.6(TUBB4B):c.1011C>T (p.Asn337=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709104	NM_006088.6(TUBB4B):c.1035C>T (p.Ile345=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1599752	NM_006088.6(TUBB4B):c.1044T>C (p.Asn348=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2188138	NM_006088.6(TUBB4B):c.1053G>A (p.Thr351=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036296	NM_006088.6(TUBB4B):c.1059C>T (p.Val353=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
Select item 1342143	NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser)	TUBB4B (P358S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis with early-onset deafness +1 more	GConflicting classifications of pathogenicity
Select item 3343754	NM_006088.6(TUBB4B):c.1075C>T (p.Arg359Trp)	TUBB4B (R359W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695268	NM_006088.6(TUBB4B):c.1092C>T (p.Ser364=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590086	NM_006088.6(TUBB4B):c.1140C>T (p.Arg380=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721197	NM_006088.6(TUBB4B):c.1146C>T (p.Ser382=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027239	NM_006088.6(TUBB4B):c.1159G>T (p.Ala387Ser)	TUBB4B (A387S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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