"Ambry Genetics"[submitter] AND "KIAA0930"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2238002	NM_001009880.2(KIAA0930):c.1067G>A (p.Gly356Glu)	KIAA0930 (G356E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691076	NM_001009880.2(KIAA0930):c.971C>T (p.Ser324Leu)	KIAA0930 (S324L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 2409007	NM_001009880.2(KIAA0930):c.943C>T (p.Arg315Trp)	KIAA0930 (R320W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253757	NM_001009880.2(KIAA0930):c.938G>A (p.Arg313Gln)	KIAA0930 (R313Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400392	NM_001009880.2(KIAA0930):c.929A>G (p.Lys310Arg)	KIAA0930 (K310R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255522	NM_001009880.2(KIAA0930):c.899C>G (p.Pro300Arg)	KIAA0930 (P300R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535419	NM_001009880.2(KIAA0930):c.670G>A (p.Ala224Thr)	KIAA0930 (A229T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455149	NM_001009880.2(KIAA0930):c.295G>A (p.Asp99Asn)	KIAA0930 (D99N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617177	NM_001009880.2(KIAA0930):c.199G>A (p.Gly67Ser)	KIAA0930 (G72S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2508284	NM_001009880.2(KIAA0930):c.82C>T (p.Arg28Cys)	KIAA0930 (R33C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance