"Ambry Genetics"[submitter] AND "MCM8"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246212	NM_032485.6(MCM8):c.26G>T (p.Gly9Val)	MCM8 (G9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293699	NM_032485.6(MCM8):c.103G>A (p.Glu35Lys)	MCM8 (E35K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569675	NM_032485.6(MCM8):c.128C>G (p.Thr43Ser)	MCM8 (T43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604559	NM_032485.6(MCM8):c.169C>T (p.Leu57Phe)	MCM8 (L57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404812	NM_032485.6(MCM8):c.173C>T (p.Ser58Leu)	MCM8 (S58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372528	NM_032485.6(MCM8):c.175A>G (p.Thr59Ala)	MCM8 (T59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357804	NM_032485.6(MCM8):c.190T>G (p.Ser64Ala)	MCM8 (S64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293697	NM_032485.6(MCM8):c.262G>A (p.Asp88Asn)	MCM8 (D88N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372711	NM_032485.6(MCM8):c.319A>G (p.Ile107Val)	MCM8 (I107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124407	NM_032485.6(MCM8):c.412A>G (p.Ile138Val)	MCM8 (I138V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517039	NM_032485.6(MCM8):c.532C>G (p.Gln178Glu)	MCM8 (Q178E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124408	NM_032485.6(MCM8):c.554G>C (p.Gly185Ala)	MCM8 (G185A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278946	NM_032485.6(MCM8):c.575C>A (p.Pro192Gln)	MCM8 (P192Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291527	NM_032485.6(MCM8):c.637A>G (p.Asn213Asp)	MCM8 (N213D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530369	NM_032485.6(MCM8):c.680G>A (p.Arg227His)	MCM8 (R227H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124409	NM_032485.6(MCM8):c.682G>T (p.Val228Phe)	MCM8 (V228F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329115	NM_032485.6(MCM8):c.685A>G (p.Ser229Gly)	MCM8 (S229G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293701	NM_032485.6(MCM8):c.794C>G (p.Pro265Arg)	MCM8 (P265R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317150	NM_032485.6(MCM8):c.802G>A (p.Val268Met)	MCM8 (V268M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468940	NM_032485.6(MCM8):c.917G>A (p.Arg306Gln)	MCM8 (R306Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124410	NM_032485.6(MCM8):c.955C>T (p.Leu319Phe)	MCM8 (L319F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560000	NM_032485.6(MCM8):c.1096A>C (p.Lys366Gln)	MCM8 (K350Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531904	NM_032485.6(MCM8):c.1124A>G (p.Asp375Gly)	MCM8 (D359G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293703	NM_032485.6(MCM8):c.1268G>T (p.Gly423Val)	MCM8 (G463V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463046	NM_032485.6(MCM8):c.1319A>G (p.Asn440Ser)	MCM8 (N480S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271207	NM_032485.6(MCM8):c.1340A>C (p.Asp447Ala)	MCM8 (D447A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251019	NM_032485.6(MCM8):c.1429G>A (p.Val477Ile)	MCM8 (V461I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275382	NM_032485.6(MCM8):c.1511C>T (p.Ala504Val)	MCM8 (A488V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124397	NM_032485.6(MCM8):c.1604A>G (p.Glu535Gly)	MCM8 (E575G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293700	NM_032485.6(MCM8):c.1664C>T (p.Ser555Phe)	MCM8 (S555F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400389	NM_032485.6(MCM8):c.1669A>G (p.Ile557Val)	MCM8 (I510V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124398	NM_032485.6(MCM8):c.1687G>C (p.Val563Leu)	MCM8 (V516L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226323	NM_032485.6(MCM8):c.1738G>A (p.Gly580Arg)	MCM8 (G533R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124399	NM_032485.6(MCM8):c.1742G>A (p.Ser581Asn)	MCM8 (S534N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368490	NM_032485.6(MCM8):c.1772T>C (p.Phe591Ser)	MCM8 (F544S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259399	NM_032485.6(MCM8):c.1870A>G (p.Thr624Ala)	MCM8 (T624A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456812	NM_032485.6(MCM8):c.1890T>A (p.Ser630Arg)	MCM8 (S583R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124400	NM_032485.6(MCM8):c.1940C>T (p.Ser647Leu)	MCM8 (S687L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124402	NM_032485.6(MCM8):c.1955T>G (p.Val652Gly)	MCM8 (V636G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388962	NM_032485.6(MCM8):c.2020C>T (p.Arg674Trp)	MCM8 (R714W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124403	NM_032485.6(MCM8):c.2030T>C (p.Val677Ala)	MCM8 (V677A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339685	NM_032485.6(MCM8):c.2050G>C (p.Glu684Gln)	MCM8 (E684Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466779	NM_032485.6(MCM8):c.2059C>G (p.Arg687Gly)	MCM8 (R727G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293705	NM_032485.6(MCM8):c.2078A>G (p.Tyr693Cys)	MCM8 (Y677C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280590	NM_032485.6(MCM8):c.2122A>G (p.Ile708Val)	MCM8 (I708V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354302	NM_032485.6(MCM8):c.2203G>C (p.Glu735Gln)	MCM8 (E719Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481788	NM_032485.6(MCM8):c.2258C>G (p.Ser753Cys)	MCM8, MCM8-AS1 (S737C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124404	NM_032485.6(MCM8):c.2317A>G (p.Arg773Gly)	MCM8, MCM8-AS1 (R757G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601930	NM_032485.6(MCM8):c.2333G>C (p.Arg778Thr)	MCM8, MCM8-AS1 (R778T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204693	NM_032485.6(MCM8):c.2374A>G (p.Asn792Asp)	MCM8, MCM8-AS1 (N745D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293704	NM_032485.6(MCM8):c.2423A>G (p.Asn808Ser)	MCM8, MCM8-AS1 (N761S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124405	NM_032485.6(MCM8):c.2429A>G (p.Gln810Arg)	MCM8, MCM8-AS1 (Q850R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293698	NM_032485.6(MCM8):c.2435C>A (p.Ala812Asp)	MCM8, MCM8-AS1 (A765D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330888	NM_032485.6(MCM8):c.2453T>C (p.Ile818Thr)	MCM8, MCM8-AS1 (I771T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124406	NM_032485.6(MCM8):c.2486A>G (p.Lys829Arg)	MCM8, MCM8-AS1 (K782R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 55