ClinVar for Gene (Select 199) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278905	NM_001623.5(AIF1):c.269T>C (p.Ile90Thr)	AIF1 (I36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2600142	NM_001623.5(AIF1):c.197-36C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 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 2458743	NM_001623.5(AIF1):c.197-45A>G	AIF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +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 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 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 2266908	NM_001623.5(AIF1):c.196+21G>C	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 2228622	NM_001623.5(AIF1):c.197-64C>T	AIF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21