ClinVar for Gene (Select 4200) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293907	NM_002396.5(ME2):c.935C>T (p.Ala312Val)	ME2 (A312V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293905	NM_002396.5(ME2):c.407C>T (p.Ser136Leu)	ME2 (S136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293904	NM_002396.5(ME2):c.335A>G (p.Tyr112Cys)	ME2 (Y112C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293903	NM_002396.5(ME2):c.683C>T (p.Thr228Ile)	ME2 (T228I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293902	NM_002396.5(ME2):c.809G>A (p.Arg270Gln)	ME2 (R270Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293901	NM_002396.5(ME2):c.475G>A (p.Val159Ile)	ME2 (V159I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124762	NM_002396.5(ME2):c.910G>A (p.Glu304Lys)	ME2 (E304K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124761	NM_002396.5(ME2):c.754A>G (p.Ile252Val)	ME2 (I252V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124760	NM_002396.5(ME2):c.667C>G (p.Gln223Glu)	ME2 (Q223E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124759	NM_002396.5(ME2):c.581G>A (p.Arg194Gln)	ME2 (R194Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3124758	NM_002396.5(ME2):c.550C>T (p.Leu184Phe)	ME2 (L184F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124757	NM_002396.5(ME2):c.54T>G (p.His18Gln)	ME2 (H18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124756	NM_002396.5(ME2):c.444T>A (p.Asp148Glu)	ME2 (D148E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124755	NM_002396.5(ME2):c.1508C>G (p.Thr503Arg)	ME2 (T503R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124754	NM_002396.5(ME2):c.1291G>A (p.Glu431Lys)	ME2 (E431K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124753	NM_002396.5(ME2):c.1061G>A (p.Arg354Gln)	ME2 (R354Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060471	NM_002396.5(ME2):c.1349G>A (p.Gly450Glu)	ME2 (G450E)	Single nucleotide variant (missense variant +1 more)	ME2-related disorder	GBenign
Select item 3043069	NM_002396.5(ME2):c.1230C>T (p.Ile410=)	ME2	Single nucleotide variant (synonymous variant +1 more)	ME2-related disorder	GLikely benign
Select item 3033318	NM_002396.5(ME2):c.844+8A>C	ME2	Single nucleotide variant (intron variant)	ME2-related disorder	GBenign
Select item 2613315	NM_002396.5(ME2):c.1075G>A (p.Asp359Asn)	ME2 (D359N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592737	NM_002396.5(ME2):c.982G>T (p.Val328Leu)	ME2 (V328L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547671	NM_002396.5(ME2):c.1559A>G (p.Gln520Arg)	ME2 (Q520R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540978	NM_002396.5(ME2):c.1525C>G (p.Gln509Glu)	ME2 (Q509E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536754	NM_002396.5(ME2):c.1367A>G (p.Asp456Gly)	ME2 (D456G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510580	NM_002396.5(ME2):c.1190G>A (p.Arg397His)	ME2 (R397H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481204	NM_002396.5(ME2):c.1165A>T (p.Ile389Leu)	ME2 (I389L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404989	NM_002396.5(ME2):c.288T>G (p.Phe96Leu)	ME2 (F96L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383734	NM_002396.5(ME2):c.1232A>G (p.Asn411Ser)	ME2 (N411S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350627	NM_002396.5(ME2):c.608T>C (p.Ile203Thr)	ME2 (I203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348088	NM_002396.5(ME2):c.1286C>T (p.Thr429Met)	ME2 (T429M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323687	NM_002396.5(ME2):c.979A>G (p.Met327Val)	ME2 (M327V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314833	NM_002396.5(ME2):c.86T>C (p.Met29Thr)	ME2 (M29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297396	NM_002396.5(ME2):c.1115G>A (p.Ser372Asn)	ME2 (S372N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2296885	NM_002396.5(ME2):c.1684T>C (p.Tyr562His)	ME2 (Y562H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2287777	NM_002396.5(ME2):c.1451G>A (p.Arg484Gln)	ME2 (R484Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228619	NM_002396.5(ME2):c.1466G>A (p.Ser489Asn)	ME2 (S489N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808433	GRCh37/hg19 18q21.2(chr18:48273185-51134173)x3	DCC, ELAC1 +4 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 1676767	NM_002396.5(ME2):c.1349= (p.Gly450=)	ME2	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676766	NM_002396.5(ME2):c.1315-1725T>C	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676765	NM_002396.5(ME2):c.844+18C>A	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676764	NM_002396.5(ME2):c.108+687=	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676763	NM_002396.5(ME2):c.-13+1648C>T	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676762	NC_000018.10:g.50872497=	ME2	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676761	NC_000018.10:g.50866180C>T	ME2	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676760	NC_000018.10:g.50861586G>A	ME2	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 757153	NM_002396.5(ME2):c.597G>A (p.Leu199=)	ME2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 447714	NM_002396.5(ME2):c.629T>C (p.Ile210Thr)	ME2 (I210T)	Single nucleotide variant (missense variant)	ME2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 447713	NM_002396.5(ME2):c.409A>G (p.Ile137Val)	ME2 (I137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 447712	NM_002396.5(ME2):c.1636C>A (p.Pro546Thr)	ME2 (P546T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 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 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 154456	GRCh38/hg38 18q21.1-21.2(chr18:50654541-50922497)x3	LOC129390995, LOC130062498 +4 more	Copy number gain	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 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 94060	NM_002396.5(ME2):c.1404T>A (p.Val468=)	ME2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 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 14353	Multiple alleles	ME2	Single nucleotide variant (intron variant +1 more)	Epilepsy, idiopathic generalized, susceptibility to	GUncertain significance

ClinVar

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Links from Gene

Items: 92