ClinVar for Gene (Select 130062088) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275309	NM_032048.3(EMILIN2):c.2485C>T (p.Arg829Trp)	EMILIN2, LOC130062088 (R829W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275306	NM_032048.3(EMILIN2):c.2548C>G (p.Gln850Glu)	EMILIN2, LOC130062088 (Q850E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275304	NM_032048.3(EMILIN2):c.2491C>G (p.Pro831Ala)	EMILIN2, LOC130062088 (P831A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088613	NM_032048.3(EMILIN2):c.2608G>A (p.Gly870Ser)	EMILIN2, LOC130062088 (G870S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088612	NM_032048.3(EMILIN2):c.2570C>T (p.Ala857Val)	EMILIN2, LOC130062088 (A857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088611	NM_032048.3(EMILIN2):c.2489C>G (p.Pro830Arg)	EMILIN2, LOC130062088 (P830R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088610	NM_032048.3(EMILIN2):c.2413G>A (p.Glu805Lys)	EMILIN2, LOC130062088 (E805K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648521	NM_032048.3(EMILIN2):c.2481C>T (p.Pro827=)	EMILIN2, LOC130062088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622105	NM_032048.3(EMILIN2):c.2585G>A (p.Arg862Gln)	EMILIN2, LOC130062088 (R862Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600943	NM_032048.3(EMILIN2):c.2455G>C (p.Asp819His)	EMILIN2, LOC130062088 (D819H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600189	NM_032048.3(EMILIN2):c.2371C>T (p.Pro791Ser)	EMILIN2, LOC130062088 (P791S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2560111	NM_032048.3(EMILIN2):c.2436C>A (p.Ser812Arg)	EMILIN2, LOC130062088 (S812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533531	NM_032048.3(EMILIN2):c.2423C>G (p.Pro808Arg)	EMILIN2, LOC130062088 (P808R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527879	NM_032048.3(EMILIN2):c.2654G>A (p.Gly885Asp)	EMILIN2, LOC130062088 (G885D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515817	NM_032048.3(EMILIN2):c.2588G>A (p.Gly863Asp)	EMILIN2, LOC130062088 (G863D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488765	NM_032048.3(EMILIN2):c.2650G>A (p.Ala884Thr)	EMILIN2, LOC130062088 (A884T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481986	NM_032048.3(EMILIN2):c.2627C>T (p.Thr876Ile)	EMILIN2, LOC130062088 (T876I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474079	NM_032048.3(EMILIN2):c.2405T>G (p.Leu802Arg)	EMILIN2, LOC130062088 (L802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391784	NM_032048.3(EMILIN2):c.2457C>A (p.Asp819Glu)	EMILIN2, LOC130062088 (D819E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349908	NM_032048.3(EMILIN2):c.2401C>G (p.Pro801Ala)	EMILIN2, LOC130062088 (P801A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321799	NM_032048.3(EMILIN2):c.2636G>A (p.Gly879Asp)	EMILIN2, LOC130062088 (G879D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253807	NM_032048.3(EMILIN2):c.2500A>G (p.Arg834Gly)	EMILIN2, LOC130062088 (R834G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251117	NM_032048.3(EMILIN2):c.2512C>T (p.Pro838Ser)	EMILIN2, LOC130062088 (P838S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242664	NM_032048.3(EMILIN2):c.2443G>A (p.Ala815Thr)	EMILIN2, LOC130062088 (A815T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233048	NM_032048.3(EMILIN2):c.2402C>T (p.Pro801Leu)	EMILIN2, LOC130062088 (P801L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222309	NM_032048.3(EMILIN2):c.2579C>G (p.Ser860Cys)	EMILIN2, LOC130062088 (S860C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217546	NM_032048.3(EMILIN2):c.2480C>T (p.Pro827Leu)	EMILIN2, LOC130062088 (P827L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789343	NM_032048.3(EMILIN2):c.2360-11_2376del	EMILIN2, LOC130062088	Deletion (splice acceptor variant)	not provided	GBenign
Select item 777485	NM_032048.3(EMILIN2):c.2529G>A (p.Gly843=)	EMILIN2, LOC130062088	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 777264	NM_032048.3(EMILIN2):c.2562C>G (p.Pro854=)	EMILIN2, LOC130062088	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 762309	NM_032048.3(EMILIN2):c.2544G>C (p.Thr848=)	EMILIN2, LOC130062088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	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 155594	GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 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 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 154991	GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3	ADCYAP1, AKAIN1 +131 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 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 153999	GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1	ADCYAP1, CETN1 +114 more	Copy number loss	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	ZBTB14, ADCYAP1 +162 more	Copy number loss	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 152369	GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1	EMILIN2, ADCYAP1 +63 more	Copy number loss	See cases	GPathogenic
Select item 151983	GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1	ADCYAP1, CETN1 +120 more	Copy number loss	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 150684	GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1	ADCYAP1, AKAIN1 +127 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	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 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	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 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 148659	GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1	ADCYAP1, CETN1 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 146636	GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3	ADCYAP1, CETN1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 145664	GRCh38/hg38 18p11.32-11.31(chr18:2793029-3153983)x3	EMILIN2, LOC112538445 +20 more	Copy number gain	See cases	GLikely benign
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 59917	GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1	LOC130062117, LOC130062118 +109 more	Copy number loss	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 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 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	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

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Links from Gene

Items: 87