17311[HGNC] - ClinVar

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Items: 70

	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 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 2394687	NM_004671.5(PIAS2):c.1861G>A (p.Asp621Asn)	PIAS2 (D612N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212558	NM_004671.5(PIAS2):c.1825A>G (p.Ser609Gly)	PIAS2 (S600G +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 770451	NM_004671.5(PIAS2):c.1819A>G (p.Ile607Val)	PIAS2 (I599V +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3212557	NM_004671.5(PIAS2):c.1806T>A (p.Ser602Arg)	PIAS2 (S602R +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3306375	NM_004671.5(PIAS2):c.1767T>A (p.His589Gln)	PIAS2 (H589Q +3 more)	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 3212556	NM_004671.5(PIAS2):c.1709A>G (p.Asp570Gly)	PIAS2 (D562G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535243	NM_004671.5(PIAS2):c.1630A>G (p.Met544Val)	PIAS2 (M535V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212555	NM_004671.5(PIAS2):c.1573A>C (p.Ile525Leu)	PIAS2 (I516L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541324	NM_004671.5(PIAS2):c.1573A>G (p.Ile525Val)	PIAS2 (I525V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493585	NM_004671.5(PIAS2):c.1564C>A (p.Pro522Thr)	PIAS2 (P513T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212554	NM_004671.5(PIAS2):c.1518G>A (p.Met506Ile)	PIAS2 (M506I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303856	NM_004671.5(PIAS2):c.1421T>C (p.Ile474Thr)	PIAS2 (I465T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409149	NM_004671.5(PIAS2):c.1345G>A (p.Val449Ile)	PIAS2 (V440I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336182	NM_004671.5(PIAS2):c.1201G>A (p.Gly401Arg)	PIAS2 (G392R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244345	NM_004671.5(PIAS2):c.937A>G (p.Ile313Val)	PIAS2 (I304V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306374	NM_004671.5(PIAS2):c.785A>G (p.Asn262Ser)	PIAS2 (N253S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789494	NM_004671.5(PIAS2):c.690A>G (p.Leu230=)	PIAS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2529682	NM_004671.5(PIAS2):c.540T>G (p.Ile180Met)	PIAS2 (I184M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613505	NM_004671.5(PIAS2):c.460T>C (p.Tyr154His)	PIAS2 (Y154H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312818	NM_004671.5(PIAS2):c.451C>A (p.Leu151Met)	PIAS2 (L151M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339730	NM_004671.5(PIAS2):c.449A>G (p.Asn150Ser)	PIAS2 (N141S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212561	NM_004671.5(PIAS2):c.403C>T (p.Pro135Ser)	PIAS2 (P126S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475017	NM_004671.5(PIAS2):c.361G>C (p.Val121Leu)	PIAS2 (V121L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212560	NM_004671.5(PIAS2):c.308C>T (p.Ser103Leu)	PIAS2 (S107L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375191	NM_004671.5(PIAS2):c.305A>G (p.His102Arg)	PIAS2 (H102R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212559	NM_004671.5(PIAS2):c.304C>T (p.His102Tyr)	PIAS2 (H102Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379694	NM_004671.5(PIAS2):c.265T>C (p.Ser89Pro)	PIAS2 (S93P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279442	NM_004671.5(PIAS2):c.235A>G (p.Lys79Glu)	PIAS2 (K79E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242804	NC_000018.9:g.(?_42281312)_(45423127_?)del	ARK2C, ARK2N +17 more	Deletion	not provided	GPathogenic
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 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	SKOR2, SLC14A1 +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 688194	GRCh37/hg19 18q21.1(chr18:44284183-44407816)x3	PIAS2, ST8SIA5	Copy number gain	not provided	GUncertain significance
Select item 686260	GRCh37/hg19 18q21.1(chr18:44282251-44407816)x3	PIAS2, ST8SIA5	Copy number gain	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 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
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: 70