24343[HGNC] - ClinVar

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Items: 77

	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 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 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 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 2270611	NM_014593.4(CXXC1):c.1958G>T (p.Ser653Ile)	CXXC1 (S653I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079226	NM_014593.4(CXXC1):c.1932T>A (p.Asp644Glu)	CXXC1 (D648E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714750	NM_014593.4(CXXC1):c.1596T>C (p.Asp532=)	CXXC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 587556	NM_014593.4(CXXC1):c.1574+1G>C	CXXC1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2402193	NM_014593.4(CXXC1):c.1538C>T (p.Thr513Met)	CXXC1 (T513M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222106	NM_014593.4(CXXC1):c.1413+13G>C	CXXC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2263068	NM_014593.4(CXXC1):c.1330C>G (p.Leu444Val)	CXXC1 (L444V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1276855	NM_014593.4(CXXC1):c.1326T>C (p.Thr442=)	CXXC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602311	NM_014593.4(CXXC1):c.1315A>G (p.Ser439Gly)	CXXC1 (S439G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079225	NM_014593.4(CXXC1):c.1190T>G (p.Met397Arg)	CXXC1 (M397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079224	NM_014593.4(CXXC1):c.1142T>C (p.Val381Ala)	CXXC1 (V381A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079223	NM_014593.4(CXXC1):c.1042C>T (p.His348Tyr)	CXXC1 (H348Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079231	NM_014593.4(CXXC1):c.955G>A (p.Ala319Thr)	CXXC1 (A319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318930	NM_014593.4(CXXC1):c.901G>T (p.Asp301Tyr)	CXXC1 (D301Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079230	NM_014593.4(CXXC1):c.803A>C (p.Glu268Ala)	CXXC1 (E268A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282620	NM_014593.4(CXXC1):c.709C>T (p.Arg237Trp)	CXXC1 (R237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486593	NM_014593.4(CXXC1):c.689A>G (p.Glu230Gly)	CXXC1 (E230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708234	NM_014593.4(CXXC1):c.681G>A (p.Thr227=)	CXXC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256127	NM_014593.4(CXXC1):c.673C>A (p.Pro225Thr)	CXXC1 (P225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289792	NM_014593.4(CXXC1):c.665C>T (p.Ser222Leu)	CXXC1 (S222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727417	NM_014593.4(CXXC1):c.627G>A (p.Gln209=)	CXXC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079229	NM_014593.4(CXXC1):c.439T>G (p.Leu147Val)	CXXC1 (L147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378442	NM_014593.4(CXXC1):c.398C>T (p.Ala133Val)	CXXC1 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218623	NM_014593.4(CXXC1):c.362G>A (p.Arg121Gln)	CXXC1 (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234383	NM_014593.4(CXXC1):c.345T>C (p.Asp115=)	CXXC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507769	NM_014593.4(CXXC1):c.326G>A (p.Arg109His)	CXXC1 (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279198	NM_014593.4(CXXC1):c.325C>T (p.Arg109Cys)	CXXC1 (R109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304903	NM_014593.4(CXXC1):c.301G>A (p.Glu101Lys)	CXXC1 (E101K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310732	NM_014593.4(CXXC1):c.254G>A (p.Arg85Gln)	CXXC1 (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079227	NM_014593.4(CXXC1):c.247C>G (p.Arg83Gly)	CXXC1 (R83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605656	NM_014593.4(CXXC1):c.221G>A (p.Arg74Lys)	CXXC1 (R74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337318	NM_014593.4(CXXC1):c.159C>A (p.Asp53Glu)	CXXC1 (D53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773344	NM_014593.4(CXXC1):c.122+9G>A	CXXC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721548	NM_014593.4(CXXC1):c.75G>T (p.Ala25=)	CXXC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713216	NM_014593.4(CXXC1):c.27G>A (p.Glu9=)	CXXC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2249165	NM_014593.4(CXXC1):c.4G>A (p.Glu2Lys)	CXXC1 (E2K)	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 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	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 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 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 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 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 442216	GRCh37/hg19 18q21.1(chr18:47654984-48163538)x3	CFAP53, CXXC1 +4 more	Copy number gain	See cases	GUncertain significance
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

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Items: 77