MCMBP[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 more	Copy number gain	See cases	GPathogenic
Select item 152715	GRCh38/hg38 10q26.11(chr10:119671382-119835587)x3	BAG3, INPP5F +12 more	Copy number gain	See cases	GUncertain significance
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 3124424	NM_001256378.2(MCMBP):c.1805C>G (p.Ser602Cys)	MCMBP (S604C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293716	NM_001256378.2(MCMBP):c.1772T>C (p.Leu591Pro)	MCMBP (L418P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612706	NM_001256378.2(MCMBP):c.1767T>G (p.Asp589Glu)	MCMBP (D591E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124423	NM_001256378.2(MCMBP):c.1658T>C (p.Leu553Pro)	MCMBP (L555P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205559	NM_001256378.2(MCMBP):c.1634T>A (p.Val545Glu)	MCMBP (V545E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543106	NM_001256378.2(MCMBP):c.1482G>C (p.Gln494His)	MCMBP (Q496H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293715	NM_001256378.2(MCMBP):c.1309A>G (p.Thr437Ala)	MCMBP (T264A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223599	NM_001256378.2(MCMBP):c.1250G>A (p.Arg417His)	MCMBP (R419H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361417	NM_001256378.2(MCMBP):c.1249C>T (p.Arg417Cys)	MCMBP (R417C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124422	NM_001256378.2(MCMBP):c.1217G>A (p.Arg406Gln)	MCMBP (R408Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315834	NM_001256378.2(MCMBP):c.1114A>C (p.Ile372Leu)	MCMBP (I372L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124421	NM_001256378.2(MCMBP):c.1073T>C (p.Leu358Pro)	MCMBP (L358P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531483	NM_001256378.2(MCMBP):c.1021G>A (p.Glu341Lys)	MCMBP (E168K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124431	NM_001256378.2(MCMBP):c.970G>A (p.Ala324Thr)	MCMBP (A324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124430	NM_001256378.2(MCMBP):c.705G>T (p.Lys235Asn)	MCMBP (K62N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209522	NM_001256378.2(MCMBP):c.655C>G (p.Leu219Val)	MCMBP (L219V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124429	NM_001256378.2(MCMBP):c.647T>C (p.Leu216Pro)	MCMBP (L43P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283854	NM_001256378.2(MCMBP):c.598T>C (p.Cys200Arg)	MCMBP (C200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341860	NM_001256378.2(MCMBP):c.536A>G (p.Asn179Ser)	MCMBP (N6S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593522	NM_001256378.2(MCMBP):c.521T>C (p.Met174Thr)	MCMBP (M174T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124428	NM_001256378.2(MCMBP):c.520A>G (p.Met174Val)	MCMBP (M174V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124426	NM_001256378.2(MCMBP):c.443C>T (p.Ala148Val)	MCMBP (A148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225089	NM_001256378.2(MCMBP):c.434A>G (p.Tyr145Cys)	MCMBP (Y145C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124425	NM_001256378.2(MCMBP):c.430G>A (p.Ala144Thr)	MCMBP (A144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370171	NM_001256378.2(MCMBP):c.416C>T (p.Thr139Met)	MCMBP (T139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293718	NM_001256378.2(MCMBP):c.397C>G (p.Pro133Ala)	MCMBP (P133A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293717	NM_001256378.2(MCMBP):c.320A>G (p.Glu107Gly)	MCMBP (E107G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489816	NM_001256378.2(MCMBP):c.284A>G (p.His95Arg)	MCMBP (H95R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2487835	NM_001256378.2(MCMBP):c.253T>C (p.Tyr85His)	MCMBP (Y85H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640881	NM_001256378.2(MCMBP):c.201A>G (p.Lys67=)	MCMBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2300453	NM_001256378.2(MCMBP):c.54C>G (p.Phe18Leu)	LOC130004861, MCMBP (F18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337247	NM_001256378.2(MCMBP):c.52T>A (p.Phe18Ile)	LOC130004861, MCMBP (F18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124427	NM_001256378.2(MCMBP):c.46C>G (p.Gln16Glu)	LOC130004861, MCMBP (Q16E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1808316	GRCh37/hg19 10q26.11-26.12(chr10:121307376-121700959)x3	BAG3, INPP5F +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 69