ClinVar for Gene (Select 125704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148889	GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3	ADNP2, ATP9B +34 more	Copy number gain	not provided	GPathogenic
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 3082536	NM_001044369.3(DIPK1C):c.88G>A (p.Ala30Thr)	DIPK1C (A30T)	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 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 3082528	NM_001044369.3(DIPK1C):c.646T>C (p.Cys216Arg)	DIPK1C (C216R)	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 3082525	NM_001044369.3(DIPK1C):c.472G>T (p.Ala158Ser)	DIPK1C (A158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3082522	NM_001044369.3(DIPK1C):c.308T>A (p.Val103Glu)	DIPK1C (V103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082521	NM_001044369.3(DIPK1C):c.29C>G (p.Pro10Arg)	DIPK1C (P10R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082520	NM_001044369.3(DIPK1C):c.256G>C (p.Ala86Pro)	DIPK1C (A86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082519	NM_001044369.3(DIPK1C):c.203A>G (p.Gln68Arg)	DIPK1C (Q68R)	Single nucleotide variant (missense variant)	not specified	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 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 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 3063550	GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1	ADNP2, ATP9B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063547	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not specified	GPathogenic
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2685626	GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2648805	NM_001044369.3(DIPK1C):c.117C>A (p.Ala39=)	DIPK1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2612698	NM_001044369.3(DIPK1C):c.1219C>A (p.Leu407Ile)	DIPK1C (L407I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591881	NM_001044369.3(DIPK1C):c.83T>G (p.Phe28Cys)	DIPK1C (F28C)	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 2589340	NM_001044369.3(DIPK1C):c.472G>A (p.Ala158Thr)	DIPK1C (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ADNP2, ATP9B +37 more	Copy number loss	not provided	GPathogenic
Select item 2574698	GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)	ADNP2, ATP9B +34 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2571020	GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2570213	NM_001044369.3(DIPK1C):c.221C>T (p.Thr74Met)	DIPK1C (T74M)	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 2532698	NM_001044369.3(DIPK1C):c.923G>A (p.Arg308Lys)	DIPK1C (R308K)	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 2529599	NM_001044369.3(DIPK1C):c.8G>C (p.Arg3Pro)	DIPK1C (R3P)	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 2517794	NM_001044369.3(DIPK1C):c.1063C>T (p.Arg355Cys)	DIPK1C (R355C)	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 2500799	GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	CYB5A, PARD6G +33 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
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 2468781	NM_001044369.3(DIPK1C):c.998G>A (p.Arg333Gln)	DIPK1C (R333Q)	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 2459694	NM_001044369.3(DIPK1C):c.154G>C (p.Glu52Gln)	DIPK1C (E52Q)	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 1809327	GRCh37/hg19 18q22.3(chr18:72099509-72677275)x3	CNDP1, CNDP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809192	GRCh37/hg19 18q22.3(chr18:68799420-72639955)x3	C18orf63, CBLN2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1808471	GRCh37/hg19 18q22.3(chr18:70908956-72391740)x3	C18orf63, CNDP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807794	GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	not provided	GPathogenic
Select item 1807707	GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1	ADNP2, ATP9B +41 more	Copy number loss	not provided	GPathogenic
Select item 1703624	GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	ADNP2, ATP9B +45 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1703234	Single allele	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1684631	Single allele	LINC01893, LOC126862798 +279 more	Deletion	Pulmonary valve stenosis +10 more	GPathogenic
Select item 1526643	GRCh37/hg19 18q22.3-23(chr18:70333866-78014123)	LINC01879, MBP +27 more	Copy number loss	not specified	GPathogenic
Select item 1526642	GRCh37/hg19 18q22.3(chr18:70320462-72387913)	CNDP1, CNDP2 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526633	GRCh37/hg19 18q22.1-23(chr18:64340599-77273893)	PTGR3, RTTN +27 more	Copy number loss	not specified	GPathogenic
Select item 1526630	GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	FBXO15, SLC66A2 +57 more	Copy number loss	not specified	GPathogenic
Select item 1526628	GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	PHLPP1, PIGN +58 more	Copy number loss	not specified	GPathogenic
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340811	GRCh37/hg19 18q22.3(chr18:71087678-72655732)x3	C18orf63, CNDP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340168	GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1	C18orf63, CBLN2 +17 more	Copy number loss	not provided	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	ATP9B, BCL2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	LINC01415, LINC01879 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980187	GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1	PARD6G, PTGR3 +26 more	Copy number loss	not provided	GPathogenic
Select item 980186	GRCh37/hg19 18q22.3(chr18:72099441-72677275)x3	DIPK1C, CNDP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980184	GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3	PTGR3, SOCS6 +36 more	Copy number gain	not provided	GLikely pathogenic
Select item 816057	GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1	FBXO15, LINC01879 +27 more	Copy number loss	not provided	GPathogenic
Select item 816056	GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1	HSBP1L1, TXNL4A +27 more	Copy number loss	not provided	GPathogenic
Select item 816055	GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1	PTGR3, DIPK1C +31 more	Copy number loss	not provided	GPathogenic
Select item 816054	GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1	MBP, NETO1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816053	GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1	TXNL4A, CYB5A +53 more	Copy number loss	not provided	GPathogenic
Select item 816052	GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	ZNF236, CYB5A +66 more	Copy number loss	not provided	GPathogenic
Select item 816051	GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	PHLPP1, MC4R +72 more	Copy number loss	not provided	GPathogenic
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 816044	GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1	ZNF516, DIPK1C +21 more	Copy number loss	not provided	GPathogenic
Select item 816043	GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1	SMIM21, PTGR3 +16 more	Copy number loss	not provided	GPathogenic
Select item 816038	GRCh37/hg19 18q22.3(chr18:72051173-72260569)x3	CNDP1, CNDP2 +1 more	Copy number gain	not provided	GLikely benign
Select item 689027	GRCh37/hg19 18q22.3(chr18:72086248-72113340)x1	DIPK1C	Copy number loss	not provided	GUncertain significance
Select item 688621	GRCh37/hg19 18q22.3(chr18:69163716-72387913)x3	C18orf63, CBLN2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 687330	GRCh37/hg19 18q22.3(chr18:72103781-72174372)x1	CNDP2, DIPK1C	Copy number loss	not provided	GUncertain significance
Select item 687319	GRCh37/hg19 18q22.3(chr18:72103781-72174372)x1	CNDP2, DIPK1C	Copy number loss	not provided	GUncertain significance
Select item 686550	GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not provided	GPathogenic
Select item 686547	GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not provided	GPathogenic
Select item 684893	GRCh37/hg19 18q22.3(chr18:72049000-72266278)x3	DIPK1C, CNDP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635891	Single allele	ADNP2, ATP9B +37 more	Deletion	Neurodevelopmental disorder	GPathogenic

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