ClinVar for Gene (Select 25941) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328278	NM_015476.4(TPGS2):c.122A>G (p.Glu41Gly)	TPGS2 (E41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328276	NM_015476.4(TPGS2):c.787A>C (p.Lys263Gln)	TPGS2 (K220Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328275	NM_015476.4(TPGS2):c.482A>G (p.Lys161Arg)	TPGS2 (K113R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181535	NM_015476.4(TPGS2):c.688T>C (p.Tyr230His)	TPGS2 (Y195H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181534	NM_015476.4(TPGS2):c.469T>A (p.Cys157Ser)	TPGS2 (C122S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181533	NM_015476.4(TPGS2):c.452A>G (p.Asn151Ser)	TPGS2 (N108S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181532	NM_015476.4(TPGS2):c.397C>A (p.Pro133Thr)	TPGS2 (P85T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181531	NM_015476.4(TPGS2):c.304A>T (p.Thr102Ser)	TPGS2 (T102S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2648682	NM_015476.4(TPGS2):c.810A>C (p.Ala270=)	TPGS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648681	NM_001271956.2(TPGS2):c.658-6749G>A	TPGS2 (R267Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2570481	NM_015476.4(TPGS2):c.411C>G (p.His137Gln)	TPGS2 (H102Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380896	NM_015476.4(TPGS2):c.434T>C (p.Phe145Ser)	TPGS2 (F102S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268590	NM_015476.4(TPGS2):c.23C>T (p.Pro8Leu)	TPGS2 (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263714	NM_015476.4(TPGS2):c.736C>G (p.Leu246Val)	TPGS2 (L203V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809317	GRCh37/hg19 18q12.2(chr18:33748335-34810178)x3	ELP2, FHOD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808952	GRCh37/hg19 18q12.2(chr18:33908661-35007766)x3	CELF4, FHOD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808371	GRCh37/hg19 18q12.2(chr18:34278224-34957600)x3	CELF4, FHOD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807844	GRCh37/hg19 18q12.2(chr18:33748335-34813244)x3	ELP2, FHOD3 +3 more	Copy number gain	not provided	GUncertain significance
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 1340815	GRCh37/hg19 18q12.2(chr18:33748334-34810178)x3	ELP2, FHOD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340677	GRCh37/hg19 18q12.2(chr18:33571456-34552945)x1	MOCOS, ELP2 +5 more	Copy number loss	not provided	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 815999	GRCh37/hg19 18q12.2(chr18:33384923-34561159)x3	C18orf21, ELP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688491	GRCh37/hg19 18q12.2(chr18:34329914-34393338)x3	FHOD3, TPGS2	Copy number gain	not provided	GUncertain significance
Select item 687961	GRCh37/hg19 18q12.2(chr18:34342046-34421106)x3	FHOD3, KIAA1328 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687924	GRCh37/hg19 18q12.2(chr18:33946587-34851756)x1	CELF4, FHOD3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 625733	GRCh37/hg19 18q12.2(chr18:33554981-36939357)	C18orf21, CELF4 +7 more	Copy number loss	not provided	GPathogenic
Select item 564554	GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1	ASXL3, C18orf21 +22 more	Copy number loss	not provided	GPathogenic
Select item 564529	GRCh37/hg19 18q12.2(chr18:33748334-34813244)x3	MOCOS, FHOD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564520	GRCh37/hg19 18q12.2(chr18:34276535-34965488)x3	KIAA1328, TPGS2 +2 more	Copy number gain	not provided	GLikely benign
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 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	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 442113	GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1	ASXL3, C18orf21 +19 more	Copy number loss	See cases	GLikely pathogenic
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
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +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 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154263	GRCh38/hg38 18q12.2(chr18:35990843-36963685)x1	COSMOC, ELP2 +23 more	Copy number loss	See cases	GUncertain significance
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 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 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 148649	GRCh38/hg38 18q12.2(chr18:36805951-37082602)x1	KIAA1328, LOC105372069 +2 more	Copy number loss	See cases	GUncertain significance
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 146664	GRCh38/hg38 18q12.2(chr18:36798395-37271836)x3	CELF4, KIAA1328 +6 more	Copy number gain	See cases	GBenign
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 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 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 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 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 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

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Links from Gene

Items: 70