ClinVar for Gene (Select 220082) - ClinVar

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Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3138110	NM_152719.3(CBY2):c.990G>A (p.Met330Ile)	CBY2 (M303I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138109	NM_152719.3(CBY2):c.864C>G (p.His288Gln)	CBY2 (H252Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138108	NM_152719.3(CBY2):c.806C>T (p.Ala269Val)	CBY2 (A233V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138107	NM_152719.3(CBY2):c.712G>A (p.Val238Met)	CBY2 (V202M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138106	NM_152719.3(CBY2):c.683T>C (p.Val228Ala)	CBY2 (V201A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138105	NM_152719.3(CBY2):c.644C>G (p.Pro215Arg)	CBY2 (P179R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138103	NM_152719.3(CBY2):c.631G>A (p.Glu211Lys)	CBY2 (E184K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138102	NM_152719.3(CBY2):c.600G>C (p.Trp200Cys)	CBY2 (W164C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138101	NM_152719.3(CBY2):c.591G>C (p.Gln197His)	CBY2 (Q197H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138100	NM_152719.3(CBY2):c.584T>C (p.Ile195Thr)	CBY2 (I195T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138099	NM_152719.3(CBY2):c.577A>G (p.Asn193Asp)	CBY2 (N166D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138098	NM_152719.3(CBY2):c.550G>A (p.Glu184Lys)	CBY2 (E184K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138097	NM_152719.3(CBY2):c.547C>A (p.Arg183Ser)	CBY2 (R147S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138096	NM_152719.3(CBY2):c.511G>A (p.Glu171Lys)	CBY2 (E135K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138095	NM_152719.3(CBY2):c.331G>A (p.Asp111Asn)	CBY2 (D75N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138094	NM_152719.3(CBY2):c.307A>G (p.Met103Val)	CBY2 (M67V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138093	NM_152719.3(CBY2):c.1342G>T (p.Val448Phe)	CBY2 (V448F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138092	NM_152719.3(CBY2):c.1312A>G (p.Arg438Gly)	CBY2 (R438G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138091	NM_152719.3(CBY2):c.1295A>G (p.Tyr432Cys)	CBY2 (Y432C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138090	NM_152719.3(CBY2):c.1285G>A (p.Glu429Lys)	CBY2 (E402K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138089	NM_152719.3(CBY2):c.1272G>C (p.Met424Ile)	CBY2 (M388I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138088	NM_152719.3(CBY2):c.122G>A (p.Ser41Asn)	CBY2 (S41N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138087	NM_152719.3(CBY2):c.1199T>C (p.Leu400Pro)	CBY2 (L364P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138086	NM_152719.3(CBY2):c.107A>G (p.Asp36Gly)	CBY2 (D36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138085	NM_152719.3(CBY2):c.1051G>A (p.Asp351Asn)	CBY2 (D324N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138084	NM_152719.3(CBY2):c.1046T>G (p.Leu349Arg)	CBY2 (L313R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	AKAP11, ALG11 +119 more	Copy number loss	not provided	GPathogenic
Select item 2643805	NM_152719.3(CBY2):c.157-8T>C	CBY2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2621192	NM_152719.3(CBY2):c.957G>T (p.Glu319Asp)	CBY2 (E292D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620740	NM_152719.3(CBY2):c.1316G>T (p.Ser439Ile)	CBY2 (S403I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597820	NM_152719.3(CBY2):c.1212C>G (p.Asn404Lys)	CBY2 (N368K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549878	NM_152719.3(CBY2):c.874T>G (p.Cys292Gly)	CBY2 (C292G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543182	NM_152719.3(CBY2):c.641C>T (p.Ala214Val)	CBY2 (A178V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535092	NM_152719.3(CBY2):c.1101G>C (p.Gln367His)	CBY2 (Q340H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509504	NM_152719.3(CBY2):c.625C>G (p.Arg209Gly)	CBY2 (R182G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509027	NM_152719.3(CBY2):c.1034T>C (p.Val345Ala)	CBY2 (V309A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495625	NM_152719.3(CBY2):c.304C>T (p.Pro102Ser)	CBY2 (P75S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490023	NM_152719.3(CBY2):c.1140C>G (p.Asn380Lys)	CBY2 (N380K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485239	NM_152719.3(CBY2):c.719G>A (p.Arg240His)	CBY2 (R204H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469756	NM_152719.3(CBY2):c.862C>G (p.His288Asp)	CBY2 (H252D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463871	NM_152719.3(CBY2):c.151C>T (p.Pro51Ser)	CBY2 (P51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340814	GRCh37/hg19 13q14.13(chr13:46010135-46340614)x3	CBY2, COG3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ALG11, ARL11 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 564026	GRCh37/hg19 13q14.13(chr13:46018969-46328237)x3	CBY2, COG3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	AKAP11, ARL11 +437 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	AKAP11, ALG11 +612 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 151243	GRCh38/hg38 13q14.13(chr13:45690029-45772711)x3	CBY2, LINC01055 +2 more	Copy number gain	See cases	GLikely benign
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LINC00434, LINC00437 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	ARL11, CAB39L +215 more	Copy number loss	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	AKAP11, ALG11 +780 more	Copy number loss	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	ACOD1, ALG11 +657 more	Copy number loss	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 95