SCP2D1-AS1[gene] - ClinVar

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

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 3158643	NR_161342.1(SCP2D1-AS1):n.397A>G	SCP2D1-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 2274627	NM_178483.3(SCP2D1):c.63G>T (p.Gln21His)	SCP2D1, SCP2D1-AS1 (Q21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308133	NM_178483.3(SCP2D1):c.82G>A (p.Val28Ile)	SCP2D1, SCP2D1-AS1 (V28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158641	NM_178483.3(SCP2D1):c.83T>A (p.Val28Asp)	SCP2D1, SCP2D1-AS1 (V28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158642	NM_178483.3(SCP2D1):c.94G>A (p.Ala32Thr)	SCP2D1, SCP2D1-AS1 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307581	NM_178483.3(SCP2D1):c.129G>T (p.Glu43Asp)	SCP2D1, SCP2D1-AS1 (E43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284963	NM_178483.3(SCP2D1):c.285G>A (p.Met95Ile)	SCP2D1, SCP2D1-AS1 (M95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375022	NM_178483.3(SCP2D1):c.290C>T (p.Pro97Leu)	SCP2D1, SCP2D1-AS1 (P97L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158636	NM_178483.3(SCP2D1):c.332C>T (p.Pro111Leu)	SCP2D1, SCP2D1-AS1 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158637	NM_178483.3(SCP2D1):c.347T>C (p.Met116Thr)	SCP2D1, SCP2D1-AS1 (M116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158638	NM_178483.3(SCP2D1):c.364A>G (p.Lys122Glu)	SCP2D1, SCP2D1-AS1 (K122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316669	NM_178483.3(SCP2D1):c.422T>C (p.Leu141Pro)	SCP2D1, SCP2D1-AS1 (L141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158639	NM_178483.3(SCP2D1):c.451A>G (p.Lys151Glu)	SCP2D1, SCP2D1-AS1 (K151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 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: 37