57724[Gene ID] - 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 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 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 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 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 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 147605	GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1	ARK2C, ARK2N +74 more	Copy number loss	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 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	LINC01601, LOC110121352 +55 more	Copy number loss	See cases	GPathogenic
Select item 147502	GRCh38/hg38 18q12.3(chr18:44401938-45869924)x1	EPG5, LINC01478 +37 more	Copy number loss	See cases	GUncertain significance
Select item 58781	GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3	ARK2C, ARK2N +35 more	Copy number gain	See cases	GPathogenic
Select item 2687932	NM_001410858.1(EPG5):c.7577T>C (p.Phe2526Ser)	EPG5 (F2526S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3318503	NM_213602.3(SIGLEC15):c.11C>A (p.Ser4Tyr)	EPG5, SIGLEC15 (S4Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514863	NM_213602.3(SIGLEC15):c.35C>T (p.Ala12Val)	EPG5, SIGLEC15 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466436	NM_213602.3(SIGLEC15):c.90C>G (p.Asn30Lys)	EPG5, SIGLEC15 (N30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248290	NM_213602.3(SIGLEC15):c.93G>C (p.Leu31Phe)	EPG5, SIGLEC15 (L31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553452	NM_213602.3(SIGLEC15):c.113G>T (p.Ser38Ile)	EPG5, SIGLEC15 (S38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162195	NM_213602.3(SIGLEC15):c.158G>C (p.Ser53Thr)	EPG5, SIGLEC15 (S53T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324357	NM_213602.3(SIGLEC15):c.170G>A (p.Gly57Asp)	EPG5, SIGLEC15 (G57D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379899	NM_213602.3(SIGLEC15):c.185T>G (p.Leu62Arg)	EPG5, SIGLEC15 (L62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162196	NM_213602.3(SIGLEC15):c.190T>G (p.Cys64Gly)	EPG5, SIGLEC15 (C64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356866	NM_213602.3(SIGLEC15):c.239T>C (p.Ile80Thr)	EPG5, SIGLEC15 (I80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162197	NM_213602.3(SIGLEC15):c.293C>T (p.Ala98Val)	EPG5, SIGLEC15 (A98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473450	NM_213602.3(SIGLEC15):c.296G>C (p.Arg99Pro)	EPG5, SIGLEC15 (R99P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364019	NM_213602.3(SIGLEC15):c.333C>G (p.His111Gln)	EPG5, SIGLEC15 (H111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224513	NM_213602.3(SIGLEC15):c.382C>A (p.Arg128Ser)	EPG5, SIGLEC15 (R128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303222	NM_213602.3(SIGLEC15):c.388G>C (p.Glu130Gln)	EPG5, SIGLEC15 (E130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318502	NM_213602.3(SIGLEC15):c.418T>C (p.Tyr140His)	EPG5, SIGLEC15 (Y140H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539991	NM_213602.3(SIGLEC15):c.472C>T (p.His158Tyr)	EPG5, SIGLEC15 (H158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318501	NM_213602.3(SIGLEC15):c.482G>A (p.Arg161Gln)	EPG5, SIGLEC15 (R161Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648697	NM_213602.3(SIGLEC15):c.503C>G (p.Pro168Arg)	EPG5, SIGLEC15 (P168R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2254539	NM_213602.3(SIGLEC15):c.533G>C (p.Ser178Thr)	EPG5, SIGLEC15 (S178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335055	NM_213602.3(SIGLEC15):c.535C>G (p.Pro179Ala)	EPG5, SIGLEC15 (P179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277904	NM_213602.3(SIGLEC15):c.538G>A (p.Ala180Thr)	EPG5, SIGLEC15 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481227	NM_213602.3(SIGLEC15):c.551G>A (p.Arg184His)	EPG5, SIGLEC15 (R184H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219431	NM_213602.3(SIGLEC15):c.605C>A (p.Pro202Gln)	EPG5, SIGLEC15 (P202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879394	NM_213602.3(SIGLEC15):c.606G>A (p.Pro202=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3162198	NM_213602.3(SIGLEC15):c.613G>T (p.Gly205Cys)	EPG5, SIGLEC15 (G205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360943	NM_213602.3(SIGLEC15):c.631G>A (p.Val211Met)	EPG5, SIGLEC15 (V211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879395	NM_213602.3(SIGLEC15):c.642G>A (p.Pro214=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2384635	NM_213602.3(SIGLEC15):c.673G>A (p.Glu225Lys)	EPG5, SIGLEC15 (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406405	NM_213602.3(SIGLEC15):c.700C>G (p.Arg234Gly)	EPG5, SIGLEC15 (R234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247677	NM_213602.3(SIGLEC15):c.817T>C (p.Phe273Leu)	SIGLEC15, EPG5 (F273L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513331	NM_213602.3(SIGLEC15):c.824C>T (p.Ala275Val)	SIGLEC15, EPG5 (A275V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648698	NM_213602.3(SIGLEC15):c.855C>T (p.Arg285=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024803	NM_213602.3(SIGLEC15):c.984G>A (p.Pro328=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1190961	NM_020964.3(EPG5):c.*270G>A	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1223957	NM_020964.3(EPG5):c.*163GT[14]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1221331	NM_020964.3(EPG5):c.*163GT[15]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1181353	NM_020964.3(EPG5):c.*163GT[13]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1212265	NM_020964.3(EPG5):c.*163GT[11]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1708713	NM_020964.3(EPG5):c.*166T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1325952	NM_020964.3(EPG5):c.*164T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1253000	NM_020964.3(EPG5):c.*140G>A	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1261570	NM_020964.3(EPG5):c.*74T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189712	NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln)	EPG5 (R2579Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2101552	NM_020964.3(EPG5):c.7735C>T (p.Arg2579Ter)	EPG5 (R2578* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033560	NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly)	EPG5 (R2579G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1473636	NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn)	EPG5 (D2576N)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2788097	NM_020964.3(EPG5):c.7725G>A (p.Leu2575=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2896389	NM_020964.3(EPG5):c.7716G>T (p.Val2572=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2982208	NM_020964.3(EPG5):c.7707T>C (p.Tyr2569=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3008727	NM_020964.3(EPG5):c.7704G>C (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2908297	NM_020964.3(EPG5):c.7704G>A (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3008728	NM_020964.3(EPG5):c.7702C>T (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 639002	NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile)	EPG5 (V2565I)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 798069	NM_020964.3(EPG5):c.7692C>T (p.Leu2564=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1405510	NM_020964.3(EPG5):c.7690C>T (p.Leu2564Phe)	EPG5 (L2564F)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3017734	NM_020964.3(EPG5):c.7689T>G (p.Leu2563=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2825880	NM_020964.3(EPG5):c.7686T>C (p.Ala2562=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 1494085	NM_020964.3(EPG5):c.7685C>G (p.Ala2562Gly)	EPG5 (A2562G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1016333	NM_020964.3(EPG5):c.7684G>T (p.Ala2562Ser)	EPG5 (A2562S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2840784	NM_020964.3(EPG5):c.7680C>T (p.Phe2560=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 534618	NM_020964.3(EPG5):c.7674A>G (p.Lys2558=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1993737	NM_020964.3(EPG5):c.7672A>T (p.Lys2558Ter)	EPG5 (K2557* +1 more)	Single nucleotide variant (nonsense)	Vici syndrome	GUncertain significance
Select item 1153732	NM_020964.3(EPG5):c.7668T>C (p.Asp2556=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1466120	NM_020964.3(EPG5):c.7666G>A (p.Asp2556Asn)	EPG5 (D2556N)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1362288	NM_020964.3(EPG5):c.7660C>A (p.Leu2554Ile)	EPG5 (L2554I)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1006910	NM_020964.3(EPG5):c.7627G>A (p.Ala2543Thr)	EPG5 (A2543T)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2917802	NM_020964.3(EPG5):c.7626A>G (p.Gln2542=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 730422	NM_020964.3(EPG5):c.7621T>C (p.Leu2541=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2907490	NM_020964.3(EPG5):c.7617A>G (p.Gln2539=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 939008	NM_020964.3(EPG5):c.7612G>T (p.Asp2538Tyr)	EPG5 (D2538Y)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1087117	NM_020964.3(EPG5):c.7608C>T (p.Tyr2536=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1918223	NM_020964.3(EPG5):c.7603G>A (p.Glu2535Lys)	EPG5 (E2534K +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3089501	NM_020964.3(EPG5):c.7583C>T (p.Ala2528Val)	EPG5 (A2527V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547540	NM_020964.3(EPG5):c.7583C>G (p.Ala2528Gly)	EPG5 (A2527G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1400016	NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala)	EPG5 (S2526A)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2178700	NM_020964.3(EPG5):c.7569T>C (p.Ala2523=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign

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