Related gene-specific medical variations for Gene (Select 84515) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
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 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 3038586	NM_032485.6(MCM8):c.2291C>T (p.Ser764Phe)	MCM8, MCM8-AS1 (S717F +3 more)	Single nucleotide variant (missense variant)	MCM8-related disorder	GLikely benign
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 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 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 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 1328959	NM_032485.6(MCM8):c.482A>C (p.His161Pro)	MCM8 (H161P)	Single nucleotide variant (missense variant)	Azoospermia	GPathogenic
Select item 1307030	NM_032485.6(MCM8):c.2470C>T (p.Gln824Ter)	MCM8, MCM8-AS1 (Q777* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance