28990[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 276

<< First< Prev

Page of 3

	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 2604705	NM_014643.4(ZNF516):c.3214C>A (p.Leu1072Ile)	ZNF516 (L1072I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291098	NM_014643.4(ZNF516):c.3104C>T (p.Ala1035Val)	ZNF516 (A1035V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253396	NM_014643.4(ZNF516):c.3094G>A (p.Val1032Met)	ZNF516 (V1032M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258486	NM_014643.4(ZNF516):c.3070G>A (p.Ala1024Thr)	ZNF516 (A1024T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648815	NM_014643.4(ZNF516):c.3066C>T (p.Gly1022=)	ZNF516	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2387299	NM_014643.4(ZNF516):c.3056G>T (p.Gly1019Val)	ZNF516 (G1019V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196363	NM_014643.4(ZNF516):c.3029T>C (p.Leu1010Pro)	ZNF516 (L1010P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221028	NM_014643.4(ZNF516):c.3022C>A (p.Gln1008Lys)	ZNF516 (Q1008K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196361	NM_014643.4(ZNF516):c.2999G>A (p.Arg1000His)	ZNF516 (R1000H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570002	NM_014643.4(ZNF516):c.2980G>A (p.Ala994Thr)	ZNF516 (A994T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648816	NM_014643.4(ZNF516):c.2913G>A (p.Pro971=)	ZNF516	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3196358	NM_014643.4(ZNF516):c.2894C>G (p.Thr965Arg)	ZNF516 (T965R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258485	NM_014643.4(ZNF516):c.2873C>T (p.Ala958Val)	ZNF516 (A958V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196357	NM_014643.4(ZNF516):c.2846C>T (p.Pro949Leu)	ZNF516 (P949L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258493	NM_014643.4(ZNF516):c.2831C>T (p.Ser944Leu)	ZNF516 (S944L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196356	NM_014643.4(ZNF516):c.2824C>G (p.Gln942Glu)	ZNF516 (Q942E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354083	NM_014643.4(ZNF516):c.2795C>T (p.Thr932Met)	ZNF516 (T932M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467944	NM_014643.4(ZNF516):c.2762G>A (p.Gly921Asp)	ZNF516 (G921D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408074	NM_014643.4(ZNF516):c.2745A>C (p.Lys915Asn)	ZNF516 (K915N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408073	NM_014643.4(ZNF516):c.2720A>C (p.Lys907Thr)	ZNF516 (K907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346987	NM_014643.4(ZNF516):c.2706G>C (p.Gln902His)	ZNF516 (Q902H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273220	NM_014643.4(ZNF516):c.2699C>T (p.Ala900Val)	ZNF516 (A900V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258483	NM_014643.4(ZNF516):c.2661G>C (p.Gln887His)	ZNF516 (Q887H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722417	NM_014643.4(ZNF516):c.2626G>T (p.Ala876Ser)	ZNF516 (A876S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2292349	NM_014643.4(ZNF516):c.2623T>C (p.Cys875Arg)	ZNF516 (C875R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196355	NM_014643.4(ZNF516):c.2607C>A (p.Ser869Arg)	ZNF516 (S869R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196354	NM_014643.4(ZNF516):c.2603A>G (p.Glu868Gly)	ZNF516 (E868G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196353	NM_014643.4(ZNF516):c.2581G>A (p.Ala861Thr)	ZNF516 (A861T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527001	NM_014643.4(ZNF516):c.2510G>A (p.Arg837His)	ZNF516 (R837H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196352	NM_014643.4(ZNF516):c.2414G>A (p.Ser805Asn)	ZNF516 (S805N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258484	NM_014643.4(ZNF516):c.2410A>G (p.Arg804Gly)	ZNF516 (R804G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514096	NM_014643.4(ZNF516):c.2396G>A (p.Gly799Asp)	ZNF516 (G799D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196351	NM_014643.4(ZNF516):c.2393A>G (p.Asn798Ser)	ZNF516 (N798S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376558	NM_014643.4(ZNF516):c.2363A>G (p.Asn788Ser)	ZNF516 (N788S)	Single nucleotide variant (missense variant)	not specified	GLikely benign

<< First< Prev

Page of 3