EPG5[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	LOC130062458, LOC130062459 +1658 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	ABHD3, ACAA2 +1655 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062797, LOC130062798 +1655 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	ABHD3, ACAA2 +1655 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LAMA1, LAMA3 +1655 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062444, LOC130062445 +1654 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ELOA2, ELP2 +1655 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC105372155, LOC105372173 +1655 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC129391008, LOC129456126 +1654 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1274 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC129390977, LOC129390978 +1096 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	FHOD3, GALNT1 +1274 more	Copy number gain	See cases	GPathogenic
Select item 3384215	Single allele	ANKRD29, AQP4 +445 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062805, LOC132090493 +1012 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +120 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +600 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +892 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +150 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	LOC130062486, LOC130062487 +884 more	Copy number gain	See cases	GPathogenic
Select item 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	ATP5F1A, EPG5 +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 4431517	NM_213602.3(SIGLEC15):c.-33G>A	EPG5, SIGLEC15	Single nucleotide variant (5 prime UTR variant +1 more)	Not Specified
Select item 3318503	NM_213602.3(SIGLEC15):c.11C>A (p.Ser4Tyr)	SIGLEC15, EPG5 (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 4165239	NM_213602.3(SIGLEC15):c.47C>T (p.Pro16Leu)	EPG5, SIGLEC15 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4431518	NM_213602.3(SIGLEC15):c.53-20T>A	EPG5, SIGLEC15	Single nucleotide variant (intron variant)	Not Specified
Select item 4583864	NM_213602.3(SIGLEC15):c.82A>C (p.Thr28Pro)	EPG5, SIGLEC15 (T28P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3954480	NM_213602.3(SIGLEC15):c.85G>A (p.Glu29Lys)	EPG5, SIGLEC15 (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3388399	NM_213602.3(SIGLEC15):c.128G>T (p.Arg43Leu)	EPG5, SIGLEC15 (R43L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 3441868	NM_213602.3(SIGLEC15):c.163G>C (p.Glu55Gln)	EPG5, SIGLEC15 (E55Q)	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 3441866	NM_213602.3(SIGLEC15):c.206C>G (p.Pro69Arg)	EPG5, SIGLEC15 (P69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4583862	NM_213602.3(SIGLEC15):c.223G>C (p.Gly75Arg)	EPG5, SIGLEC15 (G75R)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3795953	NM_213602.3(SIGLEC15):c.233C>T (p.Thr78Met)	EPG5, SIGLEC15 (T78M)	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 4165236	NM_213602.3(SIGLEC15):c.283T>C (p.Cys95Arg)	EPG5, SIGLEC15 (C95R)	Single nucleotide variant (missense variant +1 more)	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 4165240	NM_213602.3(SIGLEC15):c.335G>A (p.Gly112Asp)	EPG5, SIGLEC15 (G112D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3795948	NM_213602.3(SIGLEC15):c.337C>T (p.Arg113Cys)	EPG5, SIGLEC15 (R113C)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3954478	NM_213602.3(SIGLEC15):c.364C>T (p.Arg122Cys)	EPG5, SIGLEC15 (R122C)	Single nucleotide variant (missense variant +1 more)	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 3441867	NM_213602.3(SIGLEC15):c.383G>C (p.Arg128Pro)	EPG5, SIGLEC15 (R128P)	Single nucleotide variant (missense variant +1 more)	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 4165234	NM_213602.3(SIGLEC15):c.439G>T (p.Ala147Ser)	EPG5, SIGLEC15 (A147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4583865	NM_213602.3(SIGLEC15):c.467G>A (p.Ser156Asn)	EPG5, SIGLEC15 (S156N)	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 3795949	NM_213602.3(SIGLEC15):c.489C>A (p.His163Gln)	EPG5, SIGLEC15 (H163Q)	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 4165235	NM_213602.3(SIGLEC15):c.505C>T (p.Arg169Trp)	EPG5, SIGLEC15 (R169W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4583860	NM_213602.3(SIGLEC15):c.523G>A (p.Val175Met)	EPG5, SIGLEC15 (V175M)	Single nucleotide variant (missense variant +1 more)	not specified	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 3441870	NM_213602.3(SIGLEC15):c.545C>A (p.Ala182Asp)	EPG5, SIGLEC15 (A182D)	Single nucleotide variant (missense variant +1 more)	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 4165238	NM_213602.3(SIGLEC15):c.601G>A (p.Gly201Ser)	EPG5, SIGLEC15 (G201S)	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=)	SIGLEC15, EPG5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3441871	NM_213602.3(SIGLEC15):c.643C>T (p.Arg215Cys)	EPG5, SIGLEC15 (R215C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3795954	NM_213602.3(SIGLEC15):c.707C>A (p.Thr236Lys)	EPG5, SIGLEC15 (T236K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4583863	NM_213602.3(SIGLEC15):c.754C>A (p.Leu252Met)	EPG5, SIGLEC15 (L252M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3954474	NM_213602.3(SIGLEC15):c.755T>A (p.Leu252Gln)	EPG5, SIGLEC15 (L252Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3954477	NM_213602.3(SIGLEC15):c.760C>T (p.Arg254Cys)	EPG5, SIGLEC15 (R254C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4534163	NM_213602.3(SIGLEC15):c.771C>T (p.Gly257=)	EPG5, SIGLEC15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3954476	NM_213602.3(SIGLEC15):c.809C>A (p.Ala270Asp)	EPG5, SIGLEC15 (A270D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1247677	NM_213602.3(SIGLEC15):c.817T>C (p.Phe273Leu)	EPG5, SIGLEC15 (F273L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513331	NM_213602.3(SIGLEC15):c.824C>T (p.Ala275Val)	EPG5, SIGLEC15 (A275V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3954473	NM_213602.3(SIGLEC15):c.841G>A (p.Val281Ile)	EPG5, SIGLEC15 (V281I)	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 3795950	NM_213602.3(SIGLEC15):c.868C>A (p.Arg290Ser)	EPG5, SIGLEC15 (R290S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3441869	NM_213602.3(SIGLEC15):c.896C>A (p.Thr299Asn)	EPG5, SIGLEC15 (T299N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3795951	NM_213602.3(SIGLEC15):c.904C>G (p.Arg302Gly)	EPG5, SIGLEC15 (R302G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 4583859	NM_213602.3(SIGLEC15):c.914C>A (p.Ala305Asp)	EPG5, SIGLEC15 (A305D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3954479	NM_213602.3(SIGLEC15):c.950A>G (p.Asn317Ser)	EPG5, SIGLEC15 (N317S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3954472	NM_213602.3(SIGLEC15):c.955C>T (p.Arg319Trp)	EPG5, SIGLEC15 (R319W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3954471	NM_213602.3(SIGLEC15):c.956G>A (p.Arg319Gln)	EPG5, SIGLEC15 (R319Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 4165237	NM_213602.3(SIGLEC15):c.982C>A (p.Pro328Thr)	EPG5, SIGLEC15 (P328T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 4431519	NM_213602.3(SIGLEC15):c.*209G>T	EPG5, SIGLEC15	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified
Select item 4431520	NM_020964.3(EPG5):c.*3095T>A	EPG5	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified
Select item 4431521	NM_020964.3(EPG5):c.*765G>A	EPG5	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified
Select item 1190961	NM_020964.3(EPG5):c.*270G>A	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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