ClinVar for Gene (Select 2026) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275443	NM_001975.3(ENO2):c.145C>A (p.Leu49Met)	ENO2 (L49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275441	NM_001975.3(ENO2):c.806G>A (p.Arg269Gln)	ENO2 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275440	NM_001975.3(ENO2):c.647A>G (p.Asn216Ser)	ENO2 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088902	NM_001975.3(ENO2):c.991G>A (p.Ala331Thr)	ENO2 (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088900	NM_001975.3(ENO2):c.569A>G (p.His190Arg)	ENO2 (H190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088899	NM_001975.3(ENO2):c.548G>A (p.Arg183Gln)	ENO2 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3058560	NM_001975.3(ENO2):c.409C>T (p.Leu137=)	ENO2	Single nucleotide variant (synonymous variant)	ENO2-related disorder	GLikely benign
Select item 3043972	NM_001975.3(ENO2):c.426C>T (p.Asp142=)	ENO2	Single nucleotide variant (synonymous variant)	ENO2-related disorder	GLikely benign
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2608775	NM_001975.3(ENO2):c.717G>T (p.Lys239Asn)	ENO2 (K239N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588586	NM_001975.3(ENO2):c.352G>A (p.Val118Met)	ENO2 (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521584	NM_001975.3(ENO2):c.95G>A (p.Arg32Gln)	ENO2 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2407618	NM_001975.3(ENO2):c.1199G>A (p.Arg400His)	ENO2, LOC130007287 (R400H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406784	NM_001975.3(ENO2):c.806G>T (p.Arg269Leu)	ENO2 (R269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395798	NM_001975.3(ENO2):c.545T>C (p.Met182Thr)	ENO2 (M182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381234	NM_001975.3(ENO2):c.275A>G (p.Asn92Ser)	ENO2 (N92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377473	NM_001975.3(ENO2):c.1177A>G (p.Ile393Val)	ENO2, LOC130007287 (I393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320821	NM_001975.3(ENO2):c.601G>A (p.Gly201Ser)	ENO2 (G201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315453	NM_001975.3(ENO2):c.534T>G (p.Phe178Leu)	ENO2 (F178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309347	NM_001975.3(ENO2):c.166C>T (p.Arg56Cys)	ENO2 (R56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288727	NM_001975.3(ENO2):c.1118C>T (p.Ser373Leu)	ENO2 (S373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228040	NM_001975.3(ENO2):c.253G>A (p.Val85Met)	ENO2 (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527683	GRCh37/hg19 12p13.31(chr12:6872634-7244086)	ATN1, C12orf57 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 981868	NM_001975.3(ENO2):c.1235+2_1235+5dup	ENO2, LOC130007287	Duplication (splice donor variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +34 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 785391	NM_001975.3(ENO2):c.311-9A>C	ENO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 74