KIAA0930[gene] and "single gene"[properties] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114133	NM_001009880.2(KIAA0930):c.1144G>A (p.Val382Ile)	KIAA0930 (V382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288116	NM_001009880.2(KIAA0930):c.1096C>A (p.Leu366Met)	KIAA0930 (L366M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238002	NM_001009880.2(KIAA0930):c.1067G>A (p.Gly356Glu)	KIAA0930 (G356E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288114	NM_001009880.2(KIAA0930):c.989A>T (p.Glu330Val)	KIAA0930 (E330V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691077	NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr)	KIAA0930 (A325T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
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 1691075	NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu)	KIAA0930 (S322L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2409007	NM_001009880.2(KIAA0930):c.943C>T (p.Arg315Trp)	KIAA0930 (R320W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253757	NM_001009880.2(KIAA0930):c.938G>A (p.Arg313Gln)	KIAA0930 (R313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400392	NM_001009880.2(KIAA0930):c.929A>G (p.Lys310Arg)	KIAA0930 (K310R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255522	NM_001009880.2(KIAA0930):c.899C>G (p.Pro300Arg)	KIAA0930 (P300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114142	NM_001009880.2(KIAA0930):c.838C>T (p.Pro280Ser)	KIAA0930 (P285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288115	NM_001009880.2(KIAA0930):c.836C>T (p.Ser279Leu)	KIAA0930 (S279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288111	NM_001009880.2(KIAA0930):c.718A>G (p.Met240Val)	KIAA0930 (M240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114141	NM_001009880.2(KIAA0930):c.690G>A (p.Met230Ile)	KIAA0930 (M230I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535419	NM_001009880.2(KIAA0930):c.670G>A (p.Ala224Thr)	KIAA0930 (A229T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114139	NM_001009880.2(KIAA0930):c.575G>A (p.Ser192Asn)	KIAA0930 (S192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288112	NM_001009880.2(KIAA0930):c.413A>C (p.Gln138Pro)	KIAA0930 (Q138P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288113	NM_001009880.2(KIAA0930):c.353C>G (p.Thr118Ser)	KIAA0930 (T118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455149	NM_001009880.2(KIAA0930):c.295G>A (p.Asp99Asn)	KIAA0930 (D99N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114136	NM_001009880.2(KIAA0930):c.292A>G (p.Ile98Val)	KIAA0930 (I103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114135	NM_001009880.2(KIAA0930):c.254G>A (p.Arg85Gln)	KIAA0930 (R85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617177	NM_001009880.2(KIAA0930):c.199G>A (p.Gly67Ser)	KIAA0930 (G72S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3234137	NM_001009880.2(KIAA0930):c.198C>T (p.Ser66=)	KIAA0930	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114134	NM_001009880.2(KIAA0930):c.169C>T (p.Arg57Trp)	KIAA0930 (R62W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508284	NM_001009880.2(KIAA0930):c.82C>T (p.Arg28Cys)	KIAA0930 (R33C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114140	NM_001009880.2(KIAA0930):c.65-175T>C	KIAA0930 (L21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114138	NM_001009880.2(KIAA0930):c.65-184C>T	KIAA0930 (S18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114137	NM_001009880.2(KIAA0930):c.65-196C>T	KIAA0930 (S14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653282	NM_001009880.2(KIAA0930):c.65-227C>T	KIAA0930 (Q4*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign

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Items: 30