CTDSP2[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 3033573	NM_005730.4(CTDSP2):c.786C>T (p.Tyr262=)	CTDSP2	Single nucleotide variant (synonymous variant)	CTDSP2-related disorder	GLikely benign
Select item 3034914	NM_005730.4(CTDSP2):c.768C>T (p.Ser256=)	CTDSP2	Single nucleotide variant (synonymous variant)	CTDSP2-related disorder	GLikely benign
Select item 3051125	NM_005730.4(CTDSP2):c.747C>A (p.Ile249=)	CTDSP2	Single nucleotide variant (synonymous variant)	CTDSP2-related disorder	GLikely benign
Select item 3078602	NM_005730.4(CTDSP2):c.718A>C (p.Met240Leu)	CTDSP2 (M240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544951	NM_005730.4(CTDSP2):c.465A>T (p.Glu155Asp)	CTDSP2 (E155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755992	NM_005730.4(CTDSP2):c.402C>T (p.Thr134=)	CTDSP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078601	NM_005730.4(CTDSP2):c.248A>G (p.Tyr83Cys)	CTDSP2 (Y83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619286	NM_005730.4(CTDSP2):c.77A>G (p.Lys26Arg)	CTDSP2 (K26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
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