CRABP2[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 3269371	NM_001878.4(CRABP2):c.410G>A (p.Arg137Gln)	CRABP2 (R137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326810	NM_001878.4(CRABP2):c.377C>T (p.Ala126Val)	CRABP2 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077076	NM_001878.4(CRABP2):c.374C>T (p.Thr125Met)	CRABP2 (T125M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718267	NM_001878.4(CRABP2):c.366G>C (p.Leu122=)	CRABP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269372	NM_001878.4(CRABP2):c.319A>G (p.Lys107Glu)	CRABP2 (K107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618751	NM_001878.4(CRABP2):c.312G>C (p.Glu104Asp)	CRABP2 (E104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513108	NM_001878.4(CRABP2):c.254T>A (p.Leu85Gln)	CRABP2 (L85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365041	NM_001878.4(CRABP2):c.208G>A (p.Glu70Lys)	CRABP2 (E70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365743	NM_001878.4(CRABP2):c.178C>T (p.Arg60Cys)	CRABP2 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312026	NM_001878.4(CRABP2):c.175G>A (p.Val59Met)	CRABP2 (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077078	NM_001878.4(CRABP2):c.77A>G (p.Asn26Ser)	CRABP2 (N26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390291	NM_001878.4(CRABP2):c.76A>T (p.Asn26Tyr)	CRABP2 (N26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077077	NM_001878.4(CRABP2):c.58C>A (p.Leu20Ile)	CRABP2 (L20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1341236	GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1	CRABP2, HDGF +9 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
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

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: 31