USP2-AS1[gene] - ClinVar

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

Search results

Items: 26

	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 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 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2614703	NM_006288.5(THY1):c.433C>G (p.Leu145Val)	THY1, USP2-AS1 (L128V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177286	NM_006288.5(THY1):c.413A>G (p.Gln138Arg)	THY1, USP2-AS1 (Q121R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326044	NM_006288.5(THY1):c.358G>A (p.Val120Ile)	THY1, USP2-AS1 (V103I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3177285	NM_006288.5(THY1):c.343A>G (p.Ile115Val)	THY1, USP2-AS1 (I115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369153	NM_006288.5(THY1):c.308C>T (p.Thr103Met)	THY1, USP2-AS1 (T103M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381861	NM_006288.5(THY1):c.277G>A (p.Ala93Thr)	THY1, USP2-AS1 (A93T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291841	NM_006288.5(THY1):c.265C>T (p.Leu89Phe)	THY1, USP2-AS1 (L89F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177283	NM_006288.5(THY1):c.224G>A (p.Arg75His)	THY1, USP2-AS1 (R75H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326046	NM_006288.5(THY1):c.171G>C (p.Glu57Asp)	THY1, USP2-AS1 (E40D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326045	NM_006288.5(THY1):c.116G>A (p.Arg39His)	THY1, USP2-AS1 (R39H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253558	NM_006288.5(THY1):c.106C>G (p.Leu36Val)	THY1, USP2-AS1 (L36V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223287	NM_006288.5(THY1):c.53G>A (p.Arg18Gln)	THY1, USP2-AS1 (R18Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177284	NM_006288.5(THY1):c.25C>T (p.Leu9Phe)	THY1, USP2-AS1 (L9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	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: 26