SIGLEC15[gene] - ClinVar

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Items: 82

	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 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)	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 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 (intron variant +1 more)	not provided	GLikely benign
Select item 3242804	NC_000018.9:g.(?_42281312)_(45423127_?)del	ARK2C, ARK2N +17 more	Deletion	not provided	GPathogenic
Select item 3063562	GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1	ARK2C, ARK2N +11 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 2684876	GRCh37/hg19 18q12.3(chr18:42755010-43472426)x3	EPG5, SIGLEC15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2426180	NC_000018.9:g.(?_42281312)_(44236996_?)del	ARK2C, ARK2N +9 more	Deletion	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1412018	NC_000018.9:g.(?_42281312)_(45423127_?)dup	ARK2C, ARK2N +17 more	Duplication	Vici syndrome +1 more	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 816011	GRCh37/hg19 18q12.3-21.1(chr18:41630585-45107905)x1	SLC14A2, EPG5 +16 more	Copy number loss	not provided	GPathogenic
Select item 816010	GRCh37/hg19 18q12.3-21.1(chr18:39800804-44365152)x1	ST8SIA5, RNF165 +12 more	Copy number loss	not provided	GPathogenic
Select item 816009	GRCh37/hg19 18q12.3(chr18:43333184-43446868)x1	EPG5, SIGLEC15	Copy number loss	not provided	GUncertain significance
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 82