CLIC4[gene] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 3267728	NM_013943.3(CLIC4):c.188C>T (p.Pro63Leu)	CLIC4 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599503	NM_013943.3(CLIC4):c.220C>T (p.His74Tyr)	CLIC4 (H74Y)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 3145762	NM_013943.3(CLIC4):c.232A>G (p.Ile78Val)	CLIC4 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145763	NM_013943.3(CLIC4):c.240C>A (p.Phe80Leu)	CLIC4 (F80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235053	NM_013943.3(CLIC4):c.257C>T (p.Thr86Met)	CLIC4 (T86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254244	NM_013943.3(CLIC4):c.344A>C (p.Asn115Thr)	CLIC4 (N115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267727	NM_013943.3(CLIC4):c.722A>G (p.Glu241Gly)	CLIC4 (E241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250864	NM_013943.3(CLIC4):c.754A>G (p.Thr252Ala)	CLIC4 (T252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic