CLIC2[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93695	NM_001289.6(CLIC2):c.*19=	CLIC2	Single nucleotide variant (no sequence alteration)	not provided +1 more	GBenign
Select item 434773	NM_001289.6(CLIC2):c.717C>T (p.Tyr239=)	CLIC2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1695329	NM_001289.6(CLIC2):c.706G>A (p.Glu236Lys)	CLIC2 (E236K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664617	NM_001289.6(CLIC2):c.680A>G (p.His227Arg)	CLIC2 (H227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336049	NM_001289.6(CLIC2):c.679C>T (p.His227Tyr)	CLIC2 (H227Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661877	NM_001289.6(CLIC2):c.641G>A (p.Arg214His)	CLIC2 (R214H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678464	NM_001289.6(CLIC2):c.582+6T>C	CLIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 598638	NM_001289.6(CLIC2):c.516A>G (p.Leu172=)	CLIC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2308065	NM_001289.6(CLIC2):c.508A>G (p.Arg170Gly)	CLIC2 (R170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 197724	NM_001289.6(CLIC2):c.478C>G (p.Pro160Ala)	CLIC2 (P160A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3145755	NM_001289.6(CLIC2):c.455C>A (p.Thr152Asn)	CLIC2 (T152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698466	NM_001289.6(CLIC2):c.454A>G (p.Thr152Ala)	CLIC2 (T152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321269	NM_001289.6(CLIC2):c.434G>A (p.Arg145His)	CLIC2 (R145H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GLikely benign
Select item 1271034	NM_001289.6(CLIC2):c.400+297=	CLIC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334434	NM_001289.6(CLIC2):c.392C>A (p.Ala131Glu)	CLIC2 (A131E)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GUncertain significance
Select item 1690356	NM_001289.6(CLIC2):c.360T>G (p.Phe120Leu)	CLIC2 (F120L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067786	NM_001289.6(CLIC2):c.351T>C (p.Phe117=)	CLIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 39823	NM_001289.6(CLIC2):c.303C>G (p.His101Gln)	CLIC2 (H101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661878	NM_001289.6(CLIC2):c.251T>A (p.Ile84Asn)	CLIC2 (I84N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064497	NM_001289.6(CLIC2):c.171G>C (p.Lys57Asn)	CLIC2 (K57N)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GUncertain significance
Select item 2637799	NM_001289.6(CLIC2):c.168-17A>T	CLIC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1029305	NM_001289.6(CLIC2):c.103C>T (p.Arg35Cys)	CLIC2 (R35C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GUncertain significance
Select item 3145756	NM_001289.6(CLIC2):c.75G>C (p.Glu25Asp)	CLIC2 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807878	NM_001289.6(CLIC2):c.62G>T (p.Gly21Val)	CLIC2 (G21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050665	NM_001289.6(CLIC2):c.58-6T>G	CLIC2	Single nucleotide variant (intron variant)	CLIC2-related disorder	GBenign
Select item 446044	NM_001289.6(CLIC2):c.57+10C>T	CLIC2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1675174	NM_001289.6(CLIC2):c.19G>A (p.Gly7Ser)	CLIC2 (G7S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2623060	NM_001289.6(CLIC2):c.14G>A (p.Arg5Gln)	CLIC2 (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808092	GRCh37/hg19 Xq28(chrX:154497048-154553189)x0	CLIC2	Copy number loss	not provided	GUncertain significance
Select item 1676495	NM_001289.6(CLIC2):c.574A>G (p.Ile192Val)	CLIC2 (I192V)	Single nucleotide variant	not provided	GUncertain significance

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: 30