EEIG1[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3087359	NM_001035254.3(EEIG1):c.1127A>G (p.Tyr376Cys)	EEIG1 (Y234C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087358	NM_001035254.3(EEIG1):c.1123G>A (p.Val375Ile)	EEIG1 (V233I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087357	NM_001035254.3(EEIG1):c.1082C>T (p.Thr361Met)	EEIG1 (T219M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087356	NM_001035254.3(EEIG1):c.1082C>G (p.Thr361Arg)	EEIG1 (T219R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274576	NM_001035254.3(EEIG1):c.1069G>A (p.Asp357Asn)	EEIG1 (D215N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087377	NM_001035254.3(EEIG1):c.973G>A (p.Asp325Asn)	EEIG1 (D183N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274580	NM_001035254.3(EEIG1):c.959A>G (p.Asp320Gly)	EEIG1 (D178G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471054	NM_001035254.3(EEIG1):c.938A>G (p.Glu313Gly)	EEIG1 (E313G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087376	NM_001035254.3(EEIG1):c.881C>T (p.Pro294Leu)	EEIG1 (P294L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274573	NM_001035254.3(EEIG1):c.875C>T (p.Pro292Leu)	EEIG1 (P292L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528048	NM_001035254.3(EEIG1):c.872C>T (p.Pro291Leu)	EEIG1 (P149L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087375	NM_001035254.3(EEIG1):c.848G>A (p.Arg283Gln)	EEIG1 (R141Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087374	NM_001035254.3(EEIG1):c.847C>T (p.Arg283Trp)	EEIG1 (R141W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274577	NM_001035254.3(EEIG1):c.823G>A (p.Val275Met)	EEIG1 (V133M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087373	NM_001035254.3(EEIG1):c.767C>T (p.Thr256Met)	EEIG1 (T114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087372	NM_001035254.3(EEIG1):c.742C>T (p.Arg248Cys)	EEIG1 (R248C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087370	NM_001035254.3(EEIG1):c.680C>T (p.Ser227Phe)	EEIG1 (S227F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087369	NM_001035254.3(EEIG1):c.607C>T (p.Leu203Phe)	EEIG1 (L203F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087368	NM_001035254.3(EEIG1):c.602C>G (p.Thr201Ser)	EEIG1 (T201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620222	NM_001035254.3(EEIG1):c.587C>A (p.Pro196His)	EEIG1 (P196H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510348	NM_001035254.3(EEIG1):c.587C>G (p.Pro196Arg)	EEIG1 (P196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612102	NM_001035254.3(EEIG1):c.584C>T (p.Pro195Leu)	EEIG1 (P195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087367	NM_001035254.3(EEIG1):c.583C>T (p.Pro195Ser)	EEIG1 (P53S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087366	NM_001035254.3(EEIG1):c.554G>A (p.Ser185Asn)	EEIG1 (S185N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611934	NM_001035254.3(EEIG1):c.542G>C (p.Ser181Thr)	EEIG1 (S39T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087365	NM_001035254.3(EEIG1):c.380C>T (p.Thr127Met)	EEIG1 (T127M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274575	NM_001035254.3(EEIG1):c.353G>A (p.Arg118His)	EEIG1 (R118H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622345	NM_001035254.3(EEIG1):c.325G>A (p.Glu109Lys)	EEIG1 (E109K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596180	NM_001035254.3(EEIG1):c.262C>T (p.Arg88Cys)	EEIG1 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087364	NM_001035254.3(EEIG1):c.241T>C (p.Cys81Arg)	EEIG1 (C81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087363	NM_001035254.3(EEIG1):c.238C>T (p.Pro80Ser)	EEIG1 (P80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274574	NM_001035254.3(EEIG1):c.203A>G (p.Lys68Arg)	EEIG1 (K68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087362	NM_001035254.3(EEIG1):c.196G>A (p.Val66Met)	EEIG1 (V66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087361	NM_001035254.3(EEIG1):c.182A>G (p.Lys61Arg)	EEIG1 (K61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087360	NM_001035254.3(EEIG1):c.131T>C (p.Val44Ala)	EEIG1, LOC106783495 (V44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	SH3GLB2, SLC25A25 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	ST6GALNAC6, AK1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 831938	NC_000009.12:g.(?_127815672)_(128541180_?)del	AK1, BBLN +22 more	Deletion	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 74