ClinVar for Gene (Select 10383) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366296	NM_006088.6(TUBB4B):c.775C>T (p.Pro259Ser)	TUBB4B (P259S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3364581	NM_006088.6(TUBB4B):c.1052C>T (p.Thr351Met)	TUBB4B (T351M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353114	NM_006088.6(TUBB4B):c.1334C>T (p.Ala445Val)	TUBB4B (A445V)	Single nucleotide variant (missense variant)	TUBB4B-related disorder	GUncertain significance
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 3343754	NM_006088.6(TUBB4B):c.1075C>T (p.Arg359Trp)	TUBB4B (R359W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245386	NC_000009.11:g.(?_140127344)_(140164869_?)del	CIMIP2A, NELFB +3 more	Deletion	not provided	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238676	GRCh38/hg38 9q34.3(chr9:137272928-137711050)	ARRDC1, ARRDC1-AS1 +71 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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 3069149	NM_006088.6(TUBB4B):c.1168C>T (p.Arg390Trp)	TUBB4B (R390W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis with early-onset deafness	GUncertain significance
Select item 3069148	NM_006088.6(TUBB4B):c.1169G>A (p.Arg390Gln)	TUBB4B (R390Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis with early-onset deafness	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
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 3055036	NM_006088.6(TUBB4B):c.252C>A (p.Ile84=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	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 3046952	NM_006088.6(TUBB4B):c.817C>T (p.Leu273=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
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 3036296	NM_006088.6(TUBB4B):c.1059C>T (p.Val353=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
Select item 3030908	NM_006088.6(TUBB4B):c.1227C>T (p.Thr409=)	TUBB4B	Single nucleotide variant (synonymous variant)	TUBB4B-related disorder	GLikely benign
Select item 3030687	NM_006088.6(TUBB4B):c.-18GCC[2]	TUBB4B	Microsatellite (5 prime UTR variant)	TUBB4B-related disorder	GLikely benign
Select item 3018751	NM_006088.6(TUBB4B):c.591C>T (p.Asp197=)	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 3017312	NM_006088.6(TUBB4B):c.687G>A (p.Val229=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014099	NM_006088.6(TUBB4B):c.306C>T (p.Ala102=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993456	NM_006088.6(TUBB4B):c.277+7C>G	TUBB4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981150	NM_006088.6(TUBB4B):c.531C>T (p.Asp177=)	TUBB4B	Single nucleotide variant (synonymous 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 2969009	NM_006088.6(TUBB4B):c.456C>T (p.Ile152=)	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 2965036	NM_006088.6(TUBB4B):c.855C>G (p.Thr285=)	TUBB4B	Single nucleotide variant (synonymous 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 2919559	NM_006088.6(TUBB4B):c.169G>A (p.Gly57Ser)	TUBB4B (G57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911761	NM_006088.6(TUBB4B):c.18C>T (p.His6=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900710	NM_006088.6(TUBB4B):c.1212C>T (p.Asp404=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900383	NM_006088.6(TUBB4B):c.60T>C (p.Phe20=)	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 2894275	NM_006088.6(TUBB4B):c.84C>T (p.His28=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893012	NM_006088.6(TUBB4B):c.277+6C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2888545	NM_006088.6(TUBB4B):c.48C>A (p.Ile16=)	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 2885066	NM_006088.6(TUBB4B):c.1290C>G (p.Ala430=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883631	NM_006088.6(TUBB4B):c.1308C>T (p.Phe436=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788208	NM_006088.6(TUBB4B):c.576C>G (p.Leu192=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786096	NM_006088.6(TUBB4B):c.27C>T (p.Ala9=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767773	NM_006088.6(TUBB4B):c.1302C>T (p.Gly434=)	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 2763330	NM_006088.6(TUBB4B):c.58-3T>C	TUBB4B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2754106	NM_006088.6(TUBB4B):c.278-3C>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2750565	NM_006088.6(TUBB4B):c.1233C>T (p.Ala411=)	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 2721139	NM_006088.6(TUBB4B):c.942C>T (p.Ala314=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720926	NM_006088.6(TUBB4B):c.642C>T (p.Thr214=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720498	NM_006088.6(TUBB4B):c.138C>T (p.Arg46=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	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 2713163	NM_006088.6(TUBB4B):c.278-4A>T	TUBB4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2695268	NM_006088.6(TUBB4B):c.1092C>T (p.Ser364=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2673209	NM_006088.6(TUBB4B):c.1206C>A (p.Gly402=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2576632	GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	ANAPC2, ARRDC1 +28 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2499276	NM_006088.6(TUBB4B):c.526_527delinsAT (p.Ser176Ile)	TUBB4B (S176I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2499116	NM_006088.6(TUBB4B):c.349C>T (p.Leu117=)	TUBB4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425752	NC_000009.11:g.(?_140036445)_(140138008_?)dup	ANAPC2, CYSRT1 +11 more	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	DPH7, MRPL41 +28 more	Deletion	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic

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