"Ambry Genetics"[submitter] AND "ITPKA"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388829	NM_002220.3(ITPKA):c.29T>G (p.Met10Arg)	ITPKA (M10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542948	NM_002220.3(ITPKA):c.44G>A (p.Gly15Asp)	ITPKA (G15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526914	NM_002220.3(ITPKA):c.86G>C (p.Arg29Pro)	ITPKA (R29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271201	NM_002220.3(ITPKA):c.94G>C (p.Gly32Arg)	ITPKA (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549667	NM_002220.3(ITPKA):c.181C>T (p.Arg61Trp)	ITPKA (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242431	NM_002220.3(ITPKA):c.181C>G (p.Arg61Gly)	ITPKA (R61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403491	NM_002220.3(ITPKA):c.214C>T (p.Arg72Trp)	ITPKA (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407840	NM_002220.3(ITPKA):c.356G>T (p.Arg119Leu)	ITPKA, LOC130056896 (R119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520336	NM_002220.3(ITPKA):c.380C>A (p.Ser127Tyr)	ITPKA, LOC130056896 (S127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286966	NM_002220.3(ITPKA):c.445A>G (p.Ser149Gly)	ITPKA (S149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531201	NM_002220.3(ITPKA):c.449G>A (p.Arg150His)	ITPKA (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111694	NM_002220.3(ITPKA):c.464T>G (p.Leu155Arg)	ITPKA (L155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224460	NM_002220.3(ITPKA):c.470C>A (p.Ala157Glu)	ITPKA (A157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249710	NM_002220.3(ITPKA):c.507G>C (p.Lys169Asn)	ITPKA (K169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460925	NM_002220.3(ITPKA):c.557A>G (p.Tyr186Cys)	ITPKA (Y186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111696	NM_002220.3(ITPKA):c.613G>C (p.Gly205Arg)	ITPKA (G205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545132	NM_002220.3(ITPKA):c.862A>T (p.Met288Leu)	ITPKA (M288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286967	NM_002220.3(ITPKA):c.926C>A (p.Ala309Asp)	ITPKA (A309D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306453	NM_002220.3(ITPKA):c.928G>A (p.Val310Ile)	ITPKA (V310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111691	NM_002220.3(ITPKA):c.1025G>A (p.Cys342Tyr)	ITPKA (C342Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111692	NM_002220.3(ITPKA):c.1027A>T (p.Ser343Cys)	ITPKA (S343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111693	NM_002220.3(ITPKA):c.1115G>C (p.Arg372Pro)	ITPKA (R372P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476016	NM_002220.3(ITPKA):c.1180G>A (p.Glu394Lys)	ITPKA (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474320	NM_002220.3(ITPKA):c.1229C>G (p.Ala410Gly)	ITPKA (A410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316244	NM_002220.3(ITPKA):c.1345G>T (p.Asp449Tyr)	ITPKA (D449Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260614	NM_002220.3(ITPKA):c.1354A>C (p.Ile452Leu)	ITPKA (I452L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556752	NM_002220.3(ITPKA):c.1372C>A (p.Leu458Met)	ITPKA (L458M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27