"Ambry Genetics"[submitter] AND "MCMBP"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

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Items: 32