"Ambry Genetics"[submitter] AND "ORC6"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 319300	NM_014321.4(ORC6):c.23G>T (p.Arg8Leu)	ORC6 (R8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1438470	NM_014321.4(ORC6):c.92C>T (p.Ser31Phe)	ORC6 (S31F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2376809	NM_014321.4(ORC6):c.124A>T (p.Thr42Ser)	ORC6 (T42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3303509	NM_014321.4(ORC6):c.140G>A (p.Ser47Asn)	ORC6 (S47N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 129865	NM_014321.4(ORC6):c.207T>G (p.Ile69Met)	ORC6 (I69M)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +2 more	GUncertain significance
Select item 436123	NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn)	ORC6 (Y79N)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 3206971	NM_014321.4(ORC6):c.286A>G (p.Ile96Val)	ORC6 (I96V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1502914	NM_014321.4(ORC6):c.313T>C (p.Phe105Leu)	ORC6 (F105L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3206972	NM_014321.4(ORC6):c.323T>C (p.Ile108Thr)	ORC6 (I108T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2285580	NM_014321.4(ORC6):c.409A>G (p.Arg137Gly)	ORC6 (R137G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251586	NM_014321.4(ORC6):c.496G>A (p.Gly166Ser)	ORC6 (G166S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2066811	NM_014321.4(ORC6):c.499G>A (p.Val167Ile)	ORC6 (V167I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619055	NM_014321.4(ORC6):c.536T>C (p.Leu179Pro)	ORC6 (L179P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 319304	NM_014321.4(ORC6):c.556G>T (p.Val186Phe)	ORC6 (V186F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3303508	NM_014321.4(ORC6):c.643G>T (p.Val215Leu)	ORC6 (V215L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3303510	NM_014321.4(ORC6):c.749C>T (p.Thr250Ile)	ORC6 (T250I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance