CLIC1[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2612614	NM_001288.6(CLIC1):c.620A>G (p.His207Arg)	CLIC1 (H207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278342	NM_001288.6(CLIC1):c.611G>C (p.Arg204Pro)	CLIC1 (R204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267725	NM_001288.6(CLIC1):c.521C>T (p.Thr174Ile)	CLIC1 (T174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263364	NM_001288.6(CLIC1):c.508G>A (p.Gly170Ser)	CLIC1 (G170S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459557	NM_001288.6(CLIC1):c.414G>C (p.Lys138Asn)	CLIC1 (K138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623143	NM_001288.6(CLIC1):c.410T>C (p.Leu137Pro)	CLIC1 (L137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351058	NM_001288.6(CLIC1):c.276G>T (p.Arg92Ser)	CLIC1 (R92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145754	NM_001288.6(CLIC1):c.239T>C (p.Ile80Thr)	CLIC1, LOC113174991 (I80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489046	NM_001288.6(CLIC1):c.184G>T (p.Gly62Trp)	CLIC1, LOC113174991 (G62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145753	NM_001288.6(CLIC1):c.182G>T (p.Gly61Val)	CLIC1, LOC113174991 (G61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268404	NM_001288.6(CLIC1):c.62T>C (p.Ile21Thr)	CLIC1, LOC113174991 (I21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274875	NM_001288.6(CLIC1):c.34G>A (p.Val12Met)	CLIC1 (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246239	NC_000006.11:g.(?_31620520)_(31937492_?)del	ABHD16A, APOM +28 more	Deletion	not provided	GUncertain significance
Select item 3246158	NC_000006.11:g.(?_31631971)_(31895135_?)del	ABHD16A, C2 +23 more	Deletion	not provided	GPathogenic
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 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
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

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Items: 22