ClinVar for Gene (Select 10449) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260313	NM_006111.3(ACAA2):c.748G>A (p.Ala250Thr)	ACAA2 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260303	NM_006111.3(ACAA2):c.943G>T (p.Asp315Tyr)	ACAA2 (D315Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260293	NM_006111.3(ACAA2):c.767G>A (p.Gly256Asp)	ACAA2 (G256D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260282	NM_006111.3(ACAA2):c.29T>C (p.Val10Ala)	ACAA2 (V10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133444	NM_006111.3(ACAA2):c.94T>G (p.Leu32Val)	ACAA2 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133436	NM_006111.3(ACAA2):c.757G>A (p.Val253Ile)	ACAA2 (V253I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133429	NM_006111.3(ACAA2):c.616A>G (p.Ile206Val)	ACAA2 (I206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133409	NM_006111.3(ACAA2):c.326A>G (p.Lys109Arg)	ACAA2 (K109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133392	NM_006111.3(ACAA2):c.1111C>T (p.Arg371Cys)	ACAA2 (R371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2975911	NM_006111.3(ACAA2):c.954+18_954+19insG	ACAA2	Insertion (intron variant)	not provided	GLikely benign
Select item 2597112	NM_006111.3(ACAA2):c.880A>G (p.Ile294Val)	ACAA2 (I294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554633	NM_006111.3(ACAA2):c.547G>A (p.Ala183Thr)	ACAA2 (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542649	NM_006111.3(ACAA2):c.410A>C (p.Lys137Thr)	ACAA2 (K137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522252	NM_006111.3(ACAA2):c.445T>C (p.Trp149Arg)	ACAA2 (W149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465769	NM_006111.3(ACAA2):c.1121G>C (p.Gly374Ala)	ACAA2 (G374A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462598	NM_006111.3(ACAA2):c.170G>T (p.Gly57Val)	ACAA2 (G57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460955	NM_006111.3(ACAA2):c.83C>T (p.Thr28Ile)	ACAA2 (T28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423654	NC_000018.9:g.(?_47101719)_(47463787_?)dup	ACAA2, LIPG +1 more	Duplication	not provided	GUncertain significance
Select item 2389583	NM_006111.3(ACAA2):c.385G>A (p.Val129Ile)	ACAA2 (V129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355213	NM_006111.3(ACAA2):c.1102G>A (p.Glu368Lys)	ACAA2 (E368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319912	NM_006111.3(ACAA2):c.380A>G (p.Tyr127Cys)	ACAA2 (Y127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313093	NM_006111.3(ACAA2):c.650T>C (p.Met217Thr)	ACAA2 (M217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299955	NM_006111.3(ACAA2):c.1061T>A (p.Leu354Gln)	ACAA2 (L354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269308	NM_006111.3(ACAA2):c.1132G>C (p.Val378Leu)	ACAA2 (V378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251475	NM_006111.3(ACAA2):c.800C>G (p.Ala267Gly)	ACAA2 (A267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238739	NM_006111.3(ACAA2):c.1115G>T (p.Arg372Leu)	ACAA2 (R372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227536	NM_006111.3(ACAA2):c.712G>A (p.Val238Ile)	ACAA2 (V238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215967	NM_006111.3(ACAA2):c.936G>C (p.Lys312Asn)	ACAA2 (K312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208325	NM_006111.3(ACAA2):c.1132G>A (p.Val378Ile)	ACAA2 (V378I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207405	NM_006111.3(ACAA2):c.142C>A (p.Pro48Thr)	ACAA2 (P48T)	Single nucleotide variant (missense variant)	not specified	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 1412074	NC_000018.9:g.(?_46570425)_(48604837_?)dup	ACAA2, C18orf32 +14 more	Duplication	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 726897	NM_006111.3(ACAA2):c.592T>A (p.Tyr198Asn)	ACAA2 (Y198N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686980	GRCh37/hg19 18q21.1(chr18:47097488-47470054)x3	ACAA2, LIPG +1 more	Copy number gain	not provided	GUncertain significance
Select item 686588	GRCh37/hg19 18q21.1(chr18:47103259-47463796)x3	ACAA2, LIPG +1 more	Copy number gain	not provided	GUncertain significance
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
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 564505	GRCh37/hg19 18q21.1(chr18:47107857-47463620)x3	ACAA2, MYO5B +1 more	Copy number gain	not provided	GUncertain significance
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 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 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 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 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 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 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	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 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 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 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 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 71