ClinVar for Gene (Select 57559) - ClinVar

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

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323073	NM_020799.4(STAMBPL1):c.397T>C (p.Tyr133His)	STAMBPL1 (Y133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323072	NM_020799.4(STAMBPL1):c.329T>C (p.Leu110Pro)	STAMBPL1 (L110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323071	NM_020799.4(STAMBPL1):c.344T>C (p.Phe115Ser)	STAMBPL1 (F115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3170924	NM_020799.4(STAMBPL1):c.863T>G (p.Val288Gly)	STAMBPL1 (V288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170923	NM_020799.4(STAMBPL1):c.833A>G (p.Lys278Arg)	STAMBPL1 (K278R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170922	NM_020799.4(STAMBPL1):c.612G>C (p.Glu204Asp)	STAMBPL1 (E204D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170921	NM_020799.4(STAMBPL1):c.574G>A (p.Gly192Ser)	STAMBPL1 (G192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170920	NM_020799.4(STAMBPL1):c.391G>A (p.Val131Ile)	STAMBPL1 (V131I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170919	NM_020799.4(STAMBPL1):c.351G>C (p.Arg117Ser)	STAMBPL1 (R117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170918	NM_020799.4(STAMBPL1):c.278G>A (p.Arg93Gln)	STAMBPL1 (R93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170917	NM_020799.4(STAMBPL1):c.1058C>G (p.Thr353Ser)	STAMBPL1 (T353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170916	NM_020799.4(STAMBPL1):c.1027C>G (p.Leu343Val)	STAMBPL1 (L343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2620397	NM_020799.4(STAMBPL1):c.503G>A (p.Arg168His)	STAMBPL1 (R168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2515035	NM_020799.4(STAMBPL1):c.689C>A (p.Pro230His)	STAMBPL1 (P230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491356	NM_020799.4(STAMBPL1):c.997A>C (p.Asn333His)	STAMBPL1 (N333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468899	NM_020799.4(STAMBPL1):c.722A>G (p.His241Arg)	STAMBPL1 (H241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410901	NM_020799.4(STAMBPL1):c.671A>G (p.Asn224Ser)	STAMBPL1 (N224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328272	NM_020799.4(STAMBPL1):c.332A>C (p.Lys111Thr)	STAMBPL1 (K111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318030	NM_020799.4(STAMBPL1):c.502C>T (p.Arg168Cys)	STAMBPL1 (R168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271159	NM_020799.4(STAMBPL1):c.668T>C (p.Leu223Pro)	STAMBPL1 (L223P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254621	NM_020799.4(STAMBPL1):c.428A>G (p.Tyr143Cys)	STAMBPL1 (Y143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254044	NM_020799.4(STAMBPL1):c.68C>T (p.Ser23Phe)	STAMBPL1 (S23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231400	NM_020799.4(STAMBPL1):c.904A>T (p.Thr302Ser)	STAMBPL1 (T302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226733	NM_020799.4(STAMBPL1):c.9G>T (p.Gln3His)	STAMBPL1 (Q3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809032	GRCh37/hg19 10q23.31(chr10:90672265-91165763)x3	ACTA2, CH25H +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 979282	GRCh37/hg19 10q23.31(chr10:90122675-90771228)x3	ACTA2, ANKRD22 +9 more	Copy number gain	not provided	GUncertain significance
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 832890	NC_000010.11:g.(?_88770845)_(89328078_?)del	ACTA2, ANKRD22 +9 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 831557	NC_000010.11:g.(?_87863161)_(88948936_?)del	LIPF, ACTA2 +9 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 685475	GRCh37/hg19 10q23.31(chr10:90510448-91086868)x1	ACTA2, ANKRD22 +9 more	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 57094	GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3	ACTA2, ACTA2-AS1 +21 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48