9182[HGNC] - 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 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 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 59964	GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1	C18orf54, CCDC68 +62 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 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 2481804	NM_007195.3(POLI):c.67G>A (p.Ala23Thr)	POLI (A23T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491488	NM_007195.3(POLI):c.109T>A (p.Ser37Thr)	LOC130062530, POLI (S12T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295587	NM_007195.3(POLI):c.187T>G (p.Phe63Val)	POLI (F63V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3216352	NM_007195.3(POLI):c.208A>G (p.Ile70Val)	POLI (I2V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3308474	NM_007195.3(POLI):c.212C>T (p.Ser71Leu)	POLI (S46L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2239857	NM_007195.3(POLI):c.229G>C (p.Asp77His)	POLI (D52H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2331230	NM_007195.3(POLI):c.257A>G (p.Tyr86Cys)	POLI (Y44C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249269	NM_007195.3(POLI):c.276C>G (p.Asn92Lys)	POLI (N67K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216355	NM_007195.3(POLI):c.311T>C (p.Met104Thr)	POLI (M1T +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2473378	NM_007195.3(POLI):c.311T>G (p.Met104Arg)	POLI (M62R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3216356	NM_007195.3(POLI):c.362G>A (p.Gly121Glu)	POLI (G18E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280813	NM_007195.3(POLI):c.374C>G (p.Thr125Ser)	POLI (T22S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605483	NM_007195.3(POLI):c.388A>G (p.Met130Val)	POLI (M62V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609559	NM_007195.3(POLI):c.424A>C (p.Ser142Arg)	POLI (S100R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216357	NM_007195.3(POLI):c.588C>G (p.Ile196Met)	POLI (I154M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216358	NM_007195.3(POLI):c.731C>T (p.Thr244Ile)	POLI (T219I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226148	NM_007195.3(POLI):c.757C>T (p.His253Tyr)	POLI (H185Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222335	NM_007195.3(POLI):c.781A>C (p.Ile261Leu)	POLI (I193L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387327	NM_007195.3(POLI):c.836G>C (p.Gly279Ala)	POLI (G254A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219669	NM_007195.3(POLI):c.1027A>G (p.Lys343Glu)	POLI (K162E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308471	NM_007195.3(POLI):c.1036A>T (p.Ile346Phe)	POLI (I225F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531457	NM_007195.3(POLI):c.1094A>C (p.His365Pro)	POLI (H297P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590547	NM_007195.3(POLI):c.1121A>G (p.Tyr374Cys)	POLI (Y193C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600707	NM_007195.3(POLI):c.1138T>A (p.Tyr380Asn)	POLI (Y301N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216347	NM_007195.3(POLI):c.1153C>T (p.Arg385Cys)	POLI (R317C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57286	GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1	C18orf54, CCDC68 +33 more	Copy number loss	See cases	GPathogenic
Select item 3216349	NM_007195.3(POLI):c.1228G>C (p.Asp410His)	POLI (D289H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551502	NM_007195.3(POLI):c.1256T>C (p.Met419Thr)	POLI (M159T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269981	NM_007195.3(POLI):c.1416C>G (p.Asp472Glu)	POLI (D404E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327250	NM_007195.3(POLI):c.1522A>G (p.Asn508Asp)	POLI (N483D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405840	NM_007195.3(POLI):c.1543A>G (p.Ile515Val)	POLI (I255V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216350	NM_007195.3(POLI):c.1691C>A (p.Ala564Asp)	POLI (A304D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308476	NM_007195.3(POLI):c.1694C>T (p.Ser565Phe)	POLI (S305F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272020	NM_007195.3(POLI):c.1708T>C (p.Ser570Pro)	POLI (S389P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273770	NM_007195.3(POLI):c.1715T>G (p.Phe572Cys)	POLI (F493C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216351	NM_007195.3(POLI):c.1733A>G (p.Gln578Arg)	POLI (Q318R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308475	NM_007195.3(POLI):c.1736A>G (p.Asp579Gly)	POLI (D319G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308479	NM_007195.3(POLI):c.1768A>G (p.Ser590Gly)	POLI (S330G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308472	NM_007195.3(POLI):c.1780G>C (p.Val594Leu)	POLI (V413L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308470	NM_007195.3(POLI):c.1790T>C (p.Val597Ala)	POLI (V518A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529158	NM_007195.3(POLI):c.1855A>G (p.Lys619Glu)	POLI (K516E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294037	NM_007195.3(POLI):c.1867T>C (p.Tyr623His)	POLI (Y555H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349537	NM_007195.3(POLI):c.1898G>A (p.Arg633Gln)	POLI (R373Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226389	NM_007195.3(POLI):c.1907A>C (p.Gln636Pro)	POLI (Q557P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274532	NM_007195.3(POLI):c.1964C>T (p.Ala655Val)	POLI (A395V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2545724	NM_007195.3(POLI):c.2000T>C (p.Leu667Pro)	POLI (L486P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298005	NM_007195.3(POLI):c.2006C>T (p.Ser669Phe)	POLI (S488F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308477	NM_007195.3(POLI):c.2023G>A (p.Asp675Asn)	POLI (D415N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308478	NM_007195.3(POLI):c.2072A>G (p.Glu691Gly)	POLI (E588G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216353	NM_007195.3(POLI):c.2092G>A (p.Val698Ile)	POLI (V595I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465216	NM_007195.3(POLI):c.2137T>C (p.Phe713Leu)	POLI (F645L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2684877	GRCh37/hg19 18q21.2(chr18:51003914-53456476)x3	C18orf54, CCDC68 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808019	GRCh37/hg19 18q21.2(chr18:49666138-51804494)x3	DCC, MBD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807635	GRCh37/hg19 18q21.2(chr18:51223984-53001044)x3	C18orf54, CCDC68 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526620	GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	ALPK2, ATP8B1 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526619	GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248)	BOD1L2, C18orf54 +12 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 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	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 816501	GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3	DYNAP, C18orf54 +5 more	Copy number gain	See cases	GUncertain significance
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	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 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	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 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 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic

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