CTDSPL2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155042	GRCh38/hg38 15q15.3-21.1(chr15:43696563-44541320)x1	CKMT1A, CTDSPL2 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2572170	NC_000015.10:g.44330225_44821972dup	B2M, CTDSPL2 +21 more	Duplication	See cases	GUncertain significance
Select item 2615675	NM_016396.3(CTDSPL2):c.23C>G (p.Ala8Gly)	CTDSPL2 (A8G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703072	NM_016396.3(CTDSPL2):c.38del (p.Asn13fs)	CTDSPL2 (N13fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2494723	NM_016396.3(CTDSPL2):c.54A>C (p.Gln18His)	CTDSPL2 (Q18H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265331	NM_016396.3(CTDSPL2):c.91G>T (p.Asp31Tyr)	CTDSPL2 (D31Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248809	NM_016396.3(CTDSPL2):c.139G>A (p.Gly47Ser)	CTDSPL2 (G47S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252585	NM_016396.3(CTDSPL2):c.148T>C (p.Ser50Pro)	CTDSPL2 (S50P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263501	NM_016396.3(CTDSPL2):c.253T>A (p.Ser85Thr)	CTDSPL2 (S85T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784321	NM_016396.3(CTDSPL2):c.498A>G (p.Pro166=)	CTDSPL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2312525	NM_016396.3(CTDSPL2):c.500G>A (p.Gly167Glu)	CTDSPL2 (G167E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299325	NM_016396.3(CTDSPL2):c.595G>C (p.Ala199Pro)	CTDSPL2 (A199P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611210	NM_016396.3(CTDSPL2):c.670C>T (p.Arg224Cys)	CTDSPL2 (R224C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219773	NM_016396.3(CTDSPL2):c.677T>G (p.Ile226Ser)	CTDSPL2 (I226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532211	NM_016396.3(CTDSPL2):c.680C>G (p.Pro227Arg)	CTDSPL2 (P227R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334485	NM_016396.3(CTDSPL2):c.691G>A (p.Ala231Thr)	CTDSPL2 (A231T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714596	NM_016396.3(CTDSPL2):c.731C>T (p.Ala244Val)	CTDSPL2 (A244V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2605291	NM_016396.3(CTDSPL2):c.961A>G (p.Ile321Val)	CTDSPL2 (I321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519522	NM_016396.3(CTDSPL2):c.1273A>G (p.Met425Val)	CTDSPL2 (M425V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399287	NM_016396.3(CTDSPL2):c.1279A>G (p.Lys427Glu)	CTDSPL2 (K427E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480010	NM_016396.3(CTDSPL2):c.1327G>A (p.Val443Ile)	CTDSPL2 (V443I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063371	GRCh37/hg19 15q15.3-21.1(chr15:44663847-44917029)x3	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526449	GRCh37/hg19 15q15.3-21.1(chr15:44346958-44853978)	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance
Select item 221499	GRCh37/hg19 15q15.3-21.1(chr15:44791968-44852484)x3	CTDSPL2, EIF3J	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 36