CSRP2[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +126 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	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 57208	GRCh38/hg38 12q21.2-21.31(chr12:75683698-80195649)x1	BBS10, CSRP2 +77 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 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 3269947	NM_001321.3(CSRP2):c.351G>C (p.Glu117Asp)	CSRP2 (E80D +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 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 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 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 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 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 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)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 21