DSEL[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 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
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 148772	GRCh38/hg38 18q22.1(chr18:67386283-67981280)x3	DSEL, DSEL-AS1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 147486	GRCh38/hg38 18q22.1(chr18:67425228-67772635)x1	DSEL, DSEL-AS1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 151969	GRCh38/hg38 18q22.1(chr18:67442845-67937206)x1	DSEL, DSEL-AS1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3273838	NM_032160.3(DSEL):c.3605T>G (p.Met1202Arg)	DSEL (M1202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546937	NM_032160.3(DSEL):c.3566A>G (p.Asp1189Gly)	DSEL (D1189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623593	NM_032160.3(DSEL):c.3562A>G (p.Arg1188Gly)	DSEL (R1188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085935	NM_032160.3(DSEL):c.3559C>A (p.Pro1187Thr)	DSEL (P1187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085934	NM_032160.3(DSEL):c.3355C>G (p.Pro1119Ala)	DSEL (P1119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326854	NM_032160.3(DSEL):c.3329C>T (p.Ala1110Val)	DSEL (A1110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085933	NM_032160.3(DSEL):c.3245A>C (p.Glu1082Ala)	DSEL (E1082A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244106	NM_032160.3(DSEL):c.3242A>G (p.Tyr1081Cys)	DSEL (Y1081C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257798	NM_032160.3(DSEL):c.3067T>C (p.Ser1023Pro)	DSEL (S1023P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484471	NM_032160.3(DSEL):c.3050A>G (p.Gln1017Arg)	DSEL (Q1017R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266609	NM_032160.3(DSEL):c.2929G>A (p.Ala977Thr)	DSEL (A977T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085932	NM_032160.3(DSEL):c.2903C>T (p.Pro968Leu)	DSEL (P968L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783071	NM_032160.3(DSEL):c.2824C>T (p.Pro942Ser)	DSEL (P942S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2227136	NM_032160.3(DSEL):c.2789C>T (p.Thr930Ile)	DSEL (T930I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602489	NM_032160.3(DSEL):c.2750G>A (p.Arg917His)	DSEL (R917H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273839	NM_032160.3(DSEL):c.2735G>T (p.Arg912Leu)	DSEL (R912L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331331	NM_032160.3(DSEL):c.2734C>T (p.Arg912Cys)	DSEL (R912C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619124	NM_032160.3(DSEL):c.2474A>G (p.Gln825Arg)	DSEL (Q825R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342810	NM_032160.3(DSEL):c.2405G>A (p.Arg802Gln)	DSEL (R802Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273837	NM_032160.3(DSEL):c.2324C>T (p.Ala775Val)	DSEL (A775V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365526	NM_032160.3(DSEL):c.2240G>A (p.Arg747Gln)	DSEL (R747Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719335	NM_032160.3(DSEL):c.2189A>G (p.Tyr730Cys)	DSEL (Y730C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3273841	NM_032160.3(DSEL):c.2143G>T (p.Val715Phe)	DSEL (V715F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359690	NM_032160.3(DSEL):c.2090G>C (p.Ser697Thr)	DSEL (S697T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508843	NM_032160.3(DSEL):c.1915C>A (p.His639Asn)	DSEL (H639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598455	NM_032160.3(DSEL):c.1859A>G (p.Tyr620Cys)	DSEL (Y620C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085929	NM_032160.3(DSEL):c.1841A>G (p.Tyr614Cys)	DSEL (Y614C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361943	NM_032160.3(DSEL):c.1767G>C (p.Arg589Ser)	DSEL (R589S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276991	NM_032160.3(DSEL):c.1712G>A (p.Arg571His)	DSEL (R571H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558036	NM_032160.3(DSEL):c.1700A>G (p.Lys567Arg)	DSEL (K567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267591	NM_032160.3(DSEL):c.1694G>A (p.Arg565Lys)	DSEL (R565K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085928	NM_032160.3(DSEL):c.1669G>A (p.Val557Met)	DSEL (V557M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487153	NM_032160.3(DSEL):c.1618A>G (p.Ile540Val)	DSEL (I540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526855	NM_032160.3(DSEL):c.1600G>C (p.Gly534Arg)	DSEL (G534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317704	NM_032160.3(DSEL):c.1477A>C (p.Lys493Gln)	DSEL (K493Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314825	NM_032160.3(DSEL):c.1439A>G (p.Asn480Ser)	DSEL (N480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529002	NM_032160.3(DSEL):c.1392C>G (p.Asn464Lys)	DSEL (N464K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393254	NM_032160.3(DSEL):c.1328G>A (p.Arg443Gln)	DSEL (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273843	NM_032160.3(DSEL):c.1246G>T (p.Gly416Cys)	DSEL (G416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085926	NM_032160.3(DSEL):c.1186C>G (p.Leu396Val)	DSEL (L396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410867	NM_032160.3(DSEL):c.1108A>G (p.Lys370Glu)	DSEL (K370E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373348	NM_032160.3(DSEL):c.1061A>C (p.Asn354Thr)	DSEL (N354T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 449545	NM_032160.3(DSEL):c.972_987dup (p.Ala330fs)	DSEL (A330fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2289344	NM_032160.3(DSEL):c.976A>G (p.Thr326Ala)	DSEL (T326A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273840	NM_032160.3(DSEL):c.887G>A (p.Arg296His)	DSEL (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085937	NM_032160.3(DSEL):c.886C>T (p.Arg296Cys)	DSEL (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618247	NM_032160.3(DSEL):c.845A>G (p.Tyr282Cys)	DSEL (Y282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272192	NM_032160.3(DSEL):c.832G>A (p.Ala278Thr)	DSEL (A278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273842	NM_032160.3(DSEL):c.767A>T (p.Asp256Val)	DSEL (D256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604907	NM_032160.3(DSEL):c.640C>T (p.Arg214Cys)	DSEL (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548762	NM_032160.3(DSEL):c.634A>G (p.Lys212Glu)	DSEL (K212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541906	NM_032160.3(DSEL):c.601T>C (p.Trp201Arg)	DSEL (W201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648797	NM_032160.3(DSEL):c.577A>C (p.Arg193=)	DSEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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