ClinVar for Gene (Select 389792) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285280	NM_203434.3(IER5L):c.946G>A (p.Glu316Lys)	IER5L (E316K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285279	NM_203434.3(IER5L):c.482C>G (p.Ala161Gly)	IER5L, LOC130002744 (A161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285278	NM_203434.3(IER5L):c.890C>T (p.Ala297Val)	IER5L (A297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285277	NM_203434.3(IER5L):c.457C>T (p.Leu153Phe)	IER5L, LOC130002744 (L153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285276	NM_203434.3(IER5L):c.949G>A (p.Asp317Asn)	IER5L (D317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285275	NM_203434.3(IER5L):c.559C>G (p.Leu187Val)	IER5L (L187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285274	NM_203434.3(IER5L):c.452G>C (p.Gly151Ala)	IER5L, LOC130002744 (G151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285273	NM_203434.3(IER5L):c.940G>C (p.Asp314His)	IER5L (D314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3108087	NM_203434.3(IER5L):c.902A>C (p.Lys301Thr)	IER5L (K301T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108086	NM_203434.3(IER5L):c.787G>A (p.Val263Met)	IER5L (V263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108085	NM_203434.3(IER5L):c.748T>G (p.Cys250Gly)	IER5L (C250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108084	NM_203434.3(IER5L):c.746A>G (p.His249Arg)	IER5L (H249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108082	NM_203434.3(IER5L):c.539C>T (p.Pro180Leu)	IER5L (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108081	NM_203434.3(IER5L):c.484C>T (p.Leu162Phe)	IER5L, LOC130002744 (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108080	NM_203434.3(IER5L):c.394C>T (p.Pro132Ser)	IER5L, LOC130002744 (P132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
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 2684588	GRCh37/hg19 9q34.11(chr9:131883676-132328024)x3	IER5L, LINC02913 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2609921	NM_203434.3(IER5L):c.961C>G (p.Leu321Val)	IER5L (L321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555803	NM_203434.3(IER5L):c.698C>A (p.Pro233His)	IER5L (P233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515111	NM_203434.3(IER5L):c.512G>T (p.Arg171Leu)	IER5L, LOC130002744 (R171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512536	NM_203434.3(IER5L):c.665C>A (p.Ser222Tyr)	IER5L (S222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495050	NM_203434.3(IER5L):c.623G>A (p.Cys208Tyr)	IER5L (C208Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2408838	NM_203434.3(IER5L):c.942C>G (p.Asp314Glu)	IER5L (D314E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395760	NM_203434.3(IER5L):c.959G>A (p.Gly320Glu)	IER5L (G320E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393922	NM_203434.3(IER5L):c.1133C>T (p.Pro378Leu)	IER5L (P378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391108	NM_203434.3(IER5L):c.395C>T (p.Pro132Leu)	IER5L, LOC130002744 (P132L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380966	NM_203434.3(IER5L):c.745C>T (p.His249Tyr)	IER5L (H249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377167	NM_203434.3(IER5L):c.847C>T (p.Pro283Ser)	IER5L (P283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363881	NM_203434.3(IER5L):c.529C>T (p.Pro177Ser)	IER5L, LOC130002744 (P177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337004	NM_203434.3(IER5L):c.10G>A (p.Ala4Thr)	IER5L (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332881	NM_203434.3(IER5L):c.635C>G (p.Pro212Arg)	IER5L (P212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321084	NM_203434.3(IER5L):c.26G>A (p.Ser9Asn)	IER5L (S9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303197	NM_203434.3(IER5L):c.728C>T (p.Pro243Leu)	IER5L (P243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260800	NM_203434.3(IER5L):c.1139C>A (p.Pro380Gln)	IER5L (P380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	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 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 815297	GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1	ENDOG, SET +31 more	Copy number loss	not provided	GPathogenic
Select item 778454	NM_203434.3(IER5L):c.681G>T (p.Pro227=)	IER5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774207	NM_203434.3(IER5L):c.780C>T (p.Asp260=)	IER5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +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
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
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 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75