SIDT2[gene] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 2603934	NM_001040455.2(SIDT2):c.138G>C (p.Glu46Asp)	SIDT2 (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401991	NM_001040455.2(SIDT2):c.189G>C (p.Glu63Asp)	SIDT2 (E63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295015	NM_001040455.2(SIDT2):c.233C>T (p.Ala78Val)	SIDT2 (A78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457708	NM_001040455.2(SIDT2):c.256C>A (p.Gln86Lys)	SIDT2 (Q86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487423	NM_001040455.2(SIDT2):c.306G>A (p.Met102Ile)	SIDT2 (M102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368899	NM_001040455.2(SIDT2):c.358C>T (p.Pro120Ser)	SIDT2 (P120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162082	NM_001040455.2(SIDT2):c.392A>C (p.Tyr131Ser)	SIDT2 (Y131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162083	NM_001040455.2(SIDT2):c.394G>A (p.Val132Met)	SIDT2 (V132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509127	NM_001040455.2(SIDT2):c.451A>G (p.Met151Val)	SIDT2 (M151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162084	NM_001040455.2(SIDT2):c.457G>A (p.Asp153Asn)	SIDT2 (D153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282092	NM_001040455.2(SIDT2):c.524A>C (p.Lys175Thr)	SIDT2 (K175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318449	NM_001040455.2(SIDT2):c.544G>A (p.Val182Met)	SIDT2 (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319987	NM_001040455.2(SIDT2):c.565G>A (p.Val189Met)	SIDT2 (V189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591969	NM_001040455.2(SIDT2):c.622C>G (p.Pro208Ala)	SIDT2 (P208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475802	NM_001040455.2(SIDT2):c.638A>G (p.Asp213Gly)	SIDT2 (D213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545643	NM_001040455.2(SIDT2):c.646G>A (p.Val216Ile)	SIDT2 (V216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333970	NM_001040455.2(SIDT2):c.703C>T (p.Arg235Cys)	SIDT2 (R235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162085	NM_001040455.2(SIDT2):c.784T>G (p.Phe262Val)	SIDT2 (F262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789211	NM_001040455.2(SIDT2):c.963-6A>G	SIDT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3162086	NM_001040455.2(SIDT2):c.992T>C (p.Ile331Thr)	SIDT2 (I331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228027	NM_001040455.2(SIDT2):c.1020C>A (p.His340Gln)	SIDT2 (H340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318452	NM_001040455.2(SIDT2):c.1057C>T (p.Pro353Ser)	SIDT2 (P353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522087	NM_001040455.2(SIDT2):c.1108G>A (p.Asp370Asn)	SIDT2 (D370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642404	NM_001040455.2(SIDT2):c.1149C>T (p.Tyr383=)	SIDT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514434	NM_001040455.2(SIDT2):c.1162C>T (p.Arg388Cys)	SIDT2 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162080	NM_001040455.2(SIDT2):c.1163G>A (p.Arg388His)	SIDT2 (R388H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389297	NM_001040455.2(SIDT2):c.1183A>G (p.Thr395Ala)	SIDT2 (T395A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318450	NM_001040455.2(SIDT2):c.1187G>A (p.Arg396Gln)	SIDT2 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318453	NM_001040455.2(SIDT2):c.1418C>T (p.Thr473Met)	SIDT2 (T473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162081	NM_001040455.2(SIDT2):c.1423G>C (p.Val475Leu)	SIDT2 (V475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510748	NM_001040455.2(SIDT2):c.1494C>T (p.Ser498=)	SIDT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2496479	NM_001040455.2(SIDT2):c.1620A>T (p.Glu540Asp)	SIDT2 (E540D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318451	NM_001040455.2(SIDT2):c.1762G>A (p.Gly588Arg)	SIDT2 (G588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620392	NM_001040455.2(SIDT2):c.1815C>T (p.Ser605=)	SIDT2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2373667	NM_001040455.2(SIDT2):c.1882A>C (p.Lys628Gln)	SIDT2 (K628Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779316	NM_001040455.2(SIDT2):c.1892C>T (p.Thr631Met)	SIDT2 (T631M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779317	NM_001040455.2(SIDT2):c.1923C>T (p.His641=)	SIDT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222792	NM_001040455.2(SIDT2):c.1949C>T (p.Thr650Met)	SIDT2 (T650M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616082	NM_001040455.2(SIDT2):c.1985C>T (p.Ser662Leu)	SIDT2 (S662L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404174	NM_001040455.2(SIDT2):c.1996C>T (p.Arg666Cys)	SIDT2 (R666C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379488	NM_001040455.2(SIDT2):c.2011G>A (p.Val671Met)	SIDT2 (V671M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642405	NM_001040455.2(SIDT2):c.2128C>T (p.Arg710Cys)	SIDT2 (R710C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2484073	NM_001040455.2(SIDT2):c.2371G>A (p.Asp791Asn)	LOC100652768, SIDT2 (D791N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	APOA1, APOA4 +17 more	Deletion	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	RASopathy +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	TAGLN, TBCEL +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	AQP11, CABP4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	GAL3ST3, GALNT18 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	MRGPRX3, MRGPRX4 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	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

Search results

Items: 72