"Ambry Genetics"[submitter] AND "COMMD8"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2598739	NM_017845.5(COMMD8):c.472A>G (p.Ile158Val)	COMMD8 (I158V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398668	NM_017845.5(COMMD8):c.431A>G (p.His144Arg)	COMMD8 (H144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381877	NM_017845.5(COMMD8):c.410G>A (p.Arg137Gln)	COMMD8 (R135Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559990	NM_017845.5(COMMD8):c.364T>G (p.Trp122Gly)	COMMD8 (W122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361335	NM_017845.5(COMMD8):c.287G>T (p.Ser96Ile)	COMMD8 (S96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209994	NM_017845.5(COMMD8):c.178A>G (p.Lys60Glu)	COMMD8 (K60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268928	NM_017845.5(COMMD8):c.103G>A (p.Ala35Thr)	COMMD8 (A35T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147921	NM_017845.5(COMMD8):c.47C>A (p.Pro16Gln)	COMMD8, LOC129992546 (P16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147920	NM_017845.5(COMMD8):c.23C>T (p.Pro8Leu)	COMMD8, LOC129992546 (P8L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268929	NM_017845.5(COMMD8):c.16G>A (p.Gly6Arg)	COMMD8, LOC129992546 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147923	NM_017845.5(COMMD8):c.7C>T (p.Pro3Ser)	COMMD8, LOC129992546 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147922	NM_017845.5(COMMD8):c.7C>G (p.Pro3Ala)	COMMD8, LOC129992546 (P3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance