ClinVar for Gene (Select 1466) - ClinVar

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

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078394	NM_001321.3(CSRP2):c.548G>A (p.Gly183Asp)	CSRP2 (G146D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078393	NM_001321.3(CSRP2):c.413C>T (p.Pro138Leu)	CSRP2 (P113L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078392	NM_001321.3(CSRP2):c.275C>T (p.Pro92Leu)	CSRP2 (P92L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078391	NM_001321.3(CSRP2):c.169T>C (p.Tyr57His)	CSRP2 (Y57H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2684679	GRCh37/hg19 12q21.2(chr12:77154801-77363261)x3	CSRP2, ZDHHC17	Copy number gain	not provided	GUncertain significance
Select item 2543259	NM_001321.3(CSRP2):c.251G>A (p.Arg84His)	CSRP2 (R47H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491427	NM_001321.3(CSRP2):c.160G>A (p.Glu54Lys)	CSRP2 (E54K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468555	NM_001321.3(CSRP2):c.242A>C (p.Asn81Thr)	CSRP2 (N44T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 563958	GRCh37/hg19 12q21.2(chr12:77266211-77964428)x3	E2F7, CSRP2	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 more	Copy number loss	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

Links from Gene

Items: 20