STOM[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 2222445	NM_004099.6(STOM):c.833G>A (p.Gly278Glu)	STOM (G113E +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 2683061	NM_004099.6(STOM):c.796A>G (p.Thr266Ala)	STOM (T101A +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2229195	NM_004099.6(STOM):c.754T>A (p.Tyr252Asn)	STOM (Y87N +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2683062	NM_004099.6(STOM):c.716T>C (p.Met239Thr)	STOM (M239T +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3171473	NM_004099.6(STOM):c.515A>T (p.His172Leu)	STOM (H172L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568533	NM_004099.6(STOM):c.415G>A (p.Ala139Thr)	STOM (A139T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1163313	NM_004099.6(STOM):c.376G>A (p.Val126Ile)	STOM (V126I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3323364	NM_004099.6(STOM):c.352G>A (p.Val118Met)	STOM (V118M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299721	NM_004099.6(STOM):c.107C>T (p.Ala36Val)	STOM (A36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323635	NM_004099.6(STOM):c.68C>T (p.Pro23Leu)	STOM (P23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375513	NM_004099.6(STOM):c.39G>C (p.Gln13His)	LOC102723324, STOM (Q13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1163314	NM_004099.6(STOM):c.2T>C (p.Met1Thr)	LOC102723324, STOM (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1808232	GRCh37/hg19 9q33.2(chr9:124024959-124157971)x1	GSN, STOM	Copy number loss	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 1330179	GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1	ASTN2, BRINP1 +19 more	Copy number loss	Intellectual disability, borderline +5 more	GUncertain significance
Select item 815292	GRCh37/hg19 9q33.2(chr9:124107297-124159211)x1	STOM	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 41