ATP9B[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 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 60034	GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	ATP9B, C18orf63 +149 more	Copy number loss	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 153882	GRCh38/hg38 18q23(chr18:77261157-79635779)x3	ATP9B, GALR1 +57 more	Copy number gain	See cases	GUncertain significance
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 152953	GRCh38/hg38 18q23(chr18:78624742-79170040)x3	ATP9B, LINC01896 +10 more	Copy number gain	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 3132084	NM_198531.5(ATP9B):c.7G>T (p.Asp3Tyr)	ATP9B (D3Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330231	NM_198531.5(ATP9B):c.14T>A (p.Ile5Asn)	ATP9B (I5N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608258	NM_198531.5(ATP9B):c.14T>G (p.Ile5Ser)	ATP9B (I5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237794	NM_198531.5(ATP9B):c.17C>T (p.Pro6Leu)	ATP9B (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132077	NM_198531.5(ATP9B):c.26C>T (p.Pro9Leu)	ATP9B (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132080	NM_198531.5(ATP9B):c.31C>T (p.Arg11Cys)	ATP9B (R11C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396250	NM_198531.5(ATP9B):c.40G>C (p.Ala14Pro)	ATP9B (A14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648821	NM_198531.5(ATP9B):c.48C>T (p.Ala16=)	ATP9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271792	NM_198531.5(ATP9B):c.65G>T (p.Arg22Leu)	ATP9B (R22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132083	NM_198531.5(ATP9B):c.71C>T (p.Ala24Val)	ATP9B (A24V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588081	NM_198531.5(ATP9B):c.80G>T (p.Ser27Ile)	ATP9B (S27I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295762	NM_198531.5(ATP9B):c.109C>T (p.Arg37Trp)	ATP9B (R37W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334620	NM_198531.5(ATP9B):c.143C>T (p.Ala48Val)	ATP9B (A48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318685	NM_198531.5(ATP9B):c.146A>T (p.His49Leu)	ATP9B (H49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132069	NM_198531.5(ATP9B):c.181G>C (p.Gly61Arg)	ATP9B (G61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465681	NM_198531.5(ATP9B):c.193G>A (p.Glu65Lys)	ATP9B (E65K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512497	NM_198531.5(ATP9B):c.221G>A (p.Arg74Gln)	ATP9B (R74Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132078	NM_198531.5(ATP9B):c.271G>A (p.Gly91Ser)	ATP9B (G91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333761	NM_198531.5(ATP9B):c.310A>G (p.Ile104Val)	ATP9B (I104V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2554506	NM_198531.5(ATP9B):c.347G>A (p.Arg116His)	ATP9B (R116H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311463	NM_198531.5(ATP9B):c.349A>C (p.Thr117Pro)	ATP9B (T117P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311464	NM_198531.5(ATP9B):c.350C>T (p.Thr117Ile)	ATP9B (T117I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710890	NM_198531.5(ATP9B):c.351A>C (p.Thr117=)	ATP9B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2347197	NM_198531.5(ATP9B):c.550G>A (p.Ala184Thr)	ATP9B (A184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204257	NM_198531.5(ATP9B):c.586C>T (p.Arg196Trp)	ATP9B (R196W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204663	NM_198531.5(ATP9B):c.587G>A (p.Arg196Gln)	ATP9B (R196Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368167	NM_198531.5(ATP9B):c.611G>A (p.Arg204His)	ATP9B (R204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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