ClinVar for Gene (Select 100128496) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3158643	NR_161342.1(SCP2D1-AS1):n.397A>G	SCP2D1-AS1	Single nucleotide variant (non-coding transcript 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 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 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 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 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 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 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 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
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 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 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 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 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
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 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 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 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 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

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Links from Gene

Items: 37