DIPK1C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 58784	GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	ADNP2, ATP9B +348 more	Copy number gain	See cases	GPathogenic
Select item 146574	GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	ADNP2, ATP9B +347 more	Copy number loss	See cases	GPathogenic
Select item 150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	LOC112543433, LOC116276492 +320 more	Copy number loss	See cases	GPathogenic
Select item 60004	GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	ADNP2, ATP9B +308 more	Copy number loss	See cases	GPathogenic
Select item 149742	GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	LOC130062769, LOC130062770 +302 more	Copy number loss	See cases	GPathogenic
Select item 57306	GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1	ADNP2, ATP9B +302 more	Copy number loss	See cases	GPathogenic
Select item 148524	GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	LOC132090901, LOC132211114 +300 more	Copy number loss	See cases	GPathogenic
Select item 147763	GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	LOC126862830, LOC126862831 +299 more	Copy number loss	See cases	GPathogenic
Select item 148742	GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 154000	GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 149650	GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	ADNP2, ATP9B +296 more	Copy number loss	See cases	GPathogenic
Select item 154622	GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	ADNP2, ATP9B +292 more	Copy number gain	See cases	GPathogenic
Select item 147355	GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1	ADNP2, ATP9B +291 more	Copy number loss	See cases	GPathogenic
Select item 152338	GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	ADNP2, ATP9B +288 more	Copy number loss	See cases	GPathogenic
Select item 146891	GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	LOC130062763, LOC130062764 +288 more	Copy number loss	See cases	GPathogenic
Select item 148304	GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	ADNP2, ATP9B +287 more	Copy number loss	See cases	GPathogenic
Select item 148357	GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	ADNP2, ATP9B +282 more	Copy number loss	See cases	GPathogenic
Select item 155490	GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	LOC130062726, LOC130062727 +282 more	Copy number loss	See cases	GPathogenic
Select item 144342	GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	ADNP2, ATP9B +279 more	Copy number loss	See cases	GPathogenic
Select item 60033	GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	ADNP2, ATP9B +279 more	Copy number loss	See cases	GPathogenic
Select item 1684631	Single allele	LINC01893, LOC126862798 +279 more	Deletion	Pulmonary valve stenosis +10 more	GPathogenic
Select item 149195	GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	LOC132090511, LOC132090512 +278 more	Copy number loss	See cases	GPathogenic
Select item 146547	GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	ADNP2, ATP9B +248 more	Copy number loss	See cases	GPathogenic
Select item 150633	GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3	ADNP2, ATP9B +241 more	Copy number gain	See cases	GPathogenic
Select item 149476	GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 146226	GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 155129	GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	LOC130062739, LOC130062740 +238 more	Copy number loss	See cases	GPathogenic
Select item 149757	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1	ADNP2, ATP9B +230 more	Copy number loss	See cases	GPathogenic
Select item 149756	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3	LOC126862797, LOC126862798 +230 more	Copy number gain	See cases	GPathogenic
Select item 60034	GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	ATP9B, C18orf63 +149 more	Copy number loss	See cases	GPathogenic
Select item 146881	GRCh38/hg38 18q22.3(chr18:74416892-74651188)x3	CNDP1, CNDP2 +14 more	Copy number gain	See cases	GLikely benign
Select item 3082518	NM_001044369.3(DIPK1C):c.1240C>G (p.Leu414Val)	DIPK1C (L414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612698	NM_001044369.3(DIPK1C):c.1219C>A (p.Leu407Ile)	DIPK1C (L407I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082517	NM_001044369.3(DIPK1C):c.1177C>T (p.Arg393Trp)	DIPK1C (R393W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082516	NM_001044369.3(DIPK1C):c.1133C>T (p.Ala378Val)	DIPK1C (A378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517794	NM_001044369.3(DIPK1C):c.1063C>T (p.Arg355Cys)	DIPK1C (R355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082515	NM_001044369.3(DIPK1C):c.1029C>G (p.Asn343Lys)	DIPK1C (N343K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082514	NM_001044369.3(DIPK1C):c.1022G>A (p.Arg341His)	DIPK1C (R341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468781	NM_001044369.3(DIPK1C):c.998G>A (p.Arg333Gln)	DIPK1C (R333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272124	NM_001044369.3(DIPK1C):c.936G>T (p.Glu312Asp)	DIPK1C (E312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519789	NM_001044369.3(DIPK1C):c.928A>C (p.Ile310Leu)	DIPK1C (I310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532698	NM_001044369.3(DIPK1C):c.923G>A (p.Arg308Lys)	DIPK1C (R308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493455	NM_001044369.3(DIPK1C):c.901G>A (p.Ala301Thr)	DIPK1C (A301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082537	NM_001044369.3(DIPK1C):c.893T>A (p.Val298Glu)	DIPK1C (V298E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272122	NM_001044369.3(DIPK1C):c.863G>A (p.Arg288Gln)	DIPK1C (R288Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082535	NM_001044369.3(DIPK1C):c.845C>G (p.Pro282Arg)	DIPK1C (P282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082534	NM_001044369.3(DIPK1C):c.820C>T (p.Arg274Cys)	DIPK1C (R274C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082533	NM_001044369.3(DIPK1C):c.788T>C (p.Met263Thr)	DIPK1C (M263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462192	NM_001044369.3(DIPK1C):c.776G>C (p.Ser259Thr)	DIPK1C (S259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082532	NM_001044369.3(DIPK1C):c.772C>G (p.Leu258Val)	DIPK1C (L258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082531	NM_001044369.3(DIPK1C):c.718C>T (p.Arg240Trp)	DIPK1C (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589420	NM_001044369.3(DIPK1C):c.698G>A (p.Arg233Lys)	DIPK1C (R233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082528	NM_001044369.3(DIPK1C):c.646T>C (p.Cys216Arg)	DIPK1C (C216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511178	NM_001044369.3(DIPK1C):c.625G>T (p.Val209Leu)	DIPK1C (V209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551656	NM_001044369.3(DIPK1C):c.610G>C (p.Asp204His)	DIPK1C (D204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547541	NM_001044369.3(DIPK1C):c.545G>T (p.Gly182Val)	DIPK1C (G182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272126	NM_001044369.3(DIPK1C):c.541C>T (p.Arg181Trp)	DIPK1C (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082527	NM_001044369.3(DIPK1C):c.532C>A (p.Pro178Thr)	DIPK1C (P178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082526	NM_001044369.3(DIPK1C):c.526C>T (p.Arg176Trp)	DIPK1C (R176W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272125	NM_001044369.3(DIPK1C):c.506G>A (p.Gly169Glu)	DIPK1C (G169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082525	NM_001044369.3(DIPK1C):c.472G>T (p.Ala158Ser)	DIPK1C (A158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589340	NM_001044369.3(DIPK1C):c.472G>A (p.Ala158Thr)	DIPK1C (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623311	NM_001044369.3(DIPK1C):c.449T>C (p.Met150Thr)	DIPK1C (M150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457699	NM_001044369.3(DIPK1C):c.448A>T (p.Met150Leu)	DIPK1C (M150L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082523	NM_001044369.3(DIPK1C):c.437A>G (p.Glu146Gly)	DIPK1C (E146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531300	NM_001044369.3(DIPK1C):c.355G>A (p.Glu119Lys)	DIPK1C (E119K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082522	NM_001044369.3(DIPK1C):c.308T>A (p.Val103Glu)	DIPK1C (V103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082520	NM_001044369.3(DIPK1C):c.256G>C (p.Ala86Pro)	DIPK1C (A86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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