ClinVar for Gene (Select 147381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263650	NM_182511.4(CBLN2):c.497G>C (p.Gly166Ala)	CBLN2 (G166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263649	NM_182511.4(CBLN2):c.215C>G (p.Pro72Arg)	CBLN2 (P72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148889	GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3	ADNP2, ATP9B +34 more	Copy number gain	not provided	GPathogenic
Select item 3138015	NM_182511.4(CBLN2):c.407T>C (p.Val136Ala)	CBLN2 (V136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063556	GRCh37/hg19 18q22.3(chr18:69888150-72001217)x1	C18orf63, CBLN2 +4 more	Copy number loss	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 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	ZNF236, ADNP2 +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 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 2393842	NM_182511.4(CBLN2):c.110C>T (p.Ala37Val)	CBLN2 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331172	NM_182511.4(CBLN2):c.424A>G (p.Ile142Val)	CBLN2 (I142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293296	NM_182511.4(CBLN2):c.205G>A (p.Asp69Asn)	CBLN2 (D69N)	Single nucleotide variant (missense variant)	not specified	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 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	LOC126862831, LOC130062709 +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 1526641	GRCh37/hg19 18q22.2-22.3(chr18:67770444-70633671)	CBLN2, NETO1 +2 more	Copy number loss	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 1340168	GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1	C18orf63, CBLN2 +17 more	Copy number loss	not provided	GPathogenic
Select item 1316642	NM_182511.4(CBLN2):c.-166-135C>A	CBLN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284185	NM_182511.4(CBLN2):c.*10C>T	CBLN2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1282546	NM_182511.4(CBLN2):c.-115C>G	CBLN2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277122	NM_182511.4(CBLN2):c.357+141C>A	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268943	NM_182511.4(CBLN2):c.-166-331C>T	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261360	NM_182511.4(CBLN2):c.-166-188G>T	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250060	NM_182511.4(CBLN2):c.75G>T (p.Pro25=)	CBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1247859	NM_182511.4(CBLN2):c.-85A>G	CBLN2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1233144	NM_182511.4(CBLN2):c.219G>A (p.Ser73=)	CBLN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1179251	NM_182511.4(CBLN2):c.-166-77G>A	CBLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	LMAN1, MALT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	PARD6G, PHLPP1 +85 more	Copy number gain	Global developmental delay	GPathogenic
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 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 816036	GRCh37/hg19 18q22.1-22.3(chr18:63585740-70885038)x3	DSEL, RTTN +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 688621	GRCh37/hg19 18q22.3(chr18:69163716-72387913)x3	C18orf63, CBLN2 +8 more	Copy number gain	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 635891	Single allele	ADNP2, ATP9B +37 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626290	Single allele	ADNP2, ATP9B +59 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564570	GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	PMAIP1, GALR1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564569	GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	DIPK1C, SLC66A2 +64 more	Copy number loss	not provided	GPathogenic
Select item 564567	GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1	CDH7, DOK6 +55 more	Copy number loss	not provided	GPathogenic
Select item 564566	GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1	ZNF236, TIMM21 +52 more	Copy number loss	not provided	GPathogenic
Select item 564561	GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1	ADNP2, ATP9B +35 more	Copy number loss	not provided	GPathogenic
Select item 564560	GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1	ADNP2, ATP9B +35 more	Copy number loss	not provided	GPathogenic
Select item 564558	GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1	ZNF516, FBXO15 +32 more	Copy number loss	not provided	GPathogenic
Select item 564556	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ATP9B, CBLN2 +28 more	Copy number loss	not provided	GPathogenic
Select item 564546	GRCh37/hg19 18q22.3(chr18:68734452-72023650)x3	C18orf63, CBLN2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 559585	Single allele	SLC66A2, SALL3 +35 more	Deletion	Intestinal malrotation	GPathogenic
Select item 446333	GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1	CD226, CDH19 +37 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443765	GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1	ADNP2, ATP9B +32 more	Copy number loss	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443563	GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443197	GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 443044	GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1	ADNP2, ATP9B +37 more	Copy number loss	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442501	GRCh37/hg19 18q22.3(chr18:68882563-70924764)x1	CBLN2, NETO1	Copy number loss	See cases	GLikely benign
Select item 442460	GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1	ADNP2, ALPK2 +79 more	Copy number loss	See cases	GPathogenic
Select item 442435	GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1	ADNP2, ATP9B +56 more	Copy number loss	See cases	GPathogenic
Select item 442385	GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1	ADNP2, ATP9B +35 more	Copy number loss	See cases	GPathogenic
Select item 442227	GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1	ADNP2, ATP9B +55 more	Copy number loss	See cases	GPathogenic
Select item 442106	GRCh37/hg19 18q22.3(chr18:69072914-70454462)x1	CBLN2, NETO1	Copy number loss	See cases	GUncertain significance
Select item 441859	GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1	ADNP2, ATP9B +58 more	Copy number loss	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 441581	GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	See cases	GPathogenic
Select item 395519	GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1	ADNP2, ATP9B +34 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 369836	GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1	ADNP2, ATP9B +57 more	Copy number loss	not provided	GLikely pathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic

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