AIF1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 3102511	NM_001623.5(AIF1):c.169T>C (p.Phe57Leu)	AIF1 (F57L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266908	NM_001623.5(AIF1):c.196+21G>C	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2228622	NM_001623.5(AIF1):c.197-64C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2458743	NM_001623.5(AIF1):c.197-45A>G	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2238199	NM_001623.5(AIF1):c.197-42G>C	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2600142	NM_001623.5(AIF1):c.197-36C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2494834	NM_001623.5(AIF1):c.197-34C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2459986	NM_001623.5(AIF1):c.200T>C (p.Ile67Thr)	AIF1 (I67T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406566	NM_001623.5(AIF1):c.215G>A (p.Arg72Gln)	AIF1 (R72Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588369	NM_001623.5(AIF1):c.256C>A (p.Leu86Ile)	AIF1 (L86I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287349	NM_001623.5(AIF1):c.310C>G (p.Pro104Ala)	AIF1 (P104A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20