ITPKC[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3111730	NM_025194.3(ITPKC):c.73G>A (p.Gly25Arg)	ITPKC, LOC130064485 (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045866	NM_025194.3(ITPKC):c.129G>T (p.Gly43=)	ITPKC, LOC130064485	Single nucleotide variant (synonymous variant)	ITPKC-related disorder	GLikely benign
Select item 2308097	NM_025194.3(ITPKC):c.142G>T (p.Ala48Ser)	ITPKC, LOC130064485 (A48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286977	NM_025194.3(ITPKC):c.152G>A (p.Gly51Glu)	ITPKC, LOC130064485 (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336216	NM_025194.3(ITPKC):c.161A>C (p.Glu54Ala)	ITPKC, LOC130064485 (E54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309602	NM_025194.3(ITPKC):c.241G>T (p.Gly81Trp)	ITPKC (G81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385248	NM_025194.3(ITPKC):c.276C>G (p.Asp92Glu)	ITPKC (D92E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111723	NM_025194.3(ITPKC):c.351G>C (p.Arg117Ser)	ITPKC (R117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111724	NM_025194.3(ITPKC):c.359T>G (p.Leu120Arg)	ITPKC (L120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037831	NM_025194.3(ITPKC):c.427G>A (p.Asp143Asn)	ITPKC (D143N)	Single nucleotide variant (missense variant)	ITPKC-related disorder	GLikely benign
Select item 2248580	NM_025194.3(ITPKC):c.446C>A (p.Pro149Gln)	ITPKC (P149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461472	NM_025194.3(ITPKC):c.457G>A (p.Asp153Asn)	ITPKC (D153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111725	NM_025194.3(ITPKC):c.509A>G (p.His170Arg)	ITPKC (H170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636615	NM_025194.3(ITPKC):c.512_513del (p.Gly171fs)	ITPKC (G171fs)	Deletion (frameshift variant)	ITPKC-related disorder	GUncertain significance
Select item 2516283	NM_025194.3(ITPKC):c.515C>T (p.Pro172Leu)	ITPKC (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351618	NM_025194.3(ITPKC):c.536A>G (p.His179Arg)	ITPKC (H179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231456	NM_025194.3(ITPKC):c.553C>T (p.Pro185Ser)	ITPKC (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111726	NM_025194.3(ITPKC):c.605C>T (p.Ser202Phe)	ITPKC (S202F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286981	NM_025194.3(ITPKC):c.632C>A (p.Ala211Asp)	ITPKC (A211D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111727	NM_025194.3(ITPKC):c.694A>G (p.Arg232Gly)	ITPKC (R232G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111728	NM_025194.3(ITPKC):c.729G>T (p.Glu243Asp)	ITPKC (E243D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111729	NM_025194.3(ITPKC):c.737C>G (p.Thr246Ser)	ITPKC (T246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278164	NM_025194.3(ITPKC):c.755A>C (p.Lys252Thr)	ITPKC (K252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518990	NM_025194.3(ITPKC):c.757C>A (p.Gln253Lys)	ITPKC (Q253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294801	NM_025194.3(ITPKC):c.758A>G (p.Gln253Arg)	ITPKC (Q253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529652	NM_025194.3(ITPKC):c.793G>A (p.Gly265Ser)	ITPKC (G265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286980	NM_025194.3(ITPKC):c.794G>A (p.Gly265Asp)	ITPKC (G265D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3061613	NM_025194.3(ITPKC):c.796G>A (p.Gly266Ser)	ITPKC (G266S)	Single nucleotide variant (missense variant)	ITPKC-related disorder	GLikely benign
Select item 3111731	NM_025194.3(ITPKC):c.869G>A (p.Gly290Glu)	ITPKC (G290E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111732	NM_025194.3(ITPKC):c.871A>G (p.Thr291Ala)	ITPKC (T291A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376475	NM_025194.3(ITPKC):c.899A>T (p.Asp300Val)	ITPKC (D300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050711	NM_025194.3(ITPKC):c.921G>A (p.Glu307=)	ITPKC	Single nucleotide variant (synonymous variant)	ITPKC-related disorder	GLikely benign
Select item 2528693	NM_025194.3(ITPKC):c.946T>A (p.Tyr316Asn)	ITPKC (Y316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225226	NM_025194.3(ITPKC):c.1018G>C (p.Glu340Gln)	ITPKC (E340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350756	NM_025194.3(ITPKC):c.1048G>A (p.Val350Ile)	ITPKC (V350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493573	NM_025194.3(ITPKC):c.1057G>A (p.Gly353Ser)	ITPKC (G353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558842	NM_025194.3(ITPKC):c.1088T>G (p.Phe363Cys)	ITPKC (F363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054086	NM_025194.3(ITPKC):c.1116C>T (p.Ala372=)	ITPKC	Single nucleotide variant (synonymous variant)	ITPKC-related disorder	GLikely benign
Select item 3286974	NM_025194.3(ITPKC):c.1117G>A (p.Gly373Arg)	ITPKC (G373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286290	NM_025194.3(ITPKC):c.1127G>A (p.Gly376Asp)	ITPKC (G376D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4277	NM_025194.3(ITPKC):c.1155+9G>C	ITPKC	Single nucleotide variant (intron variant)	ITPKC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3111711	NM_025194.3(ITPKC):c.1181C>G (p.Thr394Arg)	ITPKC (T394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271393	NM_025194.3(ITPKC):c.1211C>T (p.Ser404Phe)	ITPKC (S404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513588	NM_025194.3(ITPKC):c.1223A>G (p.His408Arg)	ITPKC (H408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260303	NM_025194.3(ITPKC):c.1271G>A (p.Gly424Glu)	ITPKC (G424E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210664	NM_025194.3(ITPKC):c.1276G>C (p.Asp426His)	ITPKC (D426H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401415	NM_025194.3(ITPKC):c.1283G>A (p.Arg428Gln)	ITPKC (R428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224386	NM_025194.3(ITPKC):c.1301G>C (p.Cys434Ser)	ITPKC (C434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490076	NM_025194.3(ITPKC):c.1328A>G (p.Gln443Arg)	ITPKC (Q443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532652	NM_025194.3(ITPKC):c.1369T>C (p.Tyr457His)	ITPKC (Y457H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111713	NM_025194.3(ITPKC):c.1436G>C (p.Gly479Ala)	ITPKC (G479A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052360	NM_025194.3(ITPKC):c.1470-9T>C	ITPKC	Single nucleotide variant (intron variant)	ITPKC-related disorder	GLikely benign
Select item 2284822	NM_025194.3(ITPKC):c.1513C>T (p.Arg505Cys)	ITPKC (R505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050065	NM_025194.3(ITPKC):c.1516C>T (p.Pro506Ser)	ITPKC (P506S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2266241	NM_025194.3(ITPKC):c.1529T>C (p.Met510Thr)	ITPKC (M510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286978	NM_025194.3(ITPKC):c.1547C>T (p.Ala516Val)	ITPKC (A516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111714	NM_025194.3(ITPKC):c.1579C>T (p.His527Tyr)	ITPKC (H527Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111715	NM_025194.3(ITPKC):c.1630A>G (p.Met544Val)	ITPKC (M544V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349033	NM_025194.3(ITPKC):c.1646C>T (p.Thr549Ile)	ITPKC (T549I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111716	NM_025194.3(ITPKC):c.1700A>G (p.Asn567Ser)	ITPKC (N567S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111717	NM_025194.3(ITPKC):c.1725G>T (p.Glu575Asp)	ITPKC (E575D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111718	NM_025194.3(ITPKC):c.1747G>A (p.Asp583Asn)	ITPKC (D583N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286976	NM_025194.3(ITPKC):c.1802A>G (p.Glu601Gly)	ITPKC (E601G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036547	NM_025194.3(ITPKC):c.1849-6C>T	ITPKC	Single nucleotide variant (intron variant)	ITPKC-related disorder	GLikely benign
Select item 2375755	NM_025194.3(ITPKC):c.1873G>A (p.Val625Met)	ITPKC (V601M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111719	NM_025194.3(ITPKC):c.1900G>A (p.Val634Ile)	ITPKC (V610I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111720	NM_025194.3(ITPKC):c.1918G>A (p.Gly640Ser)	ITPKC (G616S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111721	NM_025194.3(ITPKC):c.1942C>G (p.His648Asp)	ITPKC (H624D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111722	NM_025194.3(ITPKC):c.1955G>A (p.Ser652Asn)	ITPKC (S652N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286979	NM_025194.3(ITPKC):c.1985G>A (p.Arg662His)	ITPKC (R662H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050072	NM_025194.3(ITPKC):c.*4G>T	ITPKC	Single nucleotide variant (3 prime UTR variant)	ITPKC-related disorder	GLikely benign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 689066	GRCh37/hg19 19q13.2(chr19:41191376-41239029)x3	COQ8B, ITPKC +1 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 81