AIF1L[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +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	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 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 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 2473920	NM_031426.4(AIF1L):c.5C>T (p.Ser2Leu)	AIF1L (S2L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102513	NM_031426.4(AIF1L):c.19A>G (p.Asn7Asp)	AIF1L (N7D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557911	NM_031426.4(AIF1L):c.91C>T (p.Arg31Trp)	AIF1L (R31W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339226	NM_031426.4(AIF1L):c.94-5405G>A	AIF1L (C33Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376491	NM_031426.4(AIF1L):c.173A>T (p.Glu58Val)	AIF1L (E84V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102523	NM_031426.4(AIF1L):c.317G>A (p.Arg106Gln)	AIF1L (R106Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385931	NM_031426.4(AIF1L):c.419C>T (p.Pro140Leu)	AIF1L (P166L +1 more)	Single nucleotide variant (missense variant +2 more)	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	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
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 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1445318	NC_000009.11:g.(?_133901652)_(134398493_?)dup	AIF1L, FAM78A +5 more	Duplication	not provided	GUncertain significance
Select item 979880	GRCh37/hg19 9q34.12-34.13(chr9:133860060-134187480)x3	AIF1L, LAMC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 830950	NC_000009.12:g.(?_130664644)_(131523116_?)dup	FIBCD1, PRDM12 +10 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +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 563604	GRCh37/hg19 9q34.12-34.13(chr9:133888865-134093248)x1	NUP214, AIF1L +1 more	Copy number loss	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +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	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 42