2498[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 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 147608	GRCh38/hg38 18q23(chr18:75424051-80224243)x1	LOC130062797, LOC130062798 +160 more	Copy number loss	See cases	GPathogenic
Select item 60035	GRCh38/hg38 18q23(chr18:75843868-80209986)x1	ADNP2, ATP9B +154 more	Copy number loss	See cases	GPathogenic
Select item 152854	GRCh38/hg38 18q23(chr18:75875505-80252090)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 154303	GRCh38/hg38 18q23(chr18:75946906-80252149)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 147749	GRCh38/hg38 18q23(chr18:75988877-80252149)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 154513	GRCh38/hg38 18q23(chr18:76635470-80252149)x1	ADNP2, ATP9B +130 more	Copy number loss	See cases	GPathogenic
Select item 144196	GRCh38/hg38 18q23(chr18:77263709-80252149)x1	ADNP2, ATP9B +96 more	Copy number loss	See cases	GPathogenic
Select item 149091	GRCh38/hg38 18q23(chr18:78507911-80254946)x1	ADNP2, ATP9B +79 more	Copy number loss	See cases	GUncertain significance
Select item 60036	GRCh38/hg38 18q23(chr18:78869005-80252149)x1	ADNP2, ATP9B +72 more	Copy number loss	See cases	GPathogenic
Select item 60037	GRCh38/hg38 18q23(chr18:78892487-80209986)x1	ADNP2, ATP9B +71 more	Copy number loss	See cases	GPathogenic
Select item 58328	GRCh38/hg38 18q23(chr18:79475881-79766196)x1	LOC126862832, LOC129456126 +11 more	Copy number loss	See cases	GUncertain significance
Select item 1278218	NC_000018.10:g.79679532T>C	CTDP1, CTDP1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1249937	NC_000018.10:g.79679637G>T	CTDP1, CTDP1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1242329	NC_000018.10:g.79679756G>A	CTDP1	Single nucleotide variant	not provided	GBenign
Select item 1226092	NM_004715.5(CTDP1):c.-104G>T	CTDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1707384	NM_004715.5(CTDP1):c.-49G>C	CTDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1209235	NM_004715.5(CTDP1):c.-34C>T	CTDP1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3057683	NM_004715.5(CTDP1):c.-5C>T	CTDP1	Single nucleotide variant (5 prime UTR variant)	CTDP1-related disorder	GLikely benign
Select item 2103747	NM_004715.5(CTDP1):c.6G>T (p.Glu2Asp)	CTDP1 (E2D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896566	NM_004715.5(CTDP1):c.6G>A (p.Glu2=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051125	NM_004715.5(CTDP1):c.14C>T (p.Ala5Val)	CTDP1 (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567843	NM_004715.5(CTDP1):c.14C>A (p.Ala5Asp)	CTDP1 (A5D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2868462	NM_004715.5(CTDP1):c.27T>G (p.Val9=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504142	NM_004715.5(CTDP1):c.28C>T (p.Pro10Ser)	CTDP1 (P10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683461	NM_004715.5(CTDP1):c.34G>C (p.Glu12Gln)	CTDP1 (E12Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133093	NM_004715.5(CTDP1):c.42C>T (p.Ala14=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521381	NM_004715.5(CTDP1):c.43C>T (p.Pro15Ser)	CTDP1 (P15S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2808429	NM_004715.5(CTDP1):c.45G>A (p.Pro15=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102006	NM_004715.5(CTDP1):c.46A>C (p.Thr16Pro)	CTDP1 (T16P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057363	NM_004715.5(CTDP1):c.48G>A (p.Thr16=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087296	NM_004715.5(CTDP1):c.51G>A (p.Ala17=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095390	NM_004715.5(CTDP1):c.58G>T (p.Ala20Ser)	CTDP1 (A20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081160	NM_004715.5(CTDP1):c.58G>A (p.Ala20Thr)	CTDP1 (A20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719208	NM_004715.5(CTDP1):c.60C>T (p.Ala20=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525483	NM_004715.5(CTDP1):c.71G>T (p.Cys24Phe)	CTDP1 (C24F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2003770	NM_004715.5(CTDP1):c.73C>T (p.Pro25Ser)	CTDP1 (P25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373323	NM_004715.5(CTDP1):c.77G>A (p.Gly26Glu)	CTDP1 (G26E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 732570	NM_004715.5(CTDP1):c.78G>C (p.Gly26=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103722	NM_004715.5(CTDP1):c.81C>G (p.Pro27=)	CTDP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006590	NM_004715.5(CTDP1):c.92G>T (p.Arg31Leu)	CTDP1 (R31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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