ClinVar for Gene (Select 100509894) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060878	NM_001872.5(CPB2):c.291T>C (p.Asp97=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related condition	GBenign
Select item 3060410	NM_001872.5(CPB2):c.663A>G (p.Pro221=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant +1 more)	CPB2-related condition	GBenign
Select item 3059667	NM_001872.5(CPB2):c.505G>A (p.Ala169Thr)	CPB2, CPB2-AS1 (A169T)	Single nucleotide variant (missense variant)	CPB2-related condition	GBenign
Select item 3059439	NM_001872.5(CPB2):c.753C>T (p.Ile251=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related condition	GBenign
Select item 3059117	NM_001872.5(CPB2):c.678T>C (p.Asp226=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant +1 more)	CPB2-related condition	GBenign
Select item 3058934	NM_001872.5(CPB2):c.1040T>C (p.Ile347Thr)	CPB2, CPB2-AS1 (I310T +1 more)	Single nucleotide variant (missense variant)	CPB2-related condition	GBenign
Select item 3039073	NM_001872.5(CPB2):c.552A>G (p.Glu184=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related condition	GLikely benign
Select item 3035536	NM_001872.5(CPB2):c.1215T>C (p.Cys405=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	CPB2-related condition	GLikely benign
Select item 2611729	NM_001872.5(CPB2):c.353C>T (p.Ser118Leu)	CPB2, CPB2-AS1 (S118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599577	NM_001872.5(CPB2):c.197A>C (p.Lys66Thr)	CPB2, CPB2-AS1 (K66T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597517	NM_001872.5(CPB2):c.1006G>T (p.Val336Leu)	CPB2, CPB2-AS1 (V336L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591548	NM_001872.5(CPB2):c.737C>T (p.Ala246Val)	CPB2, CPB2-AS1 (A246V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476906	NM_001872.5(CPB2):c.1081A>G (p.Thr361Ala)	CPB2, CPB2-AS1 (T361A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463338	NM_001872.5(CPB2):c.1184T>C (p.Leu395Ser)	CPB2, CPB2-AS1 (L395S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333802	NM_001872.5(CPB2):c.1018G>A (p.Ala340Thr)	CPB2-AS1, CPB2 (A303T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762353	NM_001872.5(CPB2):c.75-4C>G	CPB2, CPB2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713135	NM_001872.5(CPB2):c.735T>C (p.Tyr245=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710029	NM_001872.5(CPB2):c.426T>C (p.Asp142=)	CPB2, CPB2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +992 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +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	LRRC63, MED4 +612 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +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	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009913, LOC130009914 +733 more	Copy number loss	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	AKAP11, ALG11 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LOC130009813, LOC130009814 +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	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +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	LOC130009757, LOC130009758 +780 more	Copy number loss	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	MIR20A, MIR3169 +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: 47