"Ambry Genetics"[submitter] AND "MCM4"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626134	NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)	LOC130000338, MCM4 (R11G)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GUncertain significance
Select item 3124353	NM_182746.3(MCM4):c.38G>T (p.Ser13Ile)	LOC130000338, MCM4 (S13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305556	NM_182746.3(MCM4):c.67A>C (p.Thr23Pro)	LOC130000338, MCM4 (T23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1444895	NM_182746.3(MCM4):c.110G>A (p.Arg37His)	MCM4 (R37H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1523153	NM_182746.3(MCM4):c.128C>T (p.Thr43Ile)	MCM4 (T43I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2264439	NM_182746.3(MCM4):c.148C>T (p.Pro50Ser)	MCM4 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 908952	NM_182746.3(MCM4):c.157A>G (p.Thr53Ala)	MCM4 (T53A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2328784	NM_182746.3(MCM4):c.167G>A (p.Gly56Glu)	MCM4 (G56E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1444672	NM_182746.3(MCM4):c.169G>A (p.Val57Met)	MCM4 (V57M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 363214	NM_182746.3(MCM4):c.199G>A (p.Val67Met)	MCM4 (V67M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1954801	NM_182746.3(MCM4):c.283C>G (p.Pro95Ala)	MCM4 (P95A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2295612	NM_182746.3(MCM4):c.326G>A (p.Gly109Asp)	MCM4 (G109D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439273	NM_182746.3(MCM4):c.526C>A (p.Pro176Thr)	MCM4 (P176T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1490136	NM_182746.3(MCM4):c.556A>G (p.Ile186Val)	MCM4 (I186V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1502456	NM_182746.3(MCM4):c.565A>C (p.Thr189Pro)	MCM4 (T189P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3124354	NM_182746.3(MCM4):c.668A>G (p.Tyr223Cys)	MCM4 (Y223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289499	NM_182746.3(MCM4):c.683C>G (p.Ser228Cys)	MCM4 (S228C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124355	NM_182746.3(MCM4):c.752A>G (p.Asp251Gly)	MCM4 (D251G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207483	NM_182746.3(MCM4):c.791A>G (p.Asn264Ser)	MCM4 (N264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 363221	NM_182746.3(MCM4):c.811A>G (p.Met271Val)	MCM4 (M271V)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GUncertain significance
Select item 1982747	NM_182746.3(MCM4):c.833A>G (p.Asp278Gly)	MCM4 (D278G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 911936	NM_182746.3(MCM4):c.899A>G (p.Gln300Arg)	MCM4 (Q300R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 363226	NM_182746.3(MCM4):c.940C>T (p.Arg314Trp)	MCM4 (R314W)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2415273	NM_182746.3(MCM4):c.955C>T (p.Arg319Cys)	MCM4 (R319C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2235315	NM_182746.3(MCM4):c.956G>A (p.Arg319His)	MCM4 (R319H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1360551	NM_182746.3(MCM4):c.985G>A (p.Gly329Arg)	MCM4 (G329R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3293682	NM_182746.3(MCM4):c.1078G>A (p.Asp360Asn)	MCM4 (D360N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205932	NM_182746.3(MCM4):c.1112T>C (p.Ile371Thr)	MCM4 (I371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124349	NM_182746.3(MCM4):c.1295T>G (p.Leu432Arg)	MCM4 (L432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1465216	NM_182746.3(MCM4):c.1306G>A (p.Ala436Thr)	MCM4 (A436T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3124350	NM_182746.3(MCM4):c.1336G>A (p.Val446Met)	MCM4 (V446M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183273	NM_182746.3(MCM4):c.1361G>A (p.Arg454Lys)	MCM4 (R454K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1389894	NM_182746.3(MCM4):c.1378G>A (p.Glu460Lys)	MCM4 (E460K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1366570	NM_182746.3(MCM4):c.1496A>G (p.Lys499Arg)	MCM4 (K499R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1036379	NM_182746.3(MCM4):c.1598C>T (p.Thr533Met)	MCM4 (T533M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3293681	NM_182746.3(MCM4):c.1639G>A (p.Val547Ile)	MCM4 (V547I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292227	NM_182746.3(MCM4):c.1660A>G (p.Arg554Gly)	MCM4 (R554G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124351	NM_182746.3(MCM4):c.1720G>A (p.Asp574Asn)	MCM4 (D574N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1486978	NM_182746.3(MCM4):c.1754C>T (p.Ser585Leu)	MCM4 (S585L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1448701	NM_182746.3(MCM4):c.1762C>T (p.His588Tyr)	MCM4 (H588Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 910773	NM_182746.3(MCM4):c.1973A>G (p.Tyr658Cys)	MCM4 (Y658C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1395591	NM_182746.3(MCM4):c.1981C>T (p.Arg661Cys)	MCM4 (R661C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2155803	NM_182746.3(MCM4):c.2078A>G (p.Tyr693Cys)	MCM4 (Y693C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2275657	NM_182746.3(MCM4):c.2117C>T (p.Ala706Val)	MCM4 (A706V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124352	NM_182746.3(MCM4):c.2125G>A (p.Ala709Thr)	MCM4 (A709T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1405984	NM_182746.3(MCM4):c.2137G>A (p.Ala713Thr)	MCM4 (A713T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1471766	NM_182746.3(MCM4):c.2170C>T (p.Arg724Trp)	MCM4 (R724W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1394807	NM_182746.3(MCM4):c.2243G>A (p.Arg748Lys)	MCM4 (R748K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2546590	NM_182746.3(MCM4):c.2281G>A (p.Ala761Thr)	MCM4 (A761T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 911993	NM_182746.3(MCM4):c.2341G>A (p.Val781Met)	MCM4 (V781M)	Single nucleotide variant (missense variant)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency +2 more	GUncertain significance
Select item 2550232	NM_182746.3(MCM4):c.2347A>G (p.Ile783Val)	MCM4 (I783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1346479	NM_182746.3(MCM4):c.2389C>T (p.Arg797Trp)	MCM4 (R797W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1436632	NM_182746.3(MCM4):c.2447C>G (p.Pro816Arg)	MCM4 (P816R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1400448	NM_182746.3(MCM4):c.2482C>T (p.Arg828Trp)	MCM4 (R828W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1365885	NM_182746.3(MCM4):c.2533C>T (p.Arg845Cys)	MCM4 (R845C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 55