SDE2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 2348689	NM_152608.4(SDE2):c.1319C>G (p.Ala440Gly)	SDE2 (A440G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681532	NM_152608.4(SDE2):c.1265G>A (p.Arg422Gln)	SDE2 (R422Q)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3158895	NM_152608.4(SDE2):c.1244G>A (p.Cys415Tyr)	SDE2 (C415Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455001	NM_152608.4(SDE2):c.1204G>C (p.Glu402Gln)	SDE2 (E402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316801	NM_152608.4(SDE2):c.1166C>T (p.Ala389Val)	SDE2 (A389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158894	NM_152608.4(SDE2):c.1155A>G (p.Ile385Met)	SDE2 (I385M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531920	NM_152608.4(SDE2):c.1133C>T (p.Ala378Val)	SDE2 (A378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553054	NM_152608.4(SDE2):c.1099G>C (p.Val367Leu)	SDE2 (V367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158893	NM_152608.4(SDE2):c.1055A>G (p.Glu352Gly)	SDE2 (E352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316804	NM_152608.4(SDE2):c.961G>A (p.Glu321Lys)	SDE2 (E321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276526	NM_152608.4(SDE2):c.854C>T (p.Pro285Leu)	SDE2 (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158902	NM_152608.4(SDE2):c.782A>G (p.Lys261Arg)	SDE2 (K261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316802	NM_152608.4(SDE2):c.761A>G (p.Asn254Ser)	SDE2 (N254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330705	NM_152608.4(SDE2):c.722C>T (p.Thr241Ile)	SDE2 (T241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243892	NM_152608.4(SDE2):c.590C>T (p.Thr197Ile)	SDE2 (T197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158899	NM_152608.4(SDE2):c.577C>T (p.Arg193Trp)	SDE2 (R193W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316800	NM_152608.4(SDE2):c.551C>T (p.Ser184Leu)	SDE2 (S184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386744	NM_152608.4(SDE2):c.517A>C (p.Lys173Gln)	SDE2 (K173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368822	NM_152608.4(SDE2):c.392A>G (p.Glu131Gly)	SDE2 (E131G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496571	NM_152608.4(SDE2):c.338A>G (p.Asn113Ser)	SDE2 (N113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316803	NM_152608.4(SDE2):c.305G>A (p.Arg102Gln)	SDE2 (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272082	NM_152608.4(SDE2):c.184G>C (p.Val62Leu)	SDE2 (V62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588465	NM_152608.4(SDE2):c.175A>G (p.Ser59Gly)	SDE2 (S59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595315	NM_152608.4(SDE2):c.161C>T (p.Ala54Val)	SDE2 (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158896	NM_152608.4(SDE2):c.155A>G (p.Asn52Ser)	SDE2 (N52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308517	NM_152608.4(SDE2):c.143T>G (p.Phe48Cys)	SDE2 (F48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347960	NM_152608.4(SDE2):c.110G>T (p.Cys37Phe)	LOC129932627, SDE2 (C37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508619	NM_152608.4(SDE2):c.101A>C (p.His34Pro)	LOC129932627, SDE2 (H34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158901	NM_152608.4(SDE2):c.67G>T (p.Ala23Ser)	LOC129932627, SDE2 (A23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158898	NM_152608.4(SDE2):c.32G>C (p.Arg11Pro)	LOC129932627, SDE2 (R11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158897	NM_152608.4(SDE2):c.19C>G (p.Leu7Val)	LOC129932627, SDE2 (L7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247986	NC_000001.10:g.(?_225591005)_(227174438_?)del	ACBD3, COQ8A +16 more	Deletion	not provided	GPathogenic
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1410588	NC_000001.10:g.(?_225591005)_(227174438_?)dup	ACBD3, COQ8A +16 more	Duplication	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 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814172	GRCh37/hg19 1q42.12(chr1:226154689-226211609)x1	SDE2	Copy number loss	not provided	GUncertain significance
Select item 814171	GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3	ITPKB, ACBD3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814166	GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1	PSEN2, FBXO28 +42 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 687543	GRCh37/hg19 1q42.12(chr1:226028473-226226752)x3	EPHX1, LEFTY1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
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
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 69