CACNA1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +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	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	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 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 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	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 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 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 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 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 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 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 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 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 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 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 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 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 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 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 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 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 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 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 3238710	GRCh38/hg38 9q34.3(chr9:137361253-138125937)	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	ARRDC1, ARRDC1-AS1 +66 more	Copy number gain	See cases	GPathogenic
Select item 3238720	GRCh38/hg38 9q34.3(chr9:137456472-138100471)	ARRDC1, ARRDC1-AS1 +52 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59152	GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1	LOC130003125, LOC130003126 +49 more	Copy number loss	See cases	GPathogenic
Select item 3238726	GRCh38/hg38 9q34.3(chr9:137505613-138394717)	ARRDC1, ARRDC1-AS1 +49 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238692	GRCh38/hg38 9q34.3(chr9:137505548-138105548)	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238693	GRCh38/hg38 9q34.3(chr9:138125938-138394717)	ARRDC1, ARRDC1-AS1 +48 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238665	GRCh38/hg38 9q34.3(chr9:137710967-138069763)	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59153	GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	See cases	GPathogenic
Select item 3238660	GRCh38/hg38 9q34.3(chr9:137552081-137879159)	ARRDC1, ARRDC1-AS1 +40 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238724	GRCh38/hg38 9q34.3(chr9:137757880-137971592)	ARRDC1, ARRDC1-AS1 +40 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238728	GRCh38/hg38 9q34.3(chr9:137574569-138112014)	ARRDC1, ARRDC1-AS1 +42 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238712	GRCh38/hg38 9q34.3(chr9:137574569-138212068)	ARRDC1, ARRDC1-AS1 +43 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238732	GRCh38/hg38 9q34.3(chr9:137716626-138059189)	ARRDC1, ARRDC1-AS1 +36 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238713	GRCh38/hg38 9q34.3(chr9:137710967-137917437)	ARRDC1, ARRDC1-AS1 +33 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59155	GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	LOC130003141, LOC130003142 +33 more	Copy number loss	See cases	GPathogenic
Select item 627648	NC_000009.12:g.137604238_138131469dup	ARRDC1, ARRDC1-AS1 +33 more	Duplication	9q34 microduplication syndrome	GPathogenic
Select item 3238675	GRCh38/hg38 9q34.3(chr9:137710967-137986854)	ARRDC1, ARRDC1-AS1 +30 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238698	GRCh38/hg38 9q34.3(chr9:137614558-138394717)	ARRDC1, ARRDC1-AS1 +33 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238721	GRCh38/hg38 9q34.3(chr9:137615623-137984254)	ARRDC1, ARRDC1-AS1 +28 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59156	GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1	CACNA1B, CACNA1B-AS1 +24 more	Copy number loss	See cases	GPathogenic
Select item 59944	GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3	CACNA1B, EHMT1 +21 more	Copy number gain	See cases	GPathogenic
Select item 3238696	GRCh38/hg38 9q34.3(chr9:137640986-138143864)	CACNA1B, CACNA1B-AS1 +25 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238662	GRCh38/hg38 9q34.3(chr9:137728349-138052188)	CACNA1B, CACNA1B-AS1 +21 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154694	GRCh38/hg38 9q34.3(chr9:137763015-137902180)x3	CACNA1B, EHMT1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 3238718	GRCh38/hg38 9q34.3(chr9:137778047-138231664)	CACNA1B, CACNA1B-AS1 +13 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238705	GRCh38/hg38 9q34.3(chr9:137782789-138068654)	CACNA1B, CACNA1B-AS1 +11 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238670	GRCh38/hg38 9q34.3(chr9:137800900-138059181)	CACNA1B, CACNA1B-AS1 +10 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 151742	GRCh38/hg38 9q34.3(chr9:137810632-138104468)x3	CACNA1B, CACNA1B-AS1 +9 more	Copy number gain	See cases	GLikely benign
Select item 149190	GRCh38/hg38 9q34.3(chr9:137830545-138124532)x3	CACNA1B, CACNA1B-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 144171	GRCh38/hg38 9q34.3(chr9:137862611-138059695)x3	CACNA1B, CACNA1B-AS1 +5 more	Copy number gain	See cases	GBenign
Select item 1286347	NC_000009.12:g.137877547C>T	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GBenign
Select item 1267900	NC_000009.12:g.137877578C>A	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GBenign
Select item 1183389	NC_000009.12:g.137877642C>A	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GBenign
Select item 1326615	NC_000009.12:g.137877731C>T	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GLikely benign
Select item 3029672	NM_000718.4(CACNA1B):c.-7G>T	CACNA1B, LOC100133077	Single nucleotide variant (5 prime UTR variant)	CACNA1B-related disorder	GLikely benign
Select item 2673210	NM_000718.4(CACNA1B):c.6C>G (p.Val2=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755444	NM_000718.4(CACNA1B):c.9C>T (p.Arg3=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659842	NM_000718.4(CACNA1B):c.18C>A (p.Asp6Glu)	CACNA1B, LOC100133077 (D6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321510	NM_000718.4(CACNA1B):c.18C>T (p.Asp6=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 374676	NM_000718.4(CACNA1B):c.30C>T (p.Gly10=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659843	NM_000718.4(CACNA1B):c.42C>T (p.Gly14=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1222494	NM_000718.4(CACNA1B):c.49G>A (p.Gly17Ser)	CACNA1B, LOC100133077 (G17S)	Single nucleotide variant (missense variant)	not provided	GBenign

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