28697[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 60034	GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	ATP9B, C18orf63 +149 more	Copy number loss	See cases	GPathogenic
Select item 3220811	NM_175907.6(PTGR3):c.1121A>G (p.Asn374Ser)	PTGR3 (N374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220810	NM_175907.6(PTGR3):c.1121A>C (p.Asn374Thr)	PTGR3 (N251T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311324	NM_175907.6(PTGR3):c.1085C>T (p.Thr362Ile)	PTGR3 (T362I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220809	NM_175907.6(PTGR3):c.1070A>T (p.Tyr357Phe)	PTGR3 (Y234F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311323	NM_175907.6(PTGR3):c.1060A>G (p.Asn354Asp)	PTGR3 (N354D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461380	NM_175907.6(PTGR3):c.1052G>T (p.Arg351Leu)	PTGR3 (R228L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549614	NM_175907.6(PTGR3):c.1039G>A (p.Glu347Lys)	PTGR3 (E224K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220829	NM_175907.6(PTGR3):c.999C>G (p.Asp333Glu)	PTGR3 (D210E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220828	NM_175907.6(PTGR3):c.964A>T (p.Met322Leu)	PTGR3 (M199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220827	NM_175907.6(PTGR3):c.961G>A (p.Glu321Lys)	PTGR3 (E198K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220825	NM_175907.6(PTGR3):c.863C>T (p.Thr288Ile)	PTGR3 (T165I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220824	NM_175907.6(PTGR3):c.845C>T (p.Ser282Leu)	PTGR3 (S159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220823	NM_175907.6(PTGR3):c.836C>T (p.Thr279Ile)	PTGR3 (T156I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220822	NM_175907.6(PTGR3):c.734A>G (p.Tyr245Cys)	PTGR3 (Y122C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220821	NM_175907.6(PTGR3):c.664A>G (p.Ile222Val)	PTGR3 (I222V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220820	NM_175907.6(PTGR3):c.620A>C (p.Asp207Ala)	PTGR3 (D207A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220819	NM_175907.6(PTGR3):c.551G>A (p.Gly184Glu)	PTGR3 (G184E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311319	NM_175907.6(PTGR3):c.547G>C (p.Gly183Arg)	PTGR3 (G183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311321	NM_175907.6(PTGR3):c.532G>A (p.Val178Met)	PTGR3 (V178M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220818	NM_175907.6(PTGR3):c.473C>T (p.Thr158Ile)	PTGR3 (T158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311318	NM_175907.6(PTGR3):c.370A>G (p.Met124Val)	PTGR3 (M124V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519564	NM_175907.6(PTGR3):c.346A>G (p.Thr116Ala)	PTGR3 (T116A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3220815	NM_175907.6(PTGR3):c.302T>C (p.Ile101Thr)	PTGR3 (I101T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2482664	NM_175907.6(PTGR3):c.274C>G (p.Pro92Ala)	PTGR3 (P92A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3220814	NM_175907.6(PTGR3):c.226G>A (p.Ala76Thr)	PTGR3 (A76T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3220813	NM_175907.6(PTGR3):c.202C>T (p.Arg68Trp)	PTGR3 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534751	NM_175907.6(PTGR3):c.154A>C (p.Ser52Arg)	PTGR3 (S52R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456460	NM_175907.6(PTGR3):c.149C>A (p.Thr50Asn)	PTGR3 (T50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311322	NM_175907.6(PTGR3):c.127C>A (p.Pro43Thr)	PTGR3 (P43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220812	NM_175907.6(PTGR3):c.118C>T (p.Arg40Trp)	PTGR3 (R40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495035	NM_175907.6(PTGR3):c.92A>T (p.Gln31Leu)	PTGR3 (Q31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220817	NM_175907.6(PTGR3):c.34A>G (p.Ile12Val)	PTGR3 (I12V)	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 3063551	GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1	ADNP2, ATP9B +19 more	Copy number loss	not specified	GPathogenic
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 2685626	GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic

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